Muscular Dystrophy Flashcards

1
Q

Myotonic muscular dystrophy inheritance

A

AD

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2
Q

Duchenne and Becker inheritance

A

X-linked recessive

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3
Q

Onset 2-3 y/o. Progressive weakness. Gower’s. Calf pseudo hypertrophy

A

Duchennes

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4
Q

Scoliosis and cardiomyopathy

A

Duchennes

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5
Q

Just cardiomyopathy

A

Beckers

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6
Q

Onset 5-15 y/o. Milder weakness

A

Beckers

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7
Q

Wheelchair dependent by teenage years. Death by 20-30 from RF or HF

A

Duchennes

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8
Q

Death by 40-50 from HF

A

Beckers

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9
Q

Expansion of CTG repeat

A

Myotonic dystrophy

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10
Q

Onset 12-30. Facial weakness, hand grip myotonia, dysphasia

A

Myotonic dystrophy

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11
Q

Arrhythmias, cataracts, balding, testicular atrophy/infertility

A

Myotonic dystrophy

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12
Q

Dystrophin gene deletion. Absent dystrophin on staining

A

Duchennes

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13
Q

Muscle degeneration in muscular dysptrophies releases muscle enzymes into blood, causing markedly elevated serum

A

CK and aldolase

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14
Q

Symmetrically weakens proximal muscles, interstitial pulmonary disease, dysphasia, and polyarthritis

A

Autoimmune myositis

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15
Q

Increased ANA antibodies

A

Autoimmune myositis (dermatomyositis, polymyositis)

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