Muscle Disease Flashcards

1
Q

What are the differences between type 1 and type 2 muscle fibers?

A

type 1: red, slow, aerobic metabolism

type 2: white, fast, anaerobic

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2
Q

In the sarcomere unit, which bands shorten with contraction?

A

H and I bands

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3
Q

Steroids cause atrophy of what muscle fibers?

A

type 2

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4
Q

What is the inheritance of Duchenne and Becker’s MD?

A

XR

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5
Q

What is seen on biopsy for Duchenne MD?

A

muscle fiber necrosis and regeneration

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6
Q

What is the inheritance of Facioscapulohumeral dystrophy? What chromosome is affected?

A

AD

Ch 4

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7
Q

What is the only MD with chronic inflammatory cells in the muscle?

A

Facioscapulohumeral dystrophy

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8
Q

What is the most common MD in adults? Whats the inferitance?

A

Myotonic MD

AD

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9
Q

What is the genetics of myotonic MD?

A

trinucleotide repeat on Ch 19

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10
Q

What is the treatment for myotonic MD?

A

quinine or procainamide or phenytoin

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11
Q

What are some key clinical characteristics of myotonic MD?

A

muscles are unable to relax after contraction (myotonia), dysrhythmias, decreased intelligence, cataracts (90%), endocrine dysfunction (with testicular atrophy), temporalis and masseter atrophy, and frontal balding in both sexes

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12
Q

The inheritance of the glycogen storage diseases is _____.

A

AR

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13
Q

What is Pompe disease?

A

infantile form of acid maltase deficiency

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14
Q

What is the deficiency in McArdle’s disease?

A

myophophorylase deficiency

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15
Q

What are the symptoms of McArdle’s disease?

A

muscle cramps with activity

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16
Q

Phosphofructokinase is similar to what disease?

A

McArdle’s disease

17
Q

What type of disease is Lafora’s disease?

A

glycogen storage disease

18
Q

Which two diseases have lipid storage in vacuoles?

A

carnitine deficiency and Fabry disease

19
Q

What is the inheritance of malignant hyperthermia?

A

AD

20
Q

What is the mechanism of action of dantrolene?

A

reducing the Ca2+ release from the sarcoplasmic reticulum

21
Q

What is the defect in malignant hyperthermia?

A

defect in a Ca2+ release channel (ryanodine receptor) with increased Ca2+ release from the sarcoplasmic reticulum

22
Q

What is the cause for bacterial myositis?

A

staph aureus

23
Q

What is the most frequent acquired inflammatory myopathy in adults?

A

polymyositis

24
Q

What is seen on biopsy in polymyositis?

A

T cells and macrophages in the muscle fibers; inflammation in the endomysium

25
Q

What percent of dermatomyositis is associated with cancer?

A

15%

26
Q

Inclusion body myositis has what type of inclusion?

A

intranuclear inclusion