Amyotrophic Lateral Sal cekIh3 Vi LEARNING OBJECTIVES Vanina Dal Bello-Haas, PT, PhD CHAPTER OUTLINE 1. Desctbe the epidemiology, rik actors, etiology, pathogenesis, diagnosis, and ‘general prognosis of amycirophic lateral Sclerosis (ALS) 2. Compare and contrast the ElEscorial agnostic ere for ALS 2. Differentiate among impaments relaced to lower motor reuron pathology, upper motor neuron pathology, and bulbar impaitmencs 4. Discuss the medical and heakh care management of ind viduals with ALS [Link] a framework fr rehabilitation forindivisvals with ALS 6. Describe the comoonents ofthe physical therapy examination fr ndvidual wth AS [Link] the role ofthe ohysical therap tin the managernent of an individual wth ALS and the factors that influence intervention options. 8. Compare and contrast overwork damage and disuse avophy ait relates teas. 9. Summarize the Iteraute related to exercise and ALS, 10, Describe considerations that must be taken into account when ges gning an exercise program forthe navidal with AS. Discuss problems commonly seen in indvidvals with ALS and the physical therapy interventions for these commen problems. 12, Determine the antcipated goals and ‘expected outcomes for an inividual ‘with ALS based on physical therapist ‘examination inahngs 13. Design an intervention program forthe indvidual with ALS based on the physical therapist examination findings, EPIDEMIOLOGY 770 ETIOLOGY 770 PATHOPHYSIOLOGY 77) CLINICAL MANIFESTATIONS 772 Impairments Related to UMN, Pathology 773 Impairments Related to UMN Pathology 774 Impairments Related to Bulbar Pathology 7/4 Respiratory mpaiments 774 Cognitwe Impairments 774 Rare Impairments 774 DIAGNosIS 77 DISEASE COURSE 776 PROGNOSIS 7/6 MANAGEMENT 7/6 Disease-Modifying Agents 777 Symptom Management /77 FRAMEWORK FOR REHABILITATION 87 PHYSICAL THERAPY EXAMINATION 8? Cognition 782 Psychosocial Function 782 Pain 782 Joint Incest, ange of Motion, and Muscle Length 783 Muscle Performance 783, Motor Function 73, Tone and Reflexes 783 CranialNerve Integrity 783 Sensation 783 Postural Alignment, Control, and Balance 783 cat 783 Bespratory Function 783 Integument 783 Functional Status 784 Environmental Barets 786 Fatigue 784 DISEASE-SPECIFIC AND. ‘QUALITY-OF-LIFE MEASURES 784 Disease-Spectic Measures 754 Quality-oFLife Measures 784 PHYSICAL THERAPY INTERVENTIONS 764 Cervical Muscle Weakness 735 Dysarthria and Dysphagia 786 UE Muscle Weakress 787 Shoulder Pain 788 Respiratory Muscle Weskness 788 Muscle Weakness and Gait Irsparments 788 Actes of Dally Living 789 Decreased Mobily 749 Muscle Cramps and Spasticky /90 Psychosocial sues 797 EXERCISE AND ALS 791 Disuse Atrophy 791 Overuse Fatigue 792 PATIENT/CLIENT-RELATED INSTRUCTION 792 SUMMARY 795 769770 SECTION If Intervention Strategies for Rehab fotor neuron diseases (MND) include a Mittccenst spectrum of inherited and spo- tadic (no family history) clinical disorders of the upper motor neurons (UMNS), lower motor new: rons (LMNS), or a combination of both! (Table 17.1) Amyotrophic lateral sclerosis (ALS), commonly known, as Lou Gehrig's disease, is the most common and devas: tatingly fatal MND among adults. ALS is characterized by the degeneration and loss of motor neurons in the spinal cord, brainstem, and brain, resulting in a variety ‘of UMN and LMN clinical signs and symptoms? EPIDEMIOLOGY It is estimated that 30,000 individuals in the United States have ALS at any one time and 15 cases are diag. nosed every day. Except in a very few high-incidence areas, such as Guam and the Kii Peninsula of Japan (geographical foci, Western Pacific form of ALS), the overall incidence of ALS has been reported to be in the range of 0.4 to 2.4 cases per 100,000, with the incidence increasing with each decade of life, until at least the seventh decade. The prevalence of ALS has been reported to be 4 to 10 cases per 100,000.7 Although ALS can occur at any age, the average age at onset is the mid-to-late 50s.497 Most studies have found that the disease affects men slightly more than ‘women, with an approximate ratio of 1.7:1;35 how- ever, after age 65, this gender-related incidence is less pronounced.* In about 5% co 10% of individuals the disease is inherited as an autosomal dominant wait (familial ALS [FALS})3°"° although rate cases of juvenile-onset ALS are inherited in an autosomal recessive pattern.!! Of the hereditary adult ALS cases, Subtype Nervous System Pathology ‘Amyotroahiclateral__ Degeneration ofthe cor- sclerosis cospinal acts, neurons in the motor cortex and brain- stem, and anterior horn cells Inthe spinal cord Prmmary lateral Degeneration of upper motor sclerosis neurons Progressive bulbar Degeneration of moter neurons palsy of cranial nerves IX to Xil Progressive muscular Loss or chromatalysis of moter atrophy neurons of the spinal cord and brainstem Adapiedin pr rom ow “The tei MND ited to deci the dca in the United Kingdom, Nes the tern ALS used in North Ares and Europe. Is Earope, AIS eo led Charcot dene approximately 20% are a result of one of more than 100 mutations in superoxide dismutase 1 (SOD1),!213 a gene that encodes the copper-zine superoxide dismu- tase enzyme. The very large majority of adulc individuals with ALS have no family history of the disease (sporadic ALS), although a very small percentage of individuals with sporadic ALS do have a mutation in SODI."*" Approximately 70% to 80% of individuals develop limbeonset ALS, with initial involvement in the extrem ities; 20% to 30% develop bulbar-onset ALS, with initial involvement in the bulbar muscles.§'547 Bulbar-onset ALS is more common in middle-aged women, and ini tial symptoms may include difficulty speaking, chewing, or swallowing 26 METIOLOGY Epidemiologic evidence has identified several known and possible risk factors for ALS (Fig, 17.1). However, other than the small percentage of hereditary (FALS) cases, etiology for the most partis unknown, It is thought that no one single mechanism but rather multiple or cumula- tive mechanisms, including oxidative stress, exogenous neurotoxicity, excitotoxicity, impaired axonal transporta- tion, protein aggregation, apoptosis (programmed cell death), and lifestyle factors, may be responsible for neuron degeneration in ALS: 1. Superoxide dismutases ate a group of enzymes that eliminate oxygen fiee radicals that, although products of normal cell metabolism, have been implicated in neurodegeneration. There are three isoforms of SOD in humans: eytsoli copper-zine superoxide dismutase (CuZnSOD), mitochondrial manganese superoxide dismutase (MnSOD), and extracellular superoxide dismutase (ECSOD). SODA, a gene on chromosome 21, encodes CuZnSOD. Genetic stud- ies of individuals with adult-onset FALS have deter mined that about 20% of these individuals have mutations in SOD1; however, the primary gene de fect is unknown. When the SOD enzyme activity is decreased, as has been observed in individuals with FALS with SOD1 mutations, free radicals may ac cumulate causing damage.'318.9 Most mutations identified in FALS show modest loss in enzyme ac- tivity.20 suggesting the mutant SOD-1 protein may have toxic properties that cause motor neurons to die. However, the mechanism has yet to be determined." 2. Glutamate, an excitatory neurotransmitter, has also been implicated in neurodegeneration. Excess gluta ate triggers a cascade of events leading to cell death.1® Increased levels of glutamate in the cere brospinal fluid (CSF), plasma, and in postmortem. tissue of individuals with ALS have been reported 2122 A deficiency in excitatory amino acid transporters 2 (EAAT2), a specific glucamate transporter protein, in the motor cortex and spinal cord of postmortem ALS tissue was reported and lends support to the theory of excitotoxicity causing neurodegeneration 232%Disease-causing mutations (3, S001, asin) Gender {male = female) Known Risk Factors Tor ALS ‘Chusters (og, Western Pace ALSPOC) A Famly history CHAPTER 17 Amyotrophic Lateral Sdevosis 71 TERNS) | PRO py oy] "es, ren mara! (eclead moran. |] borate) shen oni (eg bata Urata aire we (eeccgerete | (Possible Risk Factors | "ums. tctures Soctng forts ver det skal ie, nconscoaness) inocu) 8 ight iso [saturated > moneunaatrtes igh ltamate ras ‘oerintae, lon anos nske) eran oooupaton ‘haraeeies| (eg, secre workers, ‘aime indusal eeupatons) Figure 17.1 (A) Known risk factors for ALS, (B) Possible risk factors for ALS. ALS/PDC = amyotrophic lateral sclerosis and parkinsonism dementia complex. 3. Clumping of neurofilament proteins into spheroids in the cell body and proximal axon is one of the histopathological characteristics of ALS,132526 Whether or not abnormal accumulation is secondary to the pathology or contributes to motor neuron degencration has yet to be determined.'® 4, Several studies have implicated an autoimmune reaction in the etiology of ALS.7272? For example, serum factors toxic to anterior hora motor neurons in individuals with ALS have been reported.2” and antibodies to calcium channels have been identified in individuals with ALS.2? 5. It has been hypothesized that 2 lack of neurotrophic factors could contribute to the development of ALS and other neurodegenerative disorders.® In vivo experiments and experiments with isolated motor neurons in cel culture have shown that neurotrophic factors are important in motor neuron survival? However, factor deficits in ALS have not been con- clusive. For example, a postmortem study found decreased amounts of ciliary neurotrophic factor (CNTA) in the ventral horn of the spinal cord, but not in the motor cortex; nerve growth factors were decreased in the motor cortex, but increased in the lateral column of the spinal cord.° 66. Other potential theories thought to contribute to neu- rodegeneration in ALS, which have anecdotal, limited, or indirect evidence, include exogenous or environ- ‘mental factors, apoptosis, and viral infections. PATHOPHYSIOLOGY Amyotrophic lateral sclerosis is characterized by a pro- gressive degeneration and loss of motor neurons in the spinal cord, brainstem, and motor cortex (Fig. 17.2) UMNS in the cortex are afected, as ae the corticospinal tracts, Brainstem nuclei for cranial nerves V (cigeminal), VII (facial), IX (glossopharyngeal), X (vagus), and XIL (hypoglossal) and anterior horn cells in the spinal cord are also involved? Brainstem nuclei for cranial nerves controlling external ocular muscles (III: oculomotor, IV; trochlear, and VI: abducens) are usually spared: if degeneration occurs, it does so late in the course of the disease.5 Motor neurons of the Onufrowicz nucleus (Onufs nucleus), located in the ventral margin of the anterior horn in the second sacral spinal level, are also generally spared; if they are affected, itis toa very limited extent.9®" These neurons control striated muscles in the pelvic floor, including anal and external urethral sphincters.#® ‘The sensory system and spinocerebellar tracts are also generally spared in ALS. Some studies suggest that sen- sory neurons may be involved in ALS, but to a much. lesser extent than the motor neurons. Morphological studies have found that peripheral sensory nerves exhibit axonal atrophy, demyelination, and degeneration 42 Figure 17.2 Luxol Fast 8 stained cross section of spinal cord at the high cervical level from a patient with classical ALS. Marked pallor, secondary to degeneration of the lat- eral and anterior corticospinal tracts, can be seen (large arrows). The ventral roots (V, small arrows) are atrophied, especially compared to the dorsal roots (D, small arrows). (From King, PH, and Mitsumete, H: Neuropathology of amyotrophic lateral sclerosis. n Beh, 4M, and Schilfman, PL [eds]: Amyotrophic Lateral Sclerosis: Diagnosis and Management forthe Clinician. Blackwell Publishing, Oxford, UK, 1996, p 205, with permission)772 SECTION It Intervention Strategies for Rehabilitation and dorsal root ganglia cells at autopsy reveal loss of large ganglion cells: Degeneration of Clarke's neurons and of the spinocerebellar tacts has also been reported.4#46 Degeneration of the spinocerebellar tracts is a well- recognized pathological feature of FALS and has been described in sporadic ALS, although itis rate. Posterior column degeneration is more common in FALS, but is rare in sporadic ALS.” ‘As motor neurons degenerate, they can no longer contzol the muscle fibers they innervate. Healthy, intact surrounding axons can sprout and reinnervate the partially denervated muscle (Fig. 17.3), in essence as- suming the role of the degenerated motor neuron and preserving strength and function early in the disease; however, the surviving motor units undergo enlarge- ‘ment.*°50 Reinnervation can compensate for the pro- gressive degeneration until motor unit loss is about 50%,4*0 and electromyography (EMG) studies have found evidence of motor unit reinnervation in individuals ALSS1S5! As the disease progresses, reinnervat Healthy cannot compensate for the rate of degeneration,*! and a variety of impairments develop (Table 17.2) “The progression of ALS is thought to spread in a con siguows manner, e8., Within spinal cord segments (cervical segments to cervical segments), before developing rostral or caudal symptoms."7°3 ‘Thus, signs and symptoms spread locally within a region (eg., bulbar, cervical, tho- racic, lumbosacral) before moving to other regions. ‘Caudal-to-rostal spread within the spinal cord and spread. from the cervical to bulbar region appears to occur faster than rostral-to-caudal spread within the spinal cord.!753 MECLINICAL MANIFESTATIONS Clinical manifestations of ALS vary depending on the localization and extent of motor neuron loss, the degree and combination of LMN and UMN loss, pattern of onset and progression, body region(s) affected, and stage of the disease. At onset, signs or symptoms are usually asymmetrical and focal Progression of the disease leads to increasing numbers and severity of impairments vation Reinervation Pathology/System Affected Clinical Manifestations/Impairments. LN pathology ‘Muscle weakness, hyporefiexia, hypotonicity, atrophy, muscle cramps, fsciculations UMN pathology ‘Spastcty, patholog cal reflexes, hyperefien, muscle weakness Bulbar Bulbar muscle weakness, dysphagia, dysarthra, salorhea, pseudobulbar affect Respiratory Respiratory muscle weakness (inspiratory and expiraton), dysonea, exerional dyspnea, nocturnal respiratory difficulty, orthopnea, hypoventilation, secretion retention, ineffective cough Frontotemporal dementia~related impairments (ea, loss of insight, emotional ‘bluntina}, cognitive impairments (eg, attention deficits, deficits in cognitive flexibility), behavioral impairments (9, iritablty, social disinhibition) Rare impairments: sensory impairments, Bowel and bladder dysfunction, ocular palsy Indirect and composite impairments Fatigue, weight loss, cachexia, decreased range Cf motion, tendon shortening, joint contracture, joint subluxation, adhesive capsults, pain, balance and postural control impairments, gait disturbances, deconditioning, depression, anxiety ‘ALS-FID,ALSci ALSbI ‘Other ‘Adaptedin param swash AALS = amyotroah lateral cleo ALi = ALS wth behoioal mpsitmient ALSe\= ALS vith eagitive mien ALS-FD= ALS wi roniotemporal cement NIN = lover motor neuron UNNV = up mater neuronImpairments Related to LMN Pathology ‘The most frequent presenting impairment, occurring in the majority of patients is focal, asymmetrical muscle weakness beginning in the lower extremity (LE) or ‘upper extremity (UE), or weakness of the bulbar mus- cles.37 Muscle weakness is considered the cardinal sign of ALS and may be caused by LMN or UMN loss. The weakness associated with LMN loss causes more signifi- cant dysfunction than the weakness from UMN loss. Initial muscle weakness usually occurs in isolated mus- cles, most often distally, and is followed by progressive weakness and activity limitations. For example, at onset an individual may notice difficulty with fine motor movements, such as buttoning, pinching, oF writing, or may notice foot “slapping” or increased frequency of tripping while walking, Individuals with bulbar onset may notice changes in their voice, difficulty moving the tongue, or decreased ability to move the lips ‘or open or close the mouth, In people with ALS, cervical extensor weakness is ‘typical 2 Individuals may initially notice neck stifiness, feel “heavy-headed” after reading or writing, or may have difficulties stabilizing the head with unanticipated move- ments, such as in an accelerating car. As weakness pro- sgresses, the head may begin to fall forward, and in more advanced stages the neck becomes completely flexed with the head dropped forward, causing cervical pain and impairments in ambulation and feeding (Fig. 17.4). Figure 17.4 Marked head droop in a 65-year-old man with ALS who first developed progressive weakness in both upper extremities. From Mitsumoto,H, Chad, DA, and Pioro, EK: Clinical features: Signs and symptoms In Mitsumoto, + Chad, DA, and Pora, EK (eds): Amyotrophic Lateral Sclerosis. A Davis Philadelphia 1998, p47, with permission) CHAPTER 17 Amyotrophic Lateral Sclerosis 773 ‘Muscle weakness leads to secondary impairments, in- cluding decreased range of motion (ROM), predisposing the patient to joint subluxation (e.g., shoulder), tendon, shortening (e-,, Achilles), joint contractures (commonly claw-hand deformity), and adhesive eapsulitis. Weakness also results in ambulation difficulties, deconditioning, and impaired postural control and balance. Foot drop, secondary to distal weakness, and instability, secondary to proximal weakness, are common. ‘the pattern and. progression of LE weakness are characterized by greater losses of muscle force in distal muscles compated to proximal muscles.5555 A retrospective study found that decreases in walking ability from independent walking, to walking in the community with assistance, to walking only at home, to being unable to walk were precipitated. by relatively small changes in muscle force.°6 Falls are also common, reported to occur in 46% of individuals with ALS? Several factors affect fatigue levels in patients with, ALS. As motor neurons die, the remaining neurons or sprouted neurons are overburdened. Weak muscles must work ata higher percentage of their maximal strength to perform the same activity. ‘This hastens muscle fatigue.>* Fatigue may also be related to sleep disturbances, respi- ratory impairments, hypoxia, and depression. Sanjak et al)? demonstrated that individuals with ALS have abnor- ‘mal physiological and metabolic responses to single bouts of exercise. Sharma et al found that in individuals with ALS, tetanic and maximal voluntary force during sustained contraction were decreased compared to con- trols. No impairment was found in the muscular mem- brane or neuromuscular transmission, suggesting that muscle fatigue in ALS, in part, is due to impaired con- tuaction activation. ‘As muscle fibers progressively denervate, their volume decreases resulting in atrophy. Fasciculations, random, spontaneous twitching of muscle fibers often seen through the skin, are common in individuals with ALS, although they ate ately an initial symptom. ‘The etiology of fasciculations remains unclear and is thought to be related to hyperexcitability of motor axons. 4 ‘Other LMN signs include hyporeflexia, decreased or absent reflexes, decreased muscle tone or flaccidity, and. muscle cramping? ‘The etiology of muscle cramping is not well understood and is also thought to be related. to hyperexctability of motor axons. In individuals with, ALS, muscle eramps can occur in uncommon sites such as the tongue, jaw, neck, or abdomen, as well as in the UEs, hands, and calf or thigh? Sensory pathways are spared for the most part in peo- ple with ALS; however, some patients may complain of ill-defined paresthesia or pain in the limbs. Pain can occur, especially when muscle weakness and spasticity lead to immobility, adhesive capsulitis, or contractures. Cramps and spasticity are other sources of pain, as is increased pressure on the skin, bones, and joints owing, to immobiliy 24774 SECTION IL Intervention Strategies for Rehabi Impairments Related to UMN Pathology UMN loss is characterized by spasticity, hyperfiexia clonus, and pathological reflexes, such asa Babinski ot Hoffmann sign, and may also cause muscle weakness ‘As the disease progresses, UMN signs may decrease? Spasticty can eventvally lead to contractures and deformities, as well as cause dyssynergic movement pattems, abnormal timing, los of dexterity, and fatigue, all of which affece motor control and function.#!-6 For example, difficulties with the swing phase of gat secondary to distal spasticity and. decreased balance ‘owing to generalized spasticity are often sen in individ- tals with ALS. Impairments Related to Bulbar Pathology As bulbar UMNs and LMNs degenerate, spastic bulbar palsy or flaccid bulbar paly (respectively) develops. In in- dividuals with ALS a mixed palsy, which includes both, flaccid and spastic components, is common.** Dysarthria, impaired speech, can occur with either spastic or flaccid palsy, owing to weakness of the tongue and muscles of the lip, jaw, larynx, and pharynx. Initial symptoms include the inability to project the voice (e.g. shouting, singing) and problems with enunciation, With spastic dysarthria, the voice sounds forced, as more efort is needed to move air through the upper airway: whereas in flaccid dysarthria, the voice sounds hoarse or breathy. ‘With pharyngeal weakness, air in the mouth leaks into the nose during enunciation, resulting in a nasal tone. As the disease progresses, specch becomes more difficult and unintelligible, and eventually the individwal be- ‘comes anarthric>™4 Dysphagia, impaited chewing or swallowing, can also ‘occu with either spastic or flaccid palsy, Manipulating food inside the mouth or moving food into the esophagus is difficult, and swallowing is impaired. With flaccid bul- bar palsy, liquids may regurgitate into the nose because of pharyngeal weakness and the cough reflex may be weak ‘or absent, greatly increasing the risk of aspiration, Indi- viduals with spastic bulbar palsy will have uncoordinated closure ofthe epiglottis, which may allow liquids or solids to pass to the larynx.+*! Choking and slowed cating pat- tern are associated with dysphagia, placing the patient at isk for less than optimal fluid and caloric intake that results in weight loss and potentially cachexia.>* Individuals with ALS frequently experience sialorthea, ‘excessive saliva and drooling, because of an absence of automatic, spontaneous swallowing to clear excessive saliva, or because the lower facial muscles are too weak to close the lips tightly to prevent leakage.” Individuals with bulbar onset will experience this symptom relatively carly, Initially, the individual may begin to notice drool- ing at night (e.g. the pillow is wet in the morning); this eventually leads to needing to use a tissue repeatedly to wipe away the saliva Pseudobulbar affect is a term used to describe poor ‘or pathological emotional control. Spontaneous crying or laughter occurs inthe absence of emotional triggers or emotional responses are exaggerated and not related to the context. This symptom is commonly seen in in- dividuals with spastic bulbar palsy,24 and can occur in as many as 50% of individuals. Respiratory Impairments Respiratory impairments in people with ALS are related. to loss of respiratory muscle strength and a decrease in vital capacity (VC). AVC reduced to 50% of predicted is often associated with respiratory symptoms. Early signs and symptoms of respiratory muscle weakness may include fatigue, dyspnea on exertion, difficulty sleeping. in supine, fFequent awakening a night, current sighing, excessive daytime sleepiness, and morning headaches due to hypoxia. 656” Patients experiencing a gradual increase in respiratory muscle weakness will not complain of respiratory symptoms because they tend to decrease their overall level of physical activity owing to muscle weakness in the extremities. Although the decline of respiratory muscle strength differs among individuals, for the most part it tends to progress ata linear rate. [As weakness progresses, cruncated speech, orthopnea, dyspnea at rest, paradoxical breathing, accessory muscle use, and a weak cough are typically evident. A VC of less than 25% to 30% of predicted indicates significant risk of impending respiratory failure or death 5 If an individual does not receive ventilatory support, even- tual CO, retention will lead co acidosis, coma, and respiratory failure 6 Cognitive Impairments Although once considered rare outside the western Pacific region, cognitive impairments ranging from mild deficits” co severe frontotemporal dementia (FTDY" ate now considered part of the ALS disease spectrum.? A large prospective study found that 35.6% of patients with, ALS showed clinically significant cognitive impairment > ALS-associated FTD has been characterized by cognitive decline; executive functioning impairments; difficulties with planning, organization, and concept abstraction; and personality and behavior changes.”!/#"* Individuals with ALS, without ETD, have been reported to have a variety of cognitive impairments, including difficulties with verbal fluency, language comprehension, memory, abstract reasoning, and generalized impairments in intel: lectual function.’®778 Scudies have found that patients with bulbar-onset ALS are more likely to have cognitive impairments than patients with limb-onset disease."57 Rare Impairments Sensory pathways are spared, for the most part, in people with ALS, Some individuals may complain of vague, ill-defined sensory symptoms of paresthesia or focal pain. in the limbs. External ocular muscles are usually spared. in people with ALS; if degeneration occurs, it does so late in the course of the disease.>” Patients who havebeen maintained on ventilators for long periods of time ‘may develop the inability to voluntarily close the eyes or ophthalmoplegia, complete ocular paralysis.” ‘Motor neurons controlling the anal and vesicourethral sphincter muscles and muscles of the pelvic floor are gen- cezally spared, Urinary symptoms, such as urgency, obstruc- tive micturition, or both, have been reported, suggesting that supranuclear control over sympathetic, parasympa- thetic, and somatic neurons may be abnormal in ALS. DIAGNOSIS ‘With the exception of one genetic test, no definitive diagnostic test or diagnostic biological marker exists for ALS. For individuals with a clinical presentation of ALS, laboratory studies, EMG, nerve conduction velocity (NCY) studies, muscle and nerve biopsies, and neu- roimaging studies are used to support the diagnosis of ALS and to exclude other diagnoses. “The diagnosis of ALS requires the presence of (1) LM signs by clinical, elecuophysiological, or neuropatholog- ical examination; (2) UMN signs by clinical examination; and (3) progression of the disease within a region or to other regions by clinical examination or via the medical history. The absence of (1) electrophysiological and patho- logical evidence of other diseases that may explain the UMN and LMN signs; and (2) neuroimaging evidence of other disease processes that may explain the observed clinical and electrophysiological signs are also evaluated.” CHAPTER 17 Amyotrophic Lateral Sclerosis 775 Because of the variability in clinical findings in the early stages of ALS and the lack of absolute biological diagnostic markers, the World Federation of Neurology Research Group on Motor Neuron Disease established the EL Excorial criteria in 1994, and these were revised in 1998.” ‘These widely accepted criteria are considered standard for the diagnosis of ALS for clinical practice, therapeutic trials, and other research purposes. In the absence of pathological evidence, the diagnosis of ALS is classified inco clinically definite, clinically probable, clin- ically probable with laboratory support, and clinically possible categories (Fig. 17.5). A diagnosis of clinically definite ALS is defined as both UMN and LMN findings in at least three of four regions (bulbar, cervical, thoraci, or lumbosacral) or UMN and LMN signs in the bulbar region and at least two spinal regions. Clinically probable ‘ALS is defined as UMN and LMN signs in two regions, with at least one UMN finding rostral to the LMN find- ings. Clinically probable, laboratory-supported ALS is defined as UMN and LMN clinical signs in one region. only, or UMN signs alone present in one region and. MN signs defined by EMG criteria present in at least two regions. ‘The EMG criteria include signs of active denervation, such as fibrillation potentials and positive sharp waves: and signs of chronic denervation, such as large motor unit potentials (increased duration, increased, proportion of polyphasic potentials, increased ampli- tude) and unstable motor unit potentials. Clinically Figure 17.5 El Escorial Criteria for the Diagnosis of ALS. (Note:The Suspected ALS category was removed when the E1 Escorial criteria were revised)776 SECTION It Intervention Strategies for Rehab ‘possible ALS is defined as UMN and LMN signs found together in only one region, or UMN signs found alone in two or more regions, or LMN signs found rostral to UMN signs and the inability to establish a diagnosis of dlnically probable, laboratory-supported ALS.” II DISEASE COURSE ALS has a progressive and deteriorating disease trajec- cory, and the progression ftom pathology to impairments to activity limitations to participation restrictions is inevitable. Although the disease course varies among individuals, with time from onset co death ranging from several months to 20 years, studies have found the average duration of ALS to be between 27 and 43 months, and the median duration to be between 23 and 52 months.357#01 Five-year and ten-year survival rates range from 9% to 40% and 8% to 16%, respec: tively.79285 A 50% survival probability ater the first sympcom of ALS appeats is slightly greater than 3 years, unless mechanical ventilation is used to sustain breath- ing In most patients, death occurs within 3 to 5 yeats afer diagnosis and usually results from respiratory failure > M PROGNOSIS Age at time of onset has the strongest relationship to prog. nosis. Studies have found that patients less than 35 to 40 years of age at onset had better 5-year survival rates, Paychologist Payeniarist than older individuals #1445 Individuals with limb- onset ALS have a better prognosis than those with bulbar onset ALS; 5-year survival rates were reported to be 37% and 44%, compared to survival rates of 9% and 16% for patients with bulbar-onset ALS.*45 Less severe involve ment at the time of diagnosis, a longer interval between, onset and diagnosis, and no symptoms of dyspnea at onset ate other factors associated with a better prognosis.°8 ‘A study of 144 individuals with ALS found that those individuals with psychological well-being had significantly longer survival times compared to those with psycholog. ical distress. Mortality rates were found to be 6.8 times greater in those experiencing psychological distress, and. the relationship was independent of age, disease severity, and length of time from diagnosis *7 These findings were confirmed in a later study that found degeee of physical disability, disease progression, and survival could be predicted by the patient's psychological status ** MANAGEMENT Patients with ALS may receive care in a variety of health, care settings. Care via specialized centers or clinics that provide a comprehensive and multidsciplinary approach, is considered the most advantageous owing to the pro- gressive nature of the disease and continually changing patient status (Fig. 17.6). A study comparing a cohort of patients attending a multidisciplinary clinic versus Figure 17.6 Multidisciplinary approach to the care of the individual with ALS. ALSA = ‘Amyotrophic Lateral Sclerosis Foundation; MDA = Muscular Dystrophy Association,those attending a general neurology practice found the median survival of the ALS clinic cohort was 7.5 months longer than for patients in the general neurology cohort. “The findings indicated that attendance at the ALS clinic ‘was an independent covariate of survival, suggesting that active and aggressive management enhances survival”? “The Amyotrophic Lateral Sclerosis Association (ALSA) and the Muscular Dystrophy Asociation (MDA), nonprofit voluntary health agencies, have developed standards for ALS clinics and centers. Clinics and centers that meet ALSA’s standards and pass a rigorous application and site vist are certified as ALSA Centers. MDA centers, that conduct ALS research and have staff with expertise in dealing with ALS earn special designations as MDA. ALS Research and Clinical Centers. Disease-Modifying Agents Currently, thete is no eure for ALS, although a number of clinical drug trials are ongoing. In 1995, the Food and Drug Administration approved riluzole (Rilutek), a glutamate inhibitor, for the treatment of ALS. The standard dose of riluzole is one 50 mg tablet two times a day, and side effects include liver toxicity (which re- ‘quires discontinuation), asthenia, nausea, vomiting, and dizziness, Evidence suggests the effects of riluzole to be modest, extending survival for 2 to 3 months.909! Symptomatic Management Discase-moditying agents currently available are not curative and may extend survival fora very shor time. Be- cause the pathological process cannot be reversed and is progressive in nae, the context of medical management for individvale with ALS may be considered palliative. As defined by the World Health Organization, palliative care is “an approach cha improves the quality of lit of patients and their families facing the problem associated with life-threatening illness, through the prevention and relief of suffering by means of early identification and impoc- cable assessment and treatment of pain and other prob- lems, physical, psychosocial and spiritual"? © Although there is no cur for ALS, ie sill considered a “tacatable disease” and rehabilitation plays an integral role in the overall comprchensive care of the patient. Medical management i symptomatic and individualized and involves supportive care to address impairments a: they arise, Medical management may include he prescription of anci-cramping and antispasticity agents, ini vise every 3 months | Early dysphagia detected | <> Nutritionist or speech language pathologist referral Monitor body weight Dysphagia assessment itrumers* Monitor respiratory status (FVC, MIP, ete) "Nutritional education, including PEG \ > ini vist every 3 month | Symptom progression® or continuing weight lass | Discuss PEG to stabilize weight and possibly protong survival 1 Fvc a0%-so% Moderate risk “or PEG | |<] Anesthesia evaluation PEG decined + Experienced gastroenterlogst ‘Respiratory suppor during PEG it needed ¥ v Oral inake (ral intake as tolerated as tolerated Enteral nutrion Pallatve V nycraton| via PEG as needed Palliative NG feeding Figure 17.7 Algorithm for nutrition management. Note that bolded text represents evidence- based information; text in italics denotes consensus-based information.» For example, Questions #1 to 3 (bulbar questions) from the Amyotrophic Lateral Sclerosis Func- tional Rating Scale—Revised (ALSFRS-R), or other instrument. For example, prolonged mealtime, ending meal prematurely because of fatigue, accelerated weight loss due to poor caloric intake, family concern about feeding difficulties. FVC = forced vital capacity supine or erect); IV = intravenous; MIP = maximum inspiratory pres- sure; NG = nasogastric; PEG = percutaneous endoscopic gastrostomy. Fram Miler, RG, etal (ALS. Practice Parameters Task Forel: The care ofthe patient wth amyotrophic lateral sclerosis (an evidence-based review). Report ofthe quality Standards Subcommittee of the American Academy of Neurology. Neurology 52(711311, 1998, p 1316, with permission) common concurrent diagnosis was dehydration and for careful attention to nutritional and hydration status, malnutrition, present in 36% of patients.*7 Regardless of whether poor nutritional status results from dyspha- gia, hypermetabolism, or inability to cat due to UE muscle weakness, research findings emphasize the need in particular with individuals with impaired oral inrake orarm or hand weakness limiting self feeding, Initial treatment of dysphagia is directed coward (1) dietary modifications, such as adapting foods andFigure 17.8 Algorithm for respiratory NIV tolerate? — vf Yes v CHAPTER 1 Amyotrophic Lateral Sclerosis 779 ALS Diagnosis | ‘Symptom evaluation and PFT; intiave NIV orientation Pheumovax and tu vaccine PCEF < 270 Limin | Treat sialorhea/phiogm problems ‘Mechanical suction Manual assisted cough Consider NIV | Mechanical inexsufflator management. Note that bolded text, represents evidence-based inform: tion; text initalics denotes consensus- based information. FVC =forced vital ‘capacity (supine or erect); MIP = maximal Further education regaraing documented berets Evaluate reasons {for nonadherence ‘Ongoing evaluations and adjustment of pressures ¥ inspiratory pressure; NIV = noninvasive ventilation; PCEF = peak cough expira- tory flow; PFT = pulmonary function Reintroduce NIV [> successtul tests; SNP = sniff nasal pressure. From Miler, RG, etal (ALS Practice Parameters Task Force): The careof the patient with amy- ‘trophic lateral sclerosis (an evidence-based review). Report ofthe quality Standards 1 ; v Unable to maintain PO, > 80%, PCO, = 50 mm Hg of unable to manage secretions ‘Subcommitte ofthe American Academy ‘of Neurology. Neurology 52(7:1311, 1939, 1317, with permission.) Hospice reforal for paliatve care Invasive vention fluid consistencies for easier and safer swallowing: (2) patient education regarding dietary strategies for maximizing calories and nutrients and maintaining adequate hydration; and (3) adaptations to promote swallowing such as tucking the chin down during swallowing or performing clearing cough after each swallow.2* ‘As dysphagia progresses, the time required to con. sume a meal gradually increases owing to fatigue, in cxeased difficulty chewing, and frequent choking. Ic is rot uncommon for these eating difficulties to cause an accelerated weight loss. In these circumstances a PEG may be recommended. A PEG is a type of gastrostomy. tube inserted via endoscopic surgery that creates a petmanent opening into the stomach for the introduc: tion of food. A PEG is useful for stabilizing body wweight/mass.™ Although there is no firm evidence, for ‘optimal safety and efficacy the PEG procedure should be offered to the patient and completed before the indi vidual’s VC falls below 50% of predicted at the time of the procedure..® Studies have found that PEG insertion. ay prolong survival. Patients with PEG were found live 1 to 4 months longer than those individuals who refused PEG or were deemed ineligible for the proce. dure. Survival was greatest for patients with a VC greater than 50% predicted at the time of the procedure.100101 Icis important for physical therapists to be aware that a PEG does not prevent the risk of aspiration, 02108 Management of Respiratory Impairments Respiratory impairments place the patient at risk for respiratory tract infections. Important management con- siderations include (1) pneumococcal and yearly in- fluenza vaccinations: (2) prevention of aspiration; and. (3) effective oral and pulmonary secretion management. Supplemental oxygen must be used with caution because ic can suppress respiratory drive, exacerbate hypoventi: lation, and ultimately lead to hypercarbia and respiratory arrest. Typically, supplemental oxygen is recommended. only for individuals with concomitant pulmonary disease780 SECTION It Intervention Strategies for Rehabilitation ‘or asa comfort measure for patients who decline venti latory support ‘When VC decreases to 50% of predicted, positive pressure noninvasive ventilation (NIV) is recom: mended. 52° Noninvasive ventilation has been shown to decrease symptoms of hypoventilation and increase survival time by several months.!*1°7 In addition, im- provement in cognition has been noted afier NIV init ation.*? When NIV can no longer be tolerated oF it is no longer effective, a decision must be made between inva sion ventilation (IV) with tracheostomy via surgical in- tervention or hospice cate to address late-stage respiratory, symptoms, Owing to the emotional, social, and financial burden of IV, patients and families must be carefully informed of the multiple costs and benefits of the inter vention. No controlled studies of specific strategies for ventilation withdrawal have been published, although case studies provide practical advice.” Conditions for withdrawal of ventilation are discussed before, ot at the time of, instituting IV because the patient may become tunable to communicate his or her wishes as the disease progresses. 589° Manually assisted coughing techniques and use of a mechanical insufflation-exsufflation (MI-E) device are used to facilitate clearance of respiratory and oral secre- tions (Fig. 17.9). ‘the M-E device is designed to in- flate the lung with positive pressure and assist cough with negative pressure through the flip of a switch. A positive-pressure breath of 30 to 50 cm H,O over a 1-to 3-second period via an oral-nasal mask or tracheal airway is provided. ‘The airway pressure is then reversed abruptly t© ~30 to -50 cm HO and maintained for 2c 3 seconds. A peak expiratory “cough” flow within normal range is achieved, thereby assisting with the clearance of secretions.!0* Management of Dysarthria Dysarthria impairments are managed primarily by a speech-language pathologist. Initial speech changes are usually managed with intelligibility strategies, Figure 17.9 Mechanical insufflation-exsuffation (MIE) device. (Courtesy of JH Emerson Co, Cambridge, MA 02140) such as having the individual exaggerate articulation, or decrease the rate of speech; and environmental modifications, such as decreasing background noise. As the severity of dysarthria progresses, management will focus on decreasing the patient’s dependence on. speech as the primary method of communication. Interventions first include “low-tech” devices, such. as using a writing board or pad and pen for patients with adequate hand function or using an alphabet board. A progression is then made to more “high-tech” devices, such as computers with voice synthesizers or single-switch, scanning computerized communication systems 205110 ‘A palatal lift prosthesis may be prescribed for individ. uals with good articulation but who have a breathy voice quality or decreased loudness because of excessive air loss through the nose. The device, a dental appliance designed to attach to the existing teeth and to elevate the solt palate, is custom-made by a prosthodontist. It allows the soft palate to close around the surrounding, structures such as the pharynx, making verbal commu: nication more understandable by reducing or elimina ing hyperasal speech. ‘The device also lowers the hard. palate, which reduces tongue movement allowing speech to be less fatiguing.!! Findings from a retro- spective study of 25 patients with ALS treated with a palatal lift indicated 21 patients showed improvement in their dysarthria, specifically in reduction of hyper: nasality, with 19 patients benefiting at least moderately for 6 months. Management of Muscle Cramps, Spasticity, Fasciculations, and Pain Anticonvulsant medication such as phenytoin (Dilantin) and carbamazepine (Atretol, Tegretol) may be prescribed. for muscle cramps, if they are not relieved with a pro. gram of muscle stretching and adequate hydration and. nutrition. Both of these medications can cause gastroin- testinal upset and rash, and carbamazepine can cause sedation. Benzodiazepines, such as diazepam (Valium) clonazepam (Klonopin), of lorazepam (Ativan), can also be prescribed for muscle cramps, and side effects may include sedation, dizziness, respiratory depression, and. increased weakness. Benzodiazepines, especially diazepam, may be prescribed for spasticity, although baclofen (Cioresal) and tizanidine (Zanaflex) are more commonly used. Side effects include weakness, fatigue, sedation, and hypotension.*#!1! Patients with brisk, widespread fasciculations are generally instructed to avoid or minimize caffeine and nicotine. Lorazepam (Ativan) may be prescribed to decrease the intensity of the fasciculations.*4 Depending on the etiology of pain, a variety of man- agement strategies may be utilized. Mild pain or pain associated with joinc discomfort is usually addressed. with analgesics, such as acetaminophen or nonsteroidal anti-inflammatory drugs (NSAIDs). For more severerefractory pain, narcotics such as codeine, hydrocodone, or methadone may be prescribed. In the terminal stages of ALS, morphine may be administered to provide analgesia, sedation, and relief from respiratory distress 3411T ‘Management of Anxiety and Depression Anxiety and depression can greatly affect a patient's and his or her family’s quality of life, as well as the ability to cope with and adapt to the progressive changes and losses of the disease. Thus, pharmacotherapy and psy- chological counseling are important management strate gies for addressing the anxiety and depression that can develop. Individuals with depression may be prescribed an SSRI, such as fluoxetine (Prozac) or sertraline (Zoloft). Ic is important to note that antidepressant effects may not occur for several weeks after initiation of the medications, and side effects may include agitation and insomnia. If the patient presents with depression and insomnia or agitation, a tricyclic antidepressant, such as amitripcyline (Elavil) or imipramine (Tofranil), is preferred 5498 Benzodiazepines, such as chlordiazepoxide (Librium), clorazepate, diazepam, and flurazepam (Dalmane), may be prescribed for anxiety or for patients with depression and insomnia. For patients whose respiratory status is affected, a non-benzodiazepine anxiolytic, such as buspirone (BuSpar), is preferred.54951) CHAPTER 17 Amyotrophic Lateral Sclerosis 781 lM FRAMEWORK FOR REHABILITATION As previously described, the course of ALS cannot be altered and eventually the individual will become dependent in essentially all aspects of mobility and. self-care. However, appropriate rehabilitation pro- grams should be designed and implemented to allow the individual to maintain his or her independence and function for as long as possible, within the context of his or her goals and resources, throughout the discase and across health care settings. Because of the progressive nature of ALS, it is imperative that the physical therapist not only addresses an individual's current problems, but also plans ahead for future problems.112128 ‘A large body of evidence co help guide physical therapy decision making is currently unavailable. As identified carer, ALS has a progressive and deteriorating, disease trajectory, with inevitable progression to disabil- ity. However, chere is great variability among individuals, across the disease trajectory. Staging ALS into early, ‘middle (carly-middle and late-middle), and late stages based on impairments, activity limitations, and partici- pation restrictions may assist the therapist in designing, appropriate and realistic interventions throughout the disease process, as well as anticipate the evolving needs of individual patients" (Fig. 17.10) ‘Therapeutic Care Continuum Disease Eatly Mile Late Stage Stage 1 Stage Stage 1 1 “= Fewiminimal impairments “Nofminimal activity imitations “No participation restrictions Evaluation Findings + Increasing numberleeverty of impairments * Minimalimoderateaetiviy limitations + Minimalimoderate paricpaion restrictions + Numerousieevere impairments + Severe activity limitations + Severe paricipaton restrictions 1 Procedural 1. Preventive Intervention 2 Restorative Strategies 3. +1- Compensatory Pationttamiyicaregiver education and taining Psychological support Referral to other healt care professionals + denotes may include; - denotes may notinclude Figure 17.10 Framework for rehabilitation for individuals with ALS. (From Dal Bello Haas, V:A Framework for rehabilitation in degenerative diseases: Planning care and maximizing qual of life. Neurology Report {now NPT) 26(3):115, 2002, p 116, with permision,)782 SECTION I Intervention Strategies for Rehabi In the early stage of the disease, ALS will manifest as a variety of signs and symptoms recognized by the patient as abnormal. The resultant impairments may ‘oF may not cause minor activity limitations and no participation restrictions are present. In the middle stage of ALS, the patient experiences increasing signs and symptoms, and develops an increase in the num: ber of impairments and the severity of impairments. Minimal to moderate activity limitations will be noted and participation restrictions will develop. In the late stage of ALS, disease progression leads to numerous and increasingly more severe impairments. The patient becomes increasingly more functionally limiced owing to lack of voluntary motor control and numerous participation restrictions ensue. The patient becomes dependent in essentially all aspects of mobility and self-care, and may require mechanical ventilation to address respiratory compromise, if not already ventilated." ‘Within this framework, impairments, activity limita tions, and participation restrictions are managed through restorative, compensatory, or preventative physical ther apy interventions. These interventions should be tailored Co the stage of the disease, keeping in mind individual variability throughout disease course (e.g., presence of ‘cognitive impairments or respiratory signs and symptoms) and disease progression (eg. slowly progressing versus fast progressing), and grounded in evidence-based research ‘whenever possible. The patient’ goals are paramount, and psychosocial factors that may influence the patients de- cision making, such as acceptance of the diagnosis, and social and financial resources must be considered.18 PHYSICAL THERAPY EXAMINATION ‘Ac any one time, a variety of body regions can be affected by ALS and in various combinations. Impairments may ‘occur as a direct result of the pathology (direct impair: ‘meni, as sequelae tothe pathology (indirect impairment), ‘or may be the result of multiple underlying origins (com: ‘posite impairments). Therefore, a careful and comprehen: sive examination is required to determine the extent of involvement and the impact of involvement on activity limitations and participation restrictions. Reexamination at regular incervals is necessary to determine the extent and rate of progression of the disease. However, at times it may be difficul co differentiate between the progres: sive course of the disease and the lack of impact of the interventions. In considering the tests and measures to include in a reexamination, the physical therapist needs to weigh the benefits against the psychological impact of repeating tests and measures when the patient is progressively deteriorating, ‘Ths is especially true in the late-middle and late stage of the disease. It is important for the physical therapist to reexamine, monitor, and evaluate changes, because some medical devision making may be based on the physical therapists findings, for example, the patient’s percent predicted VC and the timing of PEG placement. "The patient's goals and individual psychosocial factors, rate of disease progression, extent and area of involvement, stage of the disease, and respiratory and. bulbar involvement that may affect the patient's ability to participate all need to be taken into account when, structuring the initial examination. ‘The types of data generated from the patient history and interview ate pre- sented in Chapter I, Clinical Decision Making. When. collecting these data, determining what is important, rl evant, and valued by the individual patient is key. By understanding what is most meaningful to a patient, the physical cherapist can narrow the gap between a patient’ expectations and hopes and actual experiences through, realistic and appropriate interventions. For example, a young mother with ALS may inform the physical ther apist her priority is caring for her children rather than, maintaining employment. ‘Thus, the initial examination would be structured around abilities and activities re lated to home, rather than work. ‘Many of the tests and measures described in this text ate generally appropriate components of a comprchen- sive examination for an individual with ALS. However, selection is always based on specific patient need. The tests and measures frequently applicable to patients with ALS include examination of sensory function, muscle performance, motor function, coordination and balance, gait, functional status, the environment, respiratory function, and cognitive function (see Chapters 3, 5, 6, 7, 8, 9, 12, and 27). The following, section presents areas that typically warrant emphasis during the examination, Cognition No ALS-specifie cognitive test or measure exists. If de- ‘mentia or cognitive impairments ae suspected, executive function, language comprehension, memory, and ab- stract reasoning should be examined. The Mini-Mental State Examination’ has been used in clinical studies, although it may not be sensitive to frontotemporal function impairments. Referral for a neuropsychologieal evaluation may also be indicated to identify specific cognitive impairments Psychosocial Function ‘As depression and anxiety are common in individuals wich ALS, screening is important and referral to a psychologist or psychiatrist for further evaluation may be indicaced. ‘the Beck's Depression Inventory,!'5 the Center of Epidemi- logic Study Depresion Scale.) the Hospital Anxiety and Depression Scale (HADS),!"? and the State-Trait Ansiety Inventory'* have been used in clinical studies Pain Pain is common in individuals with ALS and should be examined subjectively and objectively, using a VisualAnalogue Scale (VAS) for example. Pain is not necessarily a direct impairment of ALS, but rather an indirect (decreased ROM, adhesive capsulitis) or a composite impairment (joint malalignment secondary to spasticity and faulty posture). Further examination of underlying ‘causes of pain is often required Joint Incegrisy, Range of Motion, and Muscle Length Functional ROM, active, active-asssted, and passive range ROM, muscle length, and soft tissue flexibility and ex- tensibilty should be examined using standard methods Muscle Performance Specific deficits of muscle strength, power and endurance, and muscle performance during functional activities should be determined. Specifie deficits can be measured with manual muscle testing (MMT), isokinetic muscle strength testing, or handheld dynamomety. In clinical tials, muscle strength has been examined as maximum ohantary isometric contraction (MVIC) using a stain gauge Censiometer system.!!? This method eliminates muscle length and velocity as faetors in testing and produces reliable, valid, interval data.1!-!22 MVIC is considered the most direct technique for investigating motor unit loss, and has been used extensively for examining muscle strength in individuals with ALS for the past 10 years. Its range and sensitivity have been validated by several natural history studies 51725 However, MVIC testing re- ‘quites specialized equipment and training in its use. Test reliability of MMT and MVIC scores among uniformly tained physical therapists at several instivue tions has been examined. Reproducibility between MMT and MVIC was found to be equivalent. Sensitiv- ity to detect progressive muscle strength changes in in- dividuals with ALS favored MMT. However, 6 muscles were tested with MVIC. MMT; thus, the difference in detecting change was largely accounted for by the number of muscles sampled by MMT versus MVIC.24 und 34 muscles were tested with Motor Function Impairments in dexterity, coordination of large move- ‘ment patterns, as well as gross and fine motor control ‘ay be evident owing to spasticity and muscle weakness. Hand function and initiation, modification, and control ‘of movement patterns should be examined. Tone and Reflexes Muscle tone may be examined using the Modified Avhworth Seale 2 Deep tendon and pathological reliexes should be tested to distinguish beoween UMN and LMN involvement. Cranial Nerve Integrity ‘The cranial nerves commonly affected by ALS include V, VII, IX, X, and XI. Cranial nerves should be tested CHAPTER 17 Amyotrophic Lateral Sclerosis 783, to determine the extent of bulbar involvement. Screening, for oral motor function, phonation, and speech produc: tion can be accomplished through the interview and. observation. Referral to a speech-language pathologist is recommended. Sensation If the patient complains of sensory symptoms or if sensory involvement is suspected, sensory testing should be completed. Postural Alignment, Control, and Balance Seatic and dynamic postural alignment and body me- chanics during self-care, functional mobility skills, func tional activities, and work conditions and activities should be examined, Postural stability, reactive control, anticipatory control, and adaptive postural control should also be determined. No ALS-specific balance test cor measure exists, A variety of balance status measures, originally designed for use with other patient popula tions, including the Tinetti Performance Oriented Mobil- ity Arsesrment (POMA), 2 the Berg Balance Scale," che Timed Up and Go Tert (TUG), and the Functional Reach Test? can be used. Low total Tinett Balance Test scores, indicating impaired balance, were found co be moderately to strongly related to LE muscle weakness and disability in individuals with ALS.%°51 Kloos eval! suggest that the POMA is a reliable measure for individuals in the early or early-middle stages of ALS. A scudy of 31 individuals with ALS who underwent monthly TUG, Amyotrophic Lateral Sclerosis Func tional Rating Scalo—Revised (ALSFRS-R), forced vital capacity (FVC), MMT, and quality-of-life assessments for 6 months found that the TUG was significantly associated with the chance of falling. 432 Gait No ALS-specific gait test or measure exists. Documen: tation of gait within a particular time period (e.., within 15 seconds) or over a certain distance (c.g., 10 fect [3 meters)) has been measured in clinical trials, Gait stability, safety, and endurance should be examined. Energy expenditure, alignment, fit, practicality, safety, and case of use of orthotic and assistive devices should also be examined at regular intervals. Respiratory Function Determination of respiratory status and function in- cludes examination of respiratory symptoms and muscle function, breathing pattern, chest expansion, respiratory sounds, cough effectiveness, and VC or forced vital capacity (FVC) using a handheld spirometer. Supine FVC may be a better indicator of diaphragm weakness than erect FVC, and maximal inspiratory pressure (MIP) ay also be useful in respiratory function monitoring because it can detect early respiratory insufficiency.%# Sniff nasal pressure (SNP) may be effective in detecting,784 SECTION I Intervention Strategies for Rehabi hypercapnia, and peak cough expiratory flow (PCEF) is the most widely used measure of cough effectiveness. Aerobic capacity and cardiovascular-pulmonary en. durance may be tested in the early stages of ALS using standardized, modified protocols to evaluate and moni- (or responses to aerobic conditioning, Integument In general, even in the late stage of ALS skin integrity is rarely a problem. Skin inspection should be used to ‘examine contact points between the body and assistive, adaptive, orthotic, protective, and supportive devices, mobility devices, and the sleeping surface. Such inspec- tion is especially important when the patient's mobility becomes increasingly more dependent. If present, swelling should also be examined and monitored, Swelling ofthe distal limb may develop owing co lack of muscle pumping action in a weakened extremity. Functional Status Functional mobility skills, safety, and energy expendi care are important considerations, Basic and in: mental activities of daily living and the need for adaptive equipment should be examined. The Func- tional Independence Measure (FIM) has been used to document functional status in clinical erials. ‘The Schwab and England Activities of Daily Living Seale! is an 11-point global measure of functioning that asks the rater to report activities of daily living (ADL) function from 100% (normal) to 0% (vegetative functions only), and has been used to examine function in individuals with ALS (Appendix 17.A). The ALS Ciliary Neurotrophic Factor (CNTF) Treatment Study. Group found the scale to have excellent test-retest reliability, to correlate well with qualitative and quanti- tative changes in function, and to be sensitive to changes Environmental Barriers “The patient’s home and work environments should be ‘examined for current and potential barrier, access, and safety Fatigue Fatigue is very common in individuals with ALS. No ALS-specific measures exist the Fatigue Severity Scale36 has been used in clinical trials. DISEASE-SPECIFIC AND QUALITY-OF-LIFE MEASURES Disease-Specific Measures “The ALS Functional Rating Seale (ALSFRS)' and the revised version, ALSERS-RI” (Appendix 17.B) examine the functional status of patients with ALS. ‘The patient is asked to rate his ot her function using a scale from 4 (normal function) to 0 (unable to atcempt the task). The original scale, che ALSFRS, correlated positively with objective measures of UE and LE strength and was found to be valid and teliable for measuring the decline in function that results from loss of muscular strength." "The ALSFRS-R was expanded to include additional res piratory items, and was found to have internal consis: tency and construct validity, and to have retained the properties of the original scale.!57 ‘Telephone adminis: tation of the ALSERS-R has also been found to be reli able.!38 Other disease-specific scales include the Appel ALS Scale (AALS), 3° the ALS Severity Scale (ALSSS), 4° and the Norris Seale Quality-of-Life Measures Quality of life in individuals with ALS has been exam ined with generic measures, such as the SE-36,!® the Schedule for Evaluation of Individual Quality of Life— Direct Weighting (SEIQoL-DW),! and the Sickness Impact Profile (SIP). “The Amyotrophic Lateral Sclerosis Asessment Question- naire (ALSAQ-40),!8 an ALS-specific quality of life measure, contains 40 items that represent five distinct areas of health: mobility (10 items), ADL (10 items) eating and drinking (3 items), communication (7 items) and emotional functioning (10 items). ‘The questions refer to the patient's condition during the past 2 weeks and responses are given on a five-point Likert scale. “The ALSAQ-40 measutes health status in each domain, using a summary score from 0 (best health status) to, 100 (worst health status). The validity and reliability of this instrument have been examined and reported.! 46 "The ALSAQ-40 has been shortened to 11 items and also appears to be valid and reliable.” PHYSICAL THERAPY INTERVENTIONS ‘The role of the physical therapist in management of individuals with ALS and the extent of interventions provided vary depending on whether or not the therapist is working as a member of a team specialized in ALS care or as an independent or clinic based therapist. Ad ditional variables include the availability of other health, care professionals in the practice setting and the reason. the individual is seeking physical cherapy (e.g. specific ALS-related problem versus a co-morbidity problem such as arthritis). Restorative intervention is directed toward remedi ating or improving impairments and activity limitations. In the early and middle stages of ALS, restorative inter ventions are temporary at best because disease progres sion is expected and permanent loss of function and. disability is likely. Restorative interventions in the late stage of ALS are for the most part directed solely toward. remediation of impairments that result from other sys tems pathology (e.g., pressure sores, edema, pneumonia, atelectasis, adhesive capsulits). Compensatory intervention is directed coward mod: ifying activities, asks, or the environment to minimizeactivity limitations and participation restrictions. In the carly and middle stages of ALS, tasks or activities may be adapted to achieve function. As the disease progresses, increasing environmental adaptations will be necessary (0 maintain and promote function.!!3 In the early and catly-middle stages of ALS, preven- tative intervention is directed toward minimizing poten- tial impairments such as loss of ROM, aerobic capacity, oor strength, preventing pneumonia of atelectasis, and activity limitations. Beginning an eatly prevention pro- gram may alter impairments and maintain physical func- tion temporarily, and may also improve wel-being and decrease fatigue, as well as the secondary effects of im- mobility. In the late-middle and late stages, che pathology is more advanced and mobility becomes progressively restricted. In these stages, it may be extremely difficult or impossible co prevent impairments and activity limica tions that are directly related to the nervous system pathology. ‘Thus, the role of prevention is tertiary, in ‘order to mitigate the effects of the pathology that lead to impairments in other systems (e.., educating caregivers about a passive ROM exercise program to prevent adhe- sive capsulitis in the shoulder).!!3 In general, the role of the physical therapist includes the following: + Promoting independence and maximizing function throughout the stages of the disease, through restora~ tive and compensatory interventions that address impairments, activity limitations, and participation Promoting health and wellness in the early and early-midale stages of the disease through restorative and preventative interventions Providing alternative means of carrying out func- tional activities with adaptive equipment and alternate methods for performing tasks and activi- ties through compensatory interventions as the disease progresses Minimizing or preventing complications through preventative interventions throughout the course of the disease + Providing education, psychological support, and recommendations for equipment and community resources to assist in adapting to the disease progression! Owing to the individual variability of the disease onset, disease course, and disease progression, patients with ALS will present with unique and different sets of problems: thus, interventions will vary. As described catlier, interventions are directed mainly toward ad- dressing activity limitations and participation restric tions, because often the impairments causing the limitations and restrictions cannot be altered. However, in the carly and early-middle stages of ALS, it may be possible to direct treatment toward the underlying CNS impairments, and perhaps postpone the onset of partic ular activity limications. For example, a study of patients CHAPTER 17 Amyotrophic Lateral Sclerosis 785 in the eatly stages of ALS (FVC 290% predicted and. ALSERS 230) who engaged in moderate load, moderate resistance exercises were found to have higher ALSFRS scores and SF-36 Physical Function scores compated to a matched control group who performed stretching ex excises. Patients and therapists must understand that any beneficial effects of an early prevention program, will be short cerm and will not have an impact on the overall course of the disease. Much mote research into the effectiveness of interventions for individuals with ALS is needed In developing a POC, in addition to the patient's goals, the therapist must also consider the rate of disease progression, the extent and area of involvement, stage of the disease, respiratory and bulbar factors that may affect participation, timing of the intervention, patient accept ance and motivation, life support choices, availability of psychosocial support, and resources Some patients may view the need to use adaptive equipment, such as an ambulatory assistive device ot wheelchair, as a definitive marker for disease pro- gression and impending death. This may cause the patient to be hesitant to accept the recommended aid, or device as a means of maintaining some aspect of control over the disease. ‘The physical therapist will be required to maintain a balance between being realistic about what can be achieved and providing a sense of hope, not helplessness, when discussing intervention options. An overview of ALS disease stages and general intervention strategies is presented in Table 17.3 Common impairments and activity limitations associ- ated with ALS and their respective interventions are described below. Cervical Muscle Weakness Progressive cervical extensor weakness will cause the head to fall forward, resulting in overstretching of the posterior musculacure and soft tissues. This may cause bouts of cure pain or develop into anterior muscle tight- ness or a chronic cervical syndrome. Some patients will compensate for the forward head position by increasing, lordosis, as chey attempt to maintain their posture during ambulation. For mild to moderate cervical weakness, a soft foam collar may be worn during specific activites, Soft collars are comfortable and usually well tolerated. However, wear-induced compressibility requires that they be re- placed frequently. For moderate to severe weakness, a semirigid or rigid collar is prescribed. These are usually made of padded rigid plastic or leather and provide very firm support. Patients may find the collars very warms; may experience discomfort at points of body contact, such as the chin, mandible, sternum, or over clavicles; ray feel pressure on the trachea and may feel confined. Several types of collars are presented in Figures 17.11 and 17.12, and the pros and cons of individual collar types are summarized in Table 17.4786 SECTION I Intervention Strategies for Rehabilitas SCS EY Common Impairments and Stage __ Activity Limitations Interventions Early IMild to moderate weaknessin specific _Restorative/Preventative muscle groups + Strengthening exercises*!4278179 Difficuty with ADL and mobility + Endurance exercises'#® ‘toward the end of this stage + Active ROM," active-asssted ROM, stretching exercises Compensatory + Determine potential need for adaptive or assistive devices + Determine potential need for ergonomic modifications of home/workplace + Energy conservation + Educate the patient about the disease process, energy conservation, and support groups Middle Progressive decrease in mobility, ‘Compensatory ‘throughout stage + Support weak muscles (assistive and supportive devices, Wheelchair needed for long distances; adaptive equipment, slings, orthoses) increased wheelchair use toward end « Modifications to workplace/home (eg. install ramp, move ofstage bedroom to first floor) Severe muscle weakness in some + Wheelchair prescription groups; mild to moderate weaknessin __« Education of caregivers regarding functional training other groups Preventative Progressive decrease in ADL sills + Active*! activeassstve, and passive ROM, stretching exercises ‘throughout stage + Strengthening exercises!#”1782 (early midale) Pain + Endurance exercises" (early middle) + Determine need for pressure-relieving devices (eg, pressure distributing mattress) ate Wheelchair dependent orrestrictedto Preventative bed + Passive ROM Complete dependence with ADL + Pulmonary care* Severe weakness of UE,LE,neckand _« Hospitalbed and pressure-elleving devices trunk muscles + Skin care, hygiene* Dysarthria, dysphagia Compensatory Respiratory compromise + Caregiver education regarding transfers, positioning, turning, Pain skin care + Mechanical lit ‘dap om Dol Bele-Hans"™= > wth pemision ‘hay be resoratve » Some patients with combined cervical and upper ‘thoracic weakness may benefit from a cervial-thoracie orthosis, ora Sternal Occipital Mandibular Immobilizer (SOMD. These devices provide greater support, but are more expensive and heavy and may be difficule to don and doff. For severe or intractable neck weakness, referral to an orthotist for a custom-made device may be necessary In addition to wearing collars, individuals with cer- vical weakness may also benefit from taking frequent rest periods: supportive seating, such as high-back chairs fo fecliners; tilt-in-space oF reclining wheelchairs: clevating reading material; and education about good arm support for prolonged sitting, proper use of head es of clung LL = lower extrem ROM = ange of meson: UE = upper ete rest when riding in a car, and ergonomic changes for work stations. Ie is important to note that when trunk. weakness accompanies neck weakness, positioning for head support becomes more challenging. Dysarthria and Dysphagia In collaboration with the SLP and nutritionist, che physical dherapist ean play a role in managing dysarthria and dysphagia by addressing the patient’s head and twunk control and position in sitting. In addition, the physical therapist can reinforce the use of strategies for eating and swallowing (eg. chin tuck), the use of prescribed communication devices, and the need for food consistency modifications. Because patients are at