Muscular Dystrophy Flashcards
Myotonic muscular dystrophy inheritance
AD
Duchenne and Becker inheritance
X-linked recessive
Onset 2-3 y/o. Progressive weakness. Gower’s. Calf pseudo hypertrophy
Duchennes
Scoliosis and cardiomyopathy
Duchennes
Just cardiomyopathy
Beckers
Onset 5-15 y/o. Milder weakness
Beckers
Wheelchair dependent by teenage years. Death by 20-30 from RF or HF
Duchennes
Death by 40-50 from HF
Beckers
Expansion of CTG repeat
Myotonic dystrophy
Onset 12-30. Facial weakness, hand grip myotonia, dysphasia
Myotonic dystrophy
Arrhythmias, cataracts, balding, testicular atrophy/infertility
Myotonic dystrophy
Dystrophin gene deletion. Absent dystrophin on staining
Duchennes
Muscle degeneration in muscular dysptrophies releases muscle enzymes into blood, causing markedly elevated serum
CK and aldolase
Symmetrically weakens proximal muscles, interstitial pulmonary disease, dysphasia, and polyarthritis
Autoimmune myositis
Increased ANA antibodies
Autoimmune myositis (dermatomyositis, polymyositis)