SPINAL

MUSCULAR
ATROPHY
BRIEF HISTORY
 (1891-1894)
 Werdnig (1891 and 1894), Hoffmann (1893), and Thomsen and Bruce
 First described the classic form of spinal muscular atrophy (SMA) of hereditary type.
 The cases described by these authors all involved infants.
 Further clinical analyses, however, indicated the inadequacy of this narrow grouping.
 Brandt
 in his study of 112 Danish patients, found that in about one-third the weakness was
present at birth, and in 97 the onset was in the first year of life; in 9 patients, the
disease was not recognized until after the first year of life.
 (1956)
 Walton, and later Wohlfart and colleagues and Kugelberg and Welander
 Identified milder forms of spinal muscular atrophy in which the onset was between 2
and 17 years and walking was still possible in adult life
 Byers and Banker
 In a study of 52 patients, they subdivided them into three groups on the basis of
age of onset; in one group the disease was recognized at birth or in the first
month or two of life; in a second, between 6
and12months;andinathird,afterthefirstyear.Intheirlastgroup, it was not unusual for
the patient to survive into adolescence and adult life. In a few of the late-onset
types, signs of corticospinal tract involvement are conjoined.
 Bonduelle
 Also included some patients with areflexia, pes cavus, Babinski signs,choreiform
movements, and mental retardation in this group. More recently, the designations
SMA I, II, and III have been introduced, based largely on the age of onset
DEFINITION
DEFINITION
 SMA is a disorder that is manifested by interneuron abnormality and a loss of anterior horn cells. (Tecklin, Pediatric Physical
Therapy 5th Ed.)
 A group of inherited disorders characterized by weakness and muscle wasting, secondary to degeneration of both ant. horn cell of
the spinal cord and brainstem motor nuclei without pyramidal tract involvement. (Cuccurullo)
 Infantile SMA, a heredofamilial disease characterized by the gradual development of widespread weakness and atrophy of the
musculature of the trunk and limbs as a result of degenerative changes in the ant. horn cells of the spinal cord. (Brashear)
 LMN lesion
 Flaccid
 Hypotonic
 Hyporeflexic
 Denervated Atrophy
 (-) Babinski

 UMN Lesion
 Spastic
 Hypertonic
 Hyperreflexic
 Disuse Atrophy
 (+) Babinski
OTHER NAMES
OTHER NAMES
 Floppy Baby Syndrome
ETIOLOGY
ETIOLOGY
 Idiopathic
 Genetics
 Autosomal Recessive Disorder
 Chromosome 5q13, where the survival motor neuron (SMN) gene is located and
the SMN protein is coded for.
 2 Hologous Genes
 SMN1 Gene
 1 copy
 Produces most of the proteins that the body uses
 When affected, it produces no protein, thus the production of proteins will be
relied on SMN2
 SMN2 Gene
 Multiple copies
 85-90% of proteins produced is not functional
 Only isoform d protein is full size and fully functional
 Total amount of SMN in SMA = Total copies of SMN2
 Severity of SMA is dependent on the number of SMN2 present.
EPIDEMIOLOGY
EPIDEMIOLOGY
 M>W
 Most chronic variety of PMA is familial
 Incidence: 1/15,000-20,000 live births
PATHOPHYSIOLOGY
 DEGENERATION of ANTERIOR HORN CELLS in the spinal cord and the
NEUROCYTES in the motor nuclei of some cranial nerves.
CLASSIFICATION
OF THE
CLINICAL CONDITION
1. SMA I (infantile, Werdnig-Hoffmann)
2. SMA II (intermediate type)
3. SMA III (Wohlfart Kugelberg Welander)
4. Kennedy syndrome (bulbospinal atrophy)
5. Fazio-Londe disease (Progressive Bulbar Palsy of Childhood)
 THREE SUBTYBES OF
AUTOSOMAL RECESSIVE SMA

1. SMA TYPE 1 (Wednig-Hoffman Disease) –Severe SMA

2. SMA TYPE 2 – Intermediate SMA
3. SMA TYPE 3 (Kugelberg-Welander syndrome) – Mild SMA

*all linked to chromosome 5q13

SMA TYPE I
(WERDNIG-HOFFMAN DISEASE) —SEVERE SMA
 Definition
 An autosomal recessive disorder of early infancy with severe axial and limb weakness due to degeneration of the
anterior horn cell of the spinal cord
 Age of Onset
 In utero or within the first few months of life
 Presenting Symptoms:
 Hypotonia and weakness
 Sucking and swallowing difficulty
 Respiratory problems
 Cardinal Clinical Signs:
 Severe limb and axial weakness; frog posture
 Marked hypotonia
 Poor head control
 Diaphragmatic breathing, costal recession
 Bell-shaped chest
 Internal rotation of arms; jug-handle posture
 Normal facial movements
 Absent tendon reflexes
 Weak cry
 Course and Prognosis
 Despite severity, weakness usually non-progressive
 Prone to respiratory infections
 Prognosis poor; majority die of pneumonia in first year, most within 3 years
 Investigations:
 CK: normal
 Motor nerve conduction velocity normal or reduced; poor motor action potential
 Ultrasonography: normal or increased echo plus atrophy of muscle
 EMG: features of denervation
 Muscle Biopsy:
 Large group atrophy plus isolated or clusters of large fibers (uniformly type I); early cases may show minimal
changes—prepathological
 Genetics:
 Autosomal recessive; gene 5q11-q13
 Management:
 Pharyngeal suction if bulbar weakness present
 Spinal brace in less severe cases to maintain sitting posture Supportive treatment of pneumonia (Dubowitz, 1978)
 The majority present within the first two months of life with generalized hypotonia and
symmetrical weakness
 Symptoms include a weak suck, dysphagia, labored breathing during feeding, frequent
aspiration, and a weak cry
 Examination reveals generalized hypotonia and symmetric weakness of the lower
extremities more than upper extremities. Proximal muscles are more affected than distal
muscles. “Frog leg” position occurs when supine with lower extremities abducted and
externally rotated.
 Diaphragmatic breathing occurs secondary to intercostal and abdominal muscle
weakness and relatively preserved diaphragmatic function. Abdominal protrusion,
paradoxical thoracic depression and intercostal retraction is seen. Facial weakness
occurs in 50% with tongue fasciculation in 56–61%. Preservation of deep tendon reflexes
does not exclude the diagnosis of SMA. Extraocular muscles and myocardium are
spared.
SMA TYPE II
—INTERMEDIATE SMA
 Definition
 An autosomal recessive disorder characterized by weakness predominantly of the legs, with ability to
sit unsupported but not to stand, due to degeneration of the anterior horn cells of the spinal cord
 Age of Onset:
 Usually between 6 and 12 months
 Presenting Symptoms:
 Weakness of legs
 Inability to stand or walk
 Cardinal Clinical Signs:
 Symmetrical weakness of legs, predominantly proximal
 Able to sit unsupported but unable to stand or take full weight on legs
 Fasciculation of tongue (about 70%)
 Tremor of hands
 Tendon jerks absent or diminished
 Facial muscles spared
 Associated Features:
 Scoliosis
 Normal or advanced intellect
 Variable intercostal weakness and respiratory problems
 Hypotonia and excessive joint laxity, especially hands and feet
 Course and Prognosis:
 Muscle weakness usually static and non-progressive; may show functional improvement— some may have increasing weakness
or disability over long period or during growth spurt or if putting on weight
 Long-term prognosis dependent on respiratory function
 Investigations:
 CK: normal or moderately elevated
 Ultrasonography: characteristic picture of increased echo in muscle atrophy and increased subcutaneous space
 ECG: normal complexes – characteristic baseline tremor, especially in limb leads
 EMG: evidence of denervation and re-innervation
 Muscle Biopsy:
 Characteristic pattern of large group atrophy plus variable clusters of enlarged fibers, uniformly or predominantly type
 Genetics:
 Autosomal recessive, gene 5q11-q13, alleles of one gene to account for varying severities of SMA, or dual genes or separate
genes
 A progressive kyphoscoliosis and restrictive lung disease are seen in the late first
decade of life
 The disease is slowly progressive with decline of less than one-half manual muscle
wasting unit per decade.
SMA TYPE III
(KUGELBERG-WELANDER SYNDROME) – MILD SMA
 Definition:
 An autosomal recessive disorder characterized by proximal weakness, predominantly of the
legs, due to degeneration of the anterior horn cells of the spinal cord
 Age of Onset:
 From the second year of life through childhood and adolescence into adulthood
 Presenting Symptoms:
 Difficulty with activities such as running, climbing steps, or jumping
 Limitation in walking ability—quality or quantity
 Cardinal Clinical Signs:
 Abnormal gait; waddling, flat-footed, wide base
 Difficulty rising from floor (Gowers’ sign)
 Proximal weakness; legs > arms
 Hand tremor (variable)
 Tongue fasciculation (variable)
 Associated features:
 Hypermobility of joints, especially hands and feet
 Course and Prognosis:
 Weakness usually relatively static; in some may be progressive
 Good long-term survival, depending on respiratory function
 Investigations:
 CK: normal or moderately elevated
 Ultrasonography: characteristic picture of increased muscle echo plus loss of muscle bulk
 EMG: evidence of denervation and re-innervation Nerve conduction velocity normal
 Muscle Biopsy:
 Characteristic pattern of large group atrophy plus variable groups of normal or enlarged fibers,
often uniformly type I; or retention of normal bundle architecture with fiber type grouping, and
focal small group atrophy
 Genetics:
 Autosomal recessive, gene 5q11-q13 Less common dominant and X-linked form
 Weakness usually occurs between 18 months and the late teenage years. Proximal
weakness occurs with pelvic girdle more affected than shoulder. Hip extensor
weakness occurs with increased lumbar lordosis and anterior pelvic tilt. A waddling
gait with pelvic drop and lateral trunk lean over stance phase side secondary to hip
abductor weakness occurs.
 Fasciculations in the limb muscles and thoracic wall muscles are common.
 Scoliosis is frequent.
 Ventilatory failure secondary to restrictive lung disease is rare
 CLASSIFICATION OF SMA (TECKLIN)
Class Synonyms Clinical Features Genetics
SMA Type I Werdnig-Hoffman Dse • 1/3 show prenatal onset
• 95% show clinical signs by 3 Autosomal Recessive
months
SMA Type II Arrested Werdnig Hoffman Dse • Clinical signs under 3yr of age, Autosomal Recessive
variable severity
Chronic generalized SMA • Median age of death exceeds
10yr
SMA Type III Kugelberg-Walender Syndrome • Clinical signs 3-15yr
Occasional autosomal dominant
• Milder course
Distal SMA Progressive SMA • Onset at birth or infancy
• Frequently confused with Autosomal Recessive,
Charcot-Marie-Tooth occasional Autosomal Dominant
• Slow progression; normal lifespan

Scapuloperoneal Atrophy • Onset in late childhood, early

teens
• Progress slow from Autosomal Recessive
scapuloperoneal to generalized
weakness in adult life
SMA c Cerebral Dysfunction Neuraxonal Dystrophy Variants • Onset in childhood, slowly
Probably rare,
progressive, associated c mental
Recessive
retardation
SIGNS &
SYMPTOMS
(CLINICAL
MANIFESTATION)
DIAGNOSTIC
CRITERIA
 Blood Test for DNA Test
 EMG
ROLE OF OTHER
MEMBERS OF
REHAB TEAM
POTENTIAL
COMPLICATION
S
PROGNOSIS
MEDICAL &
SURGICAL
MANAGEMENT
ORTHOSES
 Feeding
 Respiratory Care
 Mobility
PT
MANAGEMENT
SMA TYPE I
 Management:
 Pharyngeal suction if bulbar weakness present
 Spinal brace in less severe cases to maintain sitting posture
 Supportive treatment of pneumonia
 (Dubowitz, 1978)
SMA TYPE II
 Management:
 Prevention of scoliosis by early bracing
 Treatment of scoliosis by spinal braces or surgery
 Early achievement of standing posture in standing frame or calipers
 Promotion of ambulation by appropriate orthoses
 (Dubowitz, 1978)
SMA TYPE III
 Management:
 Encourage activity and ambulation
 Rehabilitation in braces if ambulation lost
 Vigorous treatment of respiratory infections
 (Dubowitz, 1978)
LATEST PT
MANAGEMENT