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janesa – D2007 1
• Example: difficulty in buttoning shirt, • non-specific changes
use of utensils but can lift arms
5. biochemical exam
MUSCLE • genetic markers
• Motor component
• Distribution is proximal
• Can be symmetric or asymmetric NOTE: one muscle fiber is like one strand of
• Example: can’t get up from the hair (about 50um)
chair
PROGRESSIVE MUSCLAR DYSTROPHY
CLINICAL MANIFESTATIONS OF CLINICAL PATTERN USUAL
WEAKNESS: INHERITANCE
1. inability to ambulate/ atrophy of proximal DUCHENNE DYSTROPHY X-LINKED
muscles BECKER’S DYSTROPHY X-LINKED
• pelvic and shoulder girdle muscles LIMB-GIRDLE AUTOSOMAL
• example: difficulty in getting up from RECESSIVE
SCAPULOHUMERAL AUTOSOMAL
stool or toilet bowl, difficulty in
RECESSIVE
combing hair
FASCIOSAPULOHUMERAL AUTOSOMAL
2. gower’s maneuver DOMINANT
OCULOPHARYNGEAL AUTOSOMAL
• generalized muscle weakness
DOMINANT
• example: difficulty in getting up from
sitting on the floor (Indian sit) NOTE: becker’s is less severe than
duchenne.
3. respiratory embarrassment/failure : autosomal recessive – male and
• severe disorder female are both affected, will not spare a
generation
NOTE: sensory is still intact
DUCHENNE MUSCULAR DYSTROPHY
DIAGNOSTIC TEST: • dystrophinopathies (chromosome xp21)
1. Creatinine Kinase
• peculiar way of walking (waddling gait-
• Normally found inside the muscle
protruding abdomen due to weak spinal
and normally leaks out from it in muscles
small amounts specially during
• progressive muscle weakness
exercise
• onset is around 5-7 y/o
• Normal value: <14 iu
• wheelchair bound by the age of 12-15
• Increased when there is destruction
of muscle membrane • usual complication is respiratory infxn
2. electromyography STUDY:
• done by inserting a needle into a • duchenne
muscle • beckers
• take note of the response of the • limb-girdle
muscle • inflammatory myopathy
• dermatopolymyositis
3. pedigree/chromosomal studies • periodic paralysis – associated
• to assess the inheritance pattern flaccidity, tendency of remission and
• to indicate the transmission of relapse
disease
• affects 50% of children if sex-linked
• 50% are carriers
4. muscle biopsy