IN THE NAME OF ALLAH THE

BENEFICENT AND THE MERCIFUL

 MYOPATHIES/
MUSCULAR
DYSTROPHIES
MAJ OMER JAMSHED KHAN
ASST PROF & CONSULTANT REHAB MEDICINE
Symptoms of muscle disease
 Muscle fatigue, exercise intolerance in general
 Proximal and symmetric weakness
 Waddling gait; difficulty of rising from sitting, climbing
stairs
 Gower’s sign
 Hyperextension of the knee
 Increased lordosis of the lumbar spine, scoliosis
 Contractures, tight Achilles tendons
 Myopathic face
 Muscle atrophy; pseudohypertrophy of calf
 Myotonia
 Tendon reflexes are normal or decreased
Diagnosis of muscle diseases

 Creatinine kinase levels increased in

many myopathies (sign of muscle fiber
necrosis)
 NCS / EMG: differentiation between
neurogenic and myogenic weakness
 Muscle biopsy: signs of muscle fiber
abnormality, inflammation,
immunostaining of muscle constituents
 Genetic testing
Types of muscle diseases

 Hereditary muscle diseases

 Muscle dystrophies
 Muscle channelopathies
 Mitochondrial myopathies
 Metabolic myopathies
 Acquired muscle diseases
 Inflammatory myopathies
 Endocrine and toxic myopathies
 Infectious muscle diseases
 MUSCULAR DYSTROPHY

Muscular dystrophy (MD) refers to a group inherited

diseases that cause muscle weakness and muscle
loss. Some forms of MD appear in infancy or
childhood, while others may not appear until middle
age or later. All forms of MD grow worse as the
person's muscles get weaker. Most people with MD
eventually lose the ability to walk.
Muscle dystrophies
 Hereditary myopathies, characterized by progressive weakness and
muscle atrophy

 Genetic defect of proteins constituting the sarcolemma-associated

cytoskeleton system
Classification of types of MD
Sex-linked MDs
Duchenne
Becker
Autosomal dominant MDs
Facioscapulohumeral
Distal
Ocular
Oculopharyngeal

Autosomal recessive MD – limb-girdle

form
Duchenne muscular dystrophy

Normal Duchenne dystrophy

Diagnosis:
•Lack of immunostaining of dystrophin in muscle biopsy specimen
•Demonstration of deletion in the dystrophin gene
Duchenne muscular dystrophy
 Onset at 3-5 years
 Initial symptoms: difficulty getting up from
deep position and climbing steps, waddling
gait
 Weakness most pronounced in limb-girdle
muscles, trunk erectors; craniobulbar
muscles are spared
 Skeletal deformities
 Cardiomyopathy
 Inability to walk by 9-11 years
 Death occurs usually in the 3rd decade,
from respiratory insufficiency
 Becker Muscular Dystrophy

 Same pathogenesis as DMD

 Except for inframe mutations for BMD, out of frame for DMD
 Slower course
 Present between 5-15 years old
 Wheelchair bound after 16 years old
 Live through their 30s-40s
 Less severe course, less likely to have
 Cognitive impairment
 Cardiac disease
 Contractures
 Scoliosis
 GI issues
 CK elevated (5x upper limit of normal)
 Muscle biopsy with decreased dystrophin
Myotonic dystrophy
 Prevalence: 1 in 8000
 Cause: CTG repeat expansion in a gene on
chr. 19
 Autosomal dominant inheritance, with
anticipation
 Multisystemic disease:
 Myotonia: hyperexcitability of muscle
membrane  inability of quick muscle
relaxation
 Progressive muscular weakness and wasting,
most prominent in cranial and distal muscles
 Cataracts, frontal balding, testicular atrophy
 Cardiac abnormalities, mental retardation
Limb-girdle dystrophies

 Causes:
 Sarcoglycanopathies
 Calpain deficiency
 Caveolin deficiency
 Dysferlin deficiency etc.
 Sarcoglycanopathies comprise about
10% of autosomal recessive limb-
girdle dystrophies
 α, β, γ, δ sarcoglycans
Facioscapulohumeral
dystrophy
 Prevalence: 1 in 20,000
 Autosomal dominant
 Age of onset: infancy to middle age
 Progressive muscular weakness and
atrophy involving the face, scapular,
proximal arm and peroneal muscles 
myopathic face, winging of the scapula,
inability to raise the arms, foot drop
 Life span is not significantly affected
Symptoms
 Muscle weakness,  Cognitive
slowly progressive dysfunction
(Difficulty running,  Skeletal
hopping, jumping; deformities, chest
Progressive and back (scoliosis)
difficulty walking)
 Muscle deformities
 Ability to walk may (contractions of
continue into heels, legs;
adulthood Pseudohypertrophy
 Frequent falls of calf muscles)
 Difficulty  Fatigue
breathing  Heart disease
Signs/Clinical Features
Gower's Sign
INVESTIGATIONS

CK LEVELS
ECG
ECG is expected to show a right ventricular strain, tall R
waves, deep Q waves, and inverted T waves.
Pulmonary function test (PFTs)
PFTs, including an analysis of arterial blood gases, and a
hematologic workup are necessary as part of the
preoperative workup
Diagnostic Procedures
Muscle biopsy
Histologic changes depend on the stage of disease and the muscle selected.
The optimal site for biopsy is the vastus lateralis muscle via a small lateral thigh
incision.
NCS/EMG
Short amplitudes with early recruitment
Complications
 Deformities
 Permanent, progressive disability manifested
as decreased mobility or decreased ability to
care for self
 Mental impairment
 Cardiomyopathy
 Pneumonia or other respiratory infections
 Respiratory failure
TREATMENT/MANAGEMENT
There is no cure for muscular dystrophy. Treatments
include

Physical and speech therapy

Orthopedic devices
Surgery
Medications
Some people with muscular dystrophy have mild cases
that worsen slowly
Others cases are disabling and severe.
Muscular Scoliosis
weakness.  Active exercises
 Active or active  Orthosis (braces)
assisted
exercises  Surgery
 Passive exercises  Monitoring
are insufficient
for this purpose.
 Should be
dynamic and
isometric
Splints
Exercise. To keep as strong as possible and prevent contractures,
probably the best therapy, at least at first, is to stay active, to walk, run,
and play. While range-of-motion and stretching exercises may help), it is
even better to involve the child in games, work, and other activities that
keep his joints flexible. Even though he is slow and awkward, encourage
him to take part. Feeling sorry for him and just letting him sit is the
worst thing you can do.
Braces. Long-leg braces should not be used until absolutely necessary, as
they will let the child's legs grow weaker faster. Sometimes lightweight
plastic ankle splints, worn day and night, will help delay ankle contractures
and keep him walking better)
contractures of the knees and hips begin to develop, try resting or sleeping with 'sand
bags' to press down the legs and help straighten them.
Other aids. The child will reach a point where he needs to use
crutches. Later, (often by age 10) he will not be able to walk. Do not
force him when it becomes too hard. Instead, try to obtain or make
a wheelchair. At first, the child may be able to roll it himself. But as
his weakness progresses, he may need to be pushed.
Breathing deeply is important, especially when the muscles that move
the lungs begin to weaken. Encourage the child to sing loudly, to shout,
to blow whistles, and to blow up balloons.
PREVENTION:
The only way to prevent muscular dystrophy is for women
who may have the dystrophy gene not to have children.
This mostly means sisters of affected boys and close
relatives on the mother's side. If you have one son with
dystrophy, other sons will be likely to have it too. You
might consider not having more children.