Muscular Dystrophy
By. Mukesh kumar
BPT 4th year
MUSCULAR DYSTROPHY
Muscular dystrophy (MD) is a group of genetic
diseases
that cause progressive weakness and wasting of the
muscles.
It’s characterized by the degeneration and loss of
muscle fibers
due to mutations in genes responsible for muscle
structure and function.
CAUSES
Muscular dystrophy (MD) is primarily caused by genetic
mutations that
affect the structure or function of muscle protein.
In Duchenne and Becker muscular dystrophies,
the most common forms, mutations affect the dystrophin gene,
leading to a deficiency or absence of the dystrophin protein.
CLINICAL FEATURES
Progressive muscle weakness
Wasting (atrophy) of affected muscle
Gait abnormalities (waddling gait, toe walking)
Gower’s sign (using hands to “climb up” the legs when standing from the floor)
Contractures and scoliosis in later stages
Cardiac involvement (cardiomyopathy, arrhythmias)
Respiratory muscle weakness → breathing problems
Possible cognitive impairment (esp. In DMD)
GOWER’S SIGN
TYPES OF MUSCULAR DYSTROPHY
Duchenne muscular dystrophy (DMD)
Becker muscular dystrophy (BMD)
Myotonic dystrophy (DM)
Limb-girdle muscular dystrophy (LGMD)
Congenital muscular dystrophy (CMD)
Oculopharyngeal muscular dystrophy (OPMD)
1. Duchenne Muscular Dystrophy (DMD)
Cause: Mutation in the dystrophin gene (usually X-linked).
Onset: Early childhood (usually 2–5 years).
Features: Rapid progression, primarily affects boys,
starts in hips, thighs, and shoulders.
Heart and respiratory muscles can be involved.
Prognosis: Often leads to loss of walking ability
by early teens.
2. Becker Muscular Dystrophy (BMD)
Cause: Mutation in the dystrophin gene (X-linked),
but partially functional dystrophin is produced.
Onset: Usually teens to early adulthood.
Features: Slower progression than DMD,
similar muscle groups affected.
3. Myotonic Dystrophy (DM)
Cause: Mutations in DMPK
(dystrophia myotonica protein kinase type 1) or
CNBP (cellular nucleic acid binding protein type 2) genes.
Onset: Can appear at any age.
Features: Prolonged muscle contractions (myotonia),
facial muscle weakness, hand/foot weakness, cataracts,
cardiac and endocrine issues.
4. Limb-Girdle Muscular Dystrophy (LGMD)
Cause: Mutations in various genes affecting muscle
proteins (inherited in autosomal dominant or
recessive patterns).
Onset: Childhood to adulthood.
Features: Weakness in hips, thighs,
shoulders, and upper arms.
5.Congenital Muscular Dystrophy (CMD)
Cause:Various gene mutations affecting muscle and connective tissue
proteins.
Onset: Birth or infancy.
Features: Poor muscle tone, developmental delays, possible joint
stiffness, and breathing issues.
DIAGNOSIS
Physical exam and family history
Blood tests: elevated creatine phosphokinase (cpk3)
Genetic testing
Electromyography (EMG)
Muscle biopsy
Cardiac tests (ECG, echocardiogram)
TREATMENT
No cure, but treatment can slow progression
Corticosteroids (e.g., prednisone) may slow the muscles destruction
Physical therapy
Assistive devices
Respiratory care
Cardiac medications
Surgery (scoliosis, contractures)
PT MANAGEMENT
