Muscular Dystrophies Flashcards Preview

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Flashcards in Muscular Dystrophies Deck (11)
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1
Q

Calf pseudohypertrophy?

A

Muscular dystrophy (most commonly Duchenne

2
Q

Child uses arms to stand up from squat?

A

Gowers sign (Duchenne muscular dystrophy)

3
Q

Pathogenesis of Duchenne Muscular Dystrophy?

A

Spontaneous Frame shift => Deletion or insertion of a number of nucleotides not divisible by 3=> misreading=> truncated, nonfunctional protein=> inhibited muscle regeneration

4
Q

Dystrophin gene has increased chance of spontaneous mutation why?

A

DMD is Dystrophin gene (DMD) is the largest

protein-coding human gene

5
Q

What does Dystrophin do?

A

Connects intracellular (actin) to the transmembrane proteins α- and β-dystroglycan=> helps anchors muscle fibers

6
Q

Dystophin helps anchor which two muscle fibers?

A

Skeletal and Cardiac

7
Q

MCC of death?

A

Dilated Cardiomyopathy

8
Q

Genetics of duchenne? Female carriers of this disease variably affected depending on the percentage of?

A

X linked

Inactivation of the X chromosome

9
Q

Another term for inactivation of the X chromosome?

A

Lyonization

10
Q

What is the difference between Duchenne’s and Becker’s? Why is Becker more mild?

A

Non-frame frameshift mutation=> partially functional disorder

11
Q

Fragile X is a disorder due to?

A

X-Linked Defect on FMR1 Gene=>everything is large