Duchenne muscular dystrophy

 DMD, also known as pseudohypertrophic muscular dystrophy or

progressive muscular dystrophy, is one of the most prevalent and
severely disabling of the childhood neuromuscul disorders,
occurring in approximately 1 in 3500 live male births.
 It is dystrophinopathy in which the child becomes weaker and
usually dies of respiratory insufficiency or heart failure due to
myocardial involvement in the second or third decade of life.
 There is an X-linked inheritance pattern to DMD whereby male
offspring inherit the disease from their mothers, who are most often
asymptomatic. 
 Advances in molecular biology has shown the defect to be a
mutation at Xp21 in the gene coding for the protein dystrophin.

Pathophysiology
 The absence of dystrophin leads to reduction in all of the
dystrophin-associated proteins in the muscle cell membrane and
causes a disruption in the linkage between the subsarcolemmal
cytoskeleton and the extracellular matrix. 
 The exact cause of muscle cell necrosis is unknown. 
 lack of dystrophin causes sarcolemmal instability and increase
susceptibility to membrane microtears, which may be exacerbated
by muscle contractions. 
 This causes increased calcium channel leaks, and an increase in
reactive oxygen species. 
 The increase in reactive oxygen species is activated through a
pathway driven by mechanotransduction by the microtubule
cytoskeleton of the cell. 
 The activation of this signaling pathway results from membrane
stress and ultimately impacts calcium signaling and results in an
increase in which raises intracellular calcium levels, leading to
muscle cell necrosis.
Clinical Presentation and Progression
 Onset is insidious and symptoms occur between 2 and 5 years of
age.
 Earliest symptoms may include a reluctance to walk or run at
appropriate ages, falling, and difficulty getting up off the floor, toe-
walking, clumsiness, and an increase in the size of the
gastrocnemius muscles. This “pseudohypertrophy,” is marked by a
firm consistency of the muscle when palpated.
 Weakness of the hip and knee extensors often results in an
exaggerated lumbar lordosis that is characteristic of the early stages
of disease. 
 Lordosis occurs in response to the attempt to align the center of
gravity anterior to the fulcrum of the knee joint and posterior to the
fulcrum of the hip joint. 
 The child attempts to broaden the base of support during walking
and thus develops a gait that resembles waddling. 
 The child may develop iliotibial band (ITB) contractures, which
are made worse by this wide-based stance. 
 As the weakness progresses, the 
 child rises from the floor by “climbing up the legs.” This
maneuver, known as Gowers sign, is indicative of proximal muscle
weakness.
 Contracture results in plantarflexion at ankle, with Inversion of
foot
 early loss of ROM in hamstring, hip flexors, ITBs, and heel cords,
limit stance.

Brooke and colleague disease progression

 Scoliosis develops as the age of the untreated child with DMD
increases; significant curves are generally not 
 noticed until wheelchair independence after 11 years of age.
 Respiratory Involvement-: DMD affects other organs also. As the
respiratory musculature atrophies, coughing becomes ineffective
and pulmonary infections
 become more frequent, with pulmonary function declining, with
forced vital capacity declining a mean of 5% per year.
 GIT:- The muscles of the gastrointestinal (GI) tract are also
affected, causing constipation and the risk of acute gastric dilation
or intestinal pseudo-obstruction, which can cause sudden episodes
of vomitting, abdominal pain, and distention. If not treated
properly, this requires medical attention and can lead to death.
 Cardiac Issues:- Heart muscle is also affected by a deficiency of
dystrophin, resulting in dilated cardiomyopathy, arrhythmia, and
congestive heart failure.
 Cognition:-  When cognitive delay is noted this is not progressive,
but this intellectual deficit may hinder the child’s development and
may make a physical evaluation of the child difficult.

Diagnosis
 Laboratory findings include 
 an abnormally high serum creatine kinase (CK) level
 EMG 
 Muscle biopsy
 Immunological staining
 Genetic testing

Treatment
Although definitive treatment is lacking, proper
management27 can prolong the maximum functional ability
of the child.
1. Medical Treatment
There is no pharmaceutical cure for the genetic abnormality in DMD,
but corticosteroids, including prednisone
and deflazacort increase strength and improve functional ambulation
from 6 months to up to 2 years in patients with DMD.

2. Orthopedic Treatment
 Spinal fixation is generally recommended for boys with DMD if
their scoliosis begins to progress rapidly and their spinal curve
becomes greater than 30 degrees, usually once boys are
wheelchair-bound.
 The goals of spinal surgery should  include providing a stable
spine, maximally correcting scoliosis, correcting pelvic obliquity,
and providing sagittal-plane alignment for improved comfort and
function.38,39 Spinal stabilization should be segmental from T2 or
T3 at the upper end and attaching into the body of the ilium or
sacrum at the lower end, and should attempt to correct pelvic
obliquity and provide a lumbar lordosis.
 Other orthopedic surgeries include Achilles tendon or gastroc-
facial lengthening, Yount fasciotomies, tibialis posterior
transpositions, and percutaneous tenotomies in an 
 attempt to increase joint ROM for prolongation of ambulation. 
 Besides surgery, orthopedic intervention is required in the event of
a fracture .

3.  Pulmonary Treatment

 Pulmonologist beginning in the second decade of life for regular
monitoring of pulmonary status initially focusing on evaluation for
nocturnal hypoventilation.
 If the history and pulmonary function test results suggest that the
lungs are not 
 being adequately ventilated, the pulmonologist will need to discuss
options for assisted ventilation.
 Nasal bilevel positive pressure (BPAP) ventilation may be used at
night to assist breathing and to provide a rest for overworked
respiratory muscles.
 The pulmonologist can also recommend various airway clearance
techniques and medications to improve pulmonary health including
procussion and postural drainage during illness and the use of a 
 coughalator for airway clearance and to maintain ribcage and lung
flexibility.

4. Cardiac Treatment
 Regular cardiac echocardiogram (ECHO) and electrocardiogram
monitoring by a cardiologist is necessary for boys with DMD,
BMD, and female carriers. 
 Cardiac medications for arrhythmias and ventricular function may
be necessary. 
 Patients with BMD also may eventually need heart transplantation
for dilated cardiomyopathy.

5. GIT/Nutrition
 A GI specialist help with constipation issues as well as monitor for
intestinal pseudo-obstruction. 
 A nutritionist help prevent weight gain and assist with diet
recommendations in the early years and with weight loss and
nutritional support in later life when self feeding becomes difficult
and aspiration becomes more of a risk.

6. Physical Examination
 When discussing examination and treatment of the child with
DMD, it is helpful to categorize the disease into three general life
stages: the early or ambulatory stage, the transitional phase 
 during loss of ambulation, and the later/wheelchair stage when the
child or young adult is wheelchair dependent for most of his
functional activities.
 Each child with DMD should undergo a physical therapy
examination. Such an examination involves the gathering of 
 information that contributes to the development of a plan of care.

History include: 
 family history; 
 birth and developmental history; 
 a review of systems, including cardiac, pulmonary, GI, integumentary, and
musculoskeletal systems; 
 functional mobility; 
 social history,
 environmental barriers; and 
 currennt durable medical equipment

Family History
 The child and family may already know someone with the disease and may
have a different perspective than someone diagnosed with no family
members with the disease who is unfamiliar with the characteristic
phenotypic course. 
Developmental History
 Boys with DMD are late walkers, 
 may never gain the ability to jump, 
 lag
 behind their peers in gross motor skills, 
 frequent falling or clumsiness as boys develop weakness,
 have a lower IQ, may have
 learning disabilities that need to be addressed in School.

7. Review of Systems
 A good pulmonary history is required to determine whether the child has any pulmonary
issues that require treatment.
 If the child demonstrates these symptoms, the child must be referred to a pulmonologist
for evaluation for nocturnal hypoventilation.
 Other systems, including cardiac, GI, integumentary, and musculoskeletal systems will
also need to be reviewed to 
 determine whether referral to a specialist is necessary.

Tests and Management

Functional ability -:
-The child with DMD is in one of two general phases: 
stable performance or declining performance. 
-During the stable phase, which may continue for several years, the child may
demonstrate normal performance of various tasks during the serial evaluations,
despite a continuing decline in strength.
-The use of timed testing during examinations in the clinical setting is useful for
monitoring patient function as well as for predicting loss of ambulation. 
-Activities that are frequently timed include: transferring from supine to
standing, running or walking a distance of 10 m, transferring from sitting to
standing, and climbing up four steps. 
-Timed function tests can be useful in predicting loss of ambulation.
-When the time to ambulate 10 meters is greater than 9 seconds, this is
predictive of loss of ambulation within 2 years. 
-A 10 meter timed test of greater than 12 seconds is predictive of loss of
ambulation within 1 year.  When a child  is no longer able to attain standing
from floor, it is predicted  that loss of ambulation is likely to occur within 2
years.

Muscle Testing
 MMT has been shown to be both reliable32 and sensitive to changes in
strength in patients with DMD.
 Because muscle weakness is characteristic of muscle disease, MMT must be
a routine part of the physical therapy evaluation of the child with a dystrophy
or a myopathy.
 The longitudinal results of MMT in children with DMD show linearity in the
decline of muscle strength. By the time the child reaches 7 years of age, or
with serial

Range of Motion
 Loss of full ankle dorsiflexion, ankle eversion, knee extension, and hip
extension, with resultant contractures, occurs commonly in patients with
DMD.
 Measurement of ankle dorsiflexion, knee extension, hip extension, and ITB
tightness are probably the most important aspects of goniometric testing.
 Measurement of the popliteal angle is useful in monitoring hamstring
flexibility.
 Special tests, including Thomas test and Ober test, can also be useful in
monitoring hip flexor and ITB tightness.

Physical Therapy Intervention

The primary problems encountered by children with DMD include the
following:
1. Weakness
2. Decreased active and passive ROM
3. Ambulation dysfunction
4. Decreased functional ability
5. Decreased pulmonary function
6. Emotional trauma—individual and family
7. Progressive scoliosis
8. Pain
On the basis of the specific areas of concern for each family, it is possible to
identify five major goals of management common to all children with DMD:
1. Prevent deformity.
2. Prolong functional capacity.
3. Improve pulmonary function.
4. Facilitate the development and assistance of family support and support of
others.
5. Control pain, if necessary.

Home Program
Outpatient physical therapy once or twice each week at times may be
indicated with the primary goal of instructing family members in an
appropriate home program, providing safe guidelines for exercise, and
monitoring of orthotic or splinting needs.

Preventing Deformity
 Daily stretching of the Achilles tendons should slow down the development of
this deformity. The use of night splints in combination with heel cord stretching
has been shown to play a significant role in preventing the equinovarus
deformity associated with DMD.
 If plantarflexion contractures and the resultant knee, ITB, and hip flexion
contractures are allowed to continue unchecked, the child will progress much
sooner than necessary to the late ambulation stage and will lose the ability to
ambulate at an earlier age than with intervention.
 If plantarflexion contractures and the resultant knee, ITB, and hip flexion
contractures are allowed to continue unchecked, the child will progress much
sooner than necessary to the late ambulation stage and will lose the ability to
ambulate at an earlier age than with intervention.

Minimizing Spinal Deformity

 A lateral support and viscous fluid filled or air cushions in wheelchairs have
been used in an attempt to provide appropriate pressure relief and spinal
positioning while the patient is seated in the wheelchair, but no studies are
available to prove their clinical efficacy. Typically, spinal orthoses are not used
in patients with DMD since they have not been shown to delay the development
of the spinal curve and might
 increase work of breathing.
 Spinal stabilization attempts to improve or stabilize a patient’s respiratory
function to alleviate the mechanical disadvantage the kyphoscoliosis placed on
the already weak respiratory muscles, as well
 as to prevent the potentially deleterious effect of this scoliosis on respiratory
function.

Activity Level/Active Exercise

In general, eccentric muscle activities such as walking or running downhill
and closed chain exercises such as squats should be avoided if possible as
they tend to cause more muscle soreness.

Strengthening
Endurance exercise such as swimming has been found to be beneficial in mdx
mice by increasing the resistance to fatigue in muscles by increasing the
proportion of type I (slow oxidative) fibers.

Prolonging Ambulation
Treatment programs combining passive stretching and lower extremity
bracing at night have demonstrated a reduction in the rate of progression of
lower extremity contractures and have prolonged ambulation.

Wheelchair Use
When ambulation becomes more difficult, falling becomes more frequent, and
the child with DMD is unable to get to the places he needs without undue
fatigue, it is time to consider the use of a wheelchair for a primary means of
mobility.

Weight Control
Weight management for the ambulatory child is now equally as important as it
is for the child who is limited to a wheelchair.
Despite good use of transfer techniques and proper body mechanics by others,
excessive weight gain can reduce the child’s ability to get transferred and may
restrict both mobility and social activity.

Fcilitating sleep
Air or memory foam mattresses or commercial flotation pads often improve
sleeping comfort for children with advanced deterioration who have difficulty
positioning themselves or changing position at night.

Activities of Daily Living

The patient’s ability to feed himself, turn pages in a book, and do necessary
personal hygiene tasks must all be assessed periodically.

Respiratory Considerations
As the diaphragm, trunk, and abdominal muscles weaken, tidal volume and the
ability of the patient to effectively clear secretions decreases. Spontaneous
periodic deep breaths, as occurs with sighs and yawns, which help to reinflate
atelectic zones and spread surfactant, become absent.
Use of inspiratory and expiratory aids has been shown significantly when
following an intensive protocol to prolong survival as well as decrease
hospitalizations.

Facilitating Family Support

The physical therapist plays an important role in providing support, motivation,
and training of the patient with DMD and his family members. Successful
family support depends on the early involvement of the physical therapist to
help the family understand the natural history and opportunities that exist to
impact progression of the disease with a home program that is monitored and
adapted appropriately.

Management of Pain
If pain becomes a problem, routine methods of treatment aimed at addressing
the cause of the pain may be helpful.
Sometimes making the patient aware of the cause of muscle aches will allow
them to self-limit.
Other times medical treatment with creatine can be helpful.
Instruction in lifting techniques and proper positioning of the hands so as not to
over stress the shoulder during lifting or support the arm in the wheelchair
properly can be helpful.
Finally proper wheelchair and bed positioning can aid in adequately distributing
the pressure and diminishing the pain.