MUSCULAR

DYSTROPHIES
-ANUSHA V SHENAI
MPT
MUSCULAR DYSTROPHY
 Muscular dystrophy describes a group of muscle diseases that are

genetically determined and have a steadily progressive degenerative

course and characteristic degenerative features on microscopic
examination of the muscle.
CLASSIFICATION
 The etiology of MD is an abnormality in the genetic code for specific muscle

proteins. They all are classified according to the clinical phenotype, the
pathology, and the mode of inheritance.

Heritable MDs include the following:

 Sex-linked MDs : Duchenne , Becker , Emery-Dreifuss

 Autosomal dominant MDs : Facioscapulohumeral, Distal, Ocular, Oculopharyngeal

 Autosomal recessive MD : Limb-girdle form, Facioscapulohumeral muscular

dystrophy
  DMD and BMD are also known as
dystrophinopathies.

 LGMDs are also known as

sarcoglycanopathies.

DYSTROPHIN-
GLYCOPROTEIN COMPLEX
GENERAL CLINICAL FEATURES

 There is often positive family history .

 Distribution and sequence of muscle damage will vary depending on the
type of dystrophy
 In muscular dystrophy the muscles become weak before significant
wasting is apparent. This often the reverse of neural disease ,in which
atrophy often proceeds faster than weakness develops
 Reflexes are often depressed or absent very early in the course of
muscular dystrophy and long before the muscle is significantly wasted .
DUCHENE MUSCULAR
DYSTROPHY
 DMD, also known as pseudohypertrophic muscular dystrophy or
progressive muscular dystrophy.
 It is a dystrophinopathy in which the child becomes weaker and usually
dies of respiratory insufficiency and/or heart failure due to myocardial
involvement in the second or third decade of life.
 X-LINKED INHERITANCE PATTERN TO DMD
 Male off springs inherit from their mother.
 Advances in molecular biology has shown the defect to be a mutation at
Xp21 in the gene coding for the protein dystrophin.
EPIDEMIOLOGY
 DMD prevalence and birth prevalence estimates are variable, ranging 0.9
to 16.8 per 100,000 males from 1.5 to 28.2 per 100,000 live male births,
respectively.
 Age of onset is usually between 3 and 5 years of age.
WHY DMD IS MOST COMMONLY
SEEN IN MALES?
PATHOPHYSIOLOGY

Lack of Dystrophin

Sarcolemmal
instability
Increases
susceptibility to
membrane
microtears
 Increased calcium channel leaks

Influx of ca+ ions and efflux of cellular

proteins like creatine kinase

Cell Death
 CLINICAL PRESENTATION
 Insidious onset
 Age: Symptoms between 3 to 5 years of age
 Earliest symptom: 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.
 Pseudohypertrophy
 The weakness is steadily progressive with
proximal muscles tending to be weaker
earlier in the course of the illness and to
progress faster.
 Exaggerated Lumbar Lordosis.
 Waddling gait ( because of wide BOS).
 IT Band contractures.
 Child then walks on tiptoes because it is
easier to stay vertical with an equinus foot
position than on a flat foot, although no real
tendo Achilles contracture exists at this early
point.
 Gower’s Sign
https://youtu.be/nOmVymSUFTw
 As disease progresses, contractures set in.
Plantarflexion at ankle, inversion of foot
being earliest contractures to develop &
flexion at both the hips and knees typically
becoming more noticeable with the onset of
wheelchair dependence.
 Functional activities may be performed more slowly by children with DMD
than by typically developing children, but most of those affected are able to
walk, climb stairs and stand up from the floor without too much difficulty until
6 or 7 years of age.
 Scoliosis develops as the age of the untreated
child with DMD increases.
 Tends to progress- back muscles become
weaker.
 Positional scoliosis-----fixed.

 Respiratory involvement:
 Respiratory musculature atrophies, coughing
becomes ineffective and pulmonary infections
become more frequent
 Pulmonary function starts to decline , with
forced vital capacity declining a mean of 5% per
year.
 The final cause of death in patients with DMD is
often related to progressive pulmonary decline.
 The first signs and symptoms of respiratory
insufficiency are seen with the onset of
nocturnal hypoventilation typically in the
second decade of life.
 Symptoms: excessive fatigue, daytime
sleepiness, morning headaches (secondary to
increased carbon dioxide levels), sleep
disturbances (nightmares), or feeling the need
to strain to “gulp for air” upon arousal during
the night.
 Gastrointestinal involvement:
 Constipation and the risk of acute gastric dilation or intestinal pseudo-obstruction,

sudden episodes of vomiting, abdominal pain, and distention.

 Cardiac issues:
 Dilated cardiomyopathy, arrhythmia, and congestive heart failure.
 Posterobasal portion of the left ventricle is affected greater than other parts of the
heart.
 Motor and sensory neurons are undamaged, and fortunately Bowel and
bladder control typically remains intact despite impaired motility.
 High rate of intellectual impairment and emotional disturbance has been
associated with DMD.
 IQ: Fall approximately one standard deviation below the mean affecting
verbal scores > performance scores
DIAGNOSIS
 LABORATORY FINDINGS:
 Abnormally high serum creatine kinase (CK) level, which is 50 to 200
times the normal level and usually ranges from 15,000 to 35,000 IU/L
(normal less than 160 IU/L).
 Aldolase levels are also elevated.

 Muscle Biopsy:
 Muscle biopsy demonstrates degeneration, regeneration, isolated
"opaque" hypertrophic fibers, and significant replacement of muscle by
fat and connective tissue.
 Electromyography:
 Nonspecific myopathic features with normal motor and sensory nerve
velocities and no denervation.
NORMAL ADULT MUSCLE

DYSTROPHIC CHANGES
 Dystrophin analysis — In normal
individuals, dystrophin may easily be
detected on immunoblots of 100 mcg of total
muscle protein, and evaluated either visually
or by using densitometry. The quantity and
quality of the dystrophin varies with the
different disorders:
 Nearly all patients with DMD display
complete or almost complete absence of
dystrophin.
 ECG findings :
 Resting sinus tachycardia,
 Deep infero-lateral Q waves, and a tall R in lead
V1 due to the underlying cardiomyopathy,
which is often associated with posterobasal
fibrosis of the left ventricle.
 Left atrial enlargement, as indicated by the
prominent negative P wave in lead V1, and
marked right axis deviation are also present.
TREATMENT
 The clinician can propose a positive approach on the basis of

the following:
(1) some of the complications which magnify the functional disability of
DMD are predictable and preventable

(2) an active program of physical therapy may prolong ambulation and

more closely approximate the normal independence of later childhood; and

(3) if a specific treatment ever becomes available, those in optimal physical

condition are most apt to benefit.
MEDICAL MANAGEMENT
 For boys five years of age and older with Duchenne muscular dystrophy (DMD)
who are no longer gaining motor skills, or whose motor skills are declining,
glucocorticoid treatment with prednisone or deflazacort is recommended.
 The preferred regimen is prednisone 0.75 mg/kg per day.
 Creatine monohydrate, a naturally occurring substance, often used by body
builders to increase muscle performance, is sometimes recommended for boys
with DMD.
 Boys with DMD showed increases in fat-free mass (FFM), strength, and
subjective reports of improvement after creatine supplementation.
 Gene therapy, cell therapy, mutation specific medication, modulation of utrophin
expression, modulation of blood flow to the muscle, and treatments to address
fibrosis.
 To date there is not an approved therapy to cure the disease.
 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.

 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.

 Other orthopaedic surgeries include Achilles tendon or gastroc-facial lengthening, Fasciotomies, tibialis posterior

transpositions, and percutaneous tenotomies in an attempt to increase joint ROM for prolongation of ambulation.

 There is an increased risk of low energy fractures in boys diagnosed with DMD and BMD.

 Some have recommended aggressive therapy with early remobilization in lower-limb fractures where ambulation

is fragile.

 Use of partial weight-bearing support treadmills and gait trainers as well as aquatic therapy can be utilized in the

rehabilitation process to allow earlier mobilization in a safe environment once cleared by the orthopedic physician

for weight bearing.

PULMONARY TREATMENT
 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.
 Ventilatory assistance might be required both day and night for children
with advanced respiratory failure.
 The pulmonologist can also recommend various airway clearance
techniques and medications to improve pulmonary health.
CARDIAC AND GI/NUTRITIONAL
INTERVENTION:
 Cardiac medications for arrhythmias and ventricular function may be

necessary.

 Regular cardiac ECG and ECHO monitoring needs to be done by the

cardiologist.

 A GI specialist can help with constipation issues as well as monitor for

intestinal pseudo-obstruction.

A nutritionist can 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
PHYSIOTHERAPY
MANAGEMENT
PHYSIOTHERAPY
EVALUATION:
 When discussing examination and treatment of the child with DMD, it is

helpful to categorize the disease into three general life stages:

1. The early or ambulatory stage,

2. The transitional phase during loss of ambulation, and

3. The later/wheelchair stage when the child or young adult is wheelchair

dependent for most of his functional activities.

HISTORY
 FAMILY HISTORY:
 Understanding the child’s family history is important.
 If there is a family history of MD, suspicion is high and diagnosis can easily
be made by DNA analysis.
 When family history is negative, the diagnosis is usually missed at an early
stage.
 If the child’s mother or sisters are carriers, they will need to understand
both their risks of cardiomyopathy as well as implications for future family
planning
 DEVELOPMENTAL HISTORY:
 The physical therapist should gather information regarding the child’s birth
and development.
 Boys with DMD are often late walkers, may never gain the ability to jump,
and lag behind their peers in gross motor skills.
 It is common for boys to have a lower IQ, and they may have learning
disabilities that need to be addressed in school.
REVIEW OF SYSTEMS
1. PULMONARY SYSTEM:
Does the child have a strong cough, is it productive cough?
Can the child clear his own secretions?
Does the family currently perform percussion and postural drainage
with intercurrent illness or use any devices to aid in airway clearance to
maintain pulmonary health?
Does the child exhibit any symptoms of respiratory insufficiency or
nighttime hypoventilation?
2. 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 MEASURES
 FUNCTIONAL ABILITY:
 Systematic and serial recording of standard tasks shows that the child with
DMD is in one of two general phases:
 stable performance
 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.

2. MUSCLE TESTING:
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.
By the time the child reaches 7 years of age, or with serial strength scores
recorded for 1 year, it is possible to estimate the rate of progression as either
rapid (10% deterioration per year), average (5% to 10% deterioration per year),
or slow (5% deterioration per year).
There is a variation in the rapidity of progression, and MMT Dynamometry
along with performance of functional tasks, helps determine when bracing or
wheelchairs will be needed.
 Handheld myometry has been used to better quantify muscle strength in boys
with DMD.
 HHM and grip and pinch dynamometers can be useful in obtaining more
objective and specific muscle strength data.

3. ROM:
Standard assessment of joint motion with goniometry should be done
periodically.
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.
 The primary problems encountered by children with DMD include the
following:
 Weakness
 Decreased active and passive ROM
 Ambulation dysfunction
 Decreased functional ability
 Decreased pulmonary function
 Emotional trauma—individual and family
 Progressive scoliosis
 Pain

 GOALS OF INTERVENTION:
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.
 ROM exercises and stretching, orthotics and splinting, assessment
and management of adaptive equipment, and appropriate positioning.
 Prolonging functional capacity of ensuring safety while functioning
may require the prescription of specific orthotics or adaptive
equipment can all be helpful in addressing the goals of preventing
deformity and prolonging function.
 Family education in regard to the disease process and its implications
 The child and family may be aided by appropriate timing of referral to
other associated medical personnel, including
 orthotist,
 occupational therapist,
 nutritionist,
 adaptive equipment clinic,
 social worker, or
 medical specialists, including orthopedic surgeon, pulmonologist, GI specialist, or
cardiologist.
 Appropriate stretching, fit and positioning in wheelchairs, cushions,
alternating pressure pads, or specialized mattresses and hospital beds can
go a long way in assisting the control of discomfort in these children.

 HOME PROGRAM:

 An effective program of care at home is essential.

 Giving simple instructions, requesting a limited number of exercises and repetitions

each day, and offering extensive feedback and positive reinforcement to people in the
support system.
 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.
 Periodic reevaluation, retraining, and motivation sessions for parents are
recommended.
 PREVENTION OF DEFORMITY
 The tendency for development of plantarflexion contractures is usually the earliest
problem.
 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.
 The regimen often prescribed is between 10 and 15 reps, holding at least 15 seconds,
performed at least once, and preferably twice, daily.
 Hamstring stretching is added to the home program.
 The ITB, hip flexors, and ankle inverters are other structures that must be monitored
carefully for loss of ROM, which usually occurs in all these structures as a result of either
weakness or static position.
 At least 2 to 3 hours of standing or walking is recommended daily in addition to
stretching to help prevent contracture formation.
 Serial casting to manage plantar flexion contractures has also been used successfully
without loss of function in ambulatory boys with DMD.
MINIMISING SPINAL
DEFORMITY
 Increase in sitting time-----increases chances of kyphoscoliosis.
 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.
Activity Level/Active
Exercise:
 Normal,age-appropriate activities for a young boy with DMD are
encouraged.
 Care should be taken to avoid overusing muscles and causing fatigue.
 Signs of overuse weakness include feeling weaker 30 minutes
postexercise or excessive soreness 24 to 48 hours after exercise.
 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.
 Resistive muscle strengthening is not recommended in boys with DMD
because of the risk of contraction-induced muscle injury.
STRENGTHENING
 Avoidance of maximal resistive strength training and eccentric exercise is
recommended in boys with DMD.
 Submaximal endurance training such as swimming or cycling may be
beneficial, especially in the younger child with DMD.
PROLONGING AMBULATION:
• As patients with DMD become weaker, their gait pattern is altered in an
attempt to improve stability during walking.
• Stride length decreases, and the width of the base of support increases to
provide a more stable base.
• 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.
 Active joint stretching will help maintain, and may even increase, ROM at
those muscles that have been released.
 The goal of the postoperative physical therapy program is independent
ambulation with a minimum of 3 to 5 hours per day of standing and/or
walking.
 Even when no steps are possible, the child is asked to stand at least 1 hour a
day (in a stander if necessary).
 Optimal stance is with the back in extension so that the center of gravity falls
behind the hip joint.
WEIGHT CONTROL AND
FACILITATING SLEEP
 Weight management for the ambulatory child is now equally as important
as it is for the child who is limited to a wheelchair.
 Excessive weight gain can reduce the child’s ability to get transferred and
may restrict both mobility and social activity.
 The physical therapist can play a major role in promoting this weight
control philosophy with the child and family.
 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.
ADLs & RESPIRATORY
CONSIDERATIONS:
 The physical therapist should routinely assess the child’s ability to perform
activities of daily living (ADLs).
 The patient’s ability to feed himself, turn pages in a book, and do necessary
personal hygiene tasks must all be assessed periodically.
 The physical therapist may choose to request an occupational therapy
consultation.
 All physical therapists working with boys with DMD, however, should be aware
of the importance of maintaining good pulmonary health, whether directly or
indirectly involved with their respiratory care.
 Family members should be trained in the techniques of bronchial drainage,
chest percussion, and cough assist.
 Use of inspiratory and expiratory aids has been shown to prolong survival as
well as decrease hospitalizations
 Patients with DMD use noninvasive intermittent positive pressure ventilation
(IPPV), manually assisted cough, and mechanically assisted cough (using
mechanical insufflation–exsufflation cough assist).
 They used the above techniques when needed as indicated by an oximeter, to
maintain oxyhemoglobin saturation (SaO2) greater than or equal to 95%.

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.
Although not a psychotherapist, the physical therapist must be aware of the
emotional factors involved with the illness and must provide strong emotional
support to optimize the patient and families ability to function as a team with
the goal of optimizing the boys function and quality of life.
PAIN MANAGEMENT
 Most of the pain that occurs in these disorders is of three types.
1. Some boys complain of muscle pain which is often reflective of overuse and
delayed muscle soreness.
2. Some older children will develop an impingement syndrome at the shoulder
from being lifted for transfers.
3. When the ability to perform independent pressure relief diminishes some
children have pain related to pressure either in the wheelchair or in bed at
night.
 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.
 Proper wheelchair and bed positioning can aid in adequately distributing
the pressure and diminishing the pain.
REFERENCES
 Tecklin JS. Pediatric physical therapy. 5th ed. Philadelphia, PA: Lippincott
Williams and Wilkins; 2015.
 Gans BM, Walsh NE, editors. Physical medicine and rehabilitation:
Principles and practice. 4th ed. Philadelphia, PA: Lippincott Williams and
Wilkins; 2004.
 Cifu DX. Braddom’s physical medicine and rehabilitation. Philadelphia, PA:
Elsevier - Health Sciences Division; 2021.
THANK YOU