Dystrophinopathies Flashcards

1
Q

What is the inheritance pattern of the dystrophinopathies?

A

X-linked recessive

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2
Q

What causes the dystrophinopathies?

A

Mutation of the gene encoding for dystrophin on Xp21

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3
Q

What type of mutation occurs in Duchenne muscular dystrophy?

A

Frameshift mutation resulting in one or both of the binding sites being lost - severe form

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4
Q

What type of mutation occurs in Becker muscular dystrophy?

A

Non-frameshift insertion in the dystrophin gene resulting in both binding sites being preserved - milder form

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5
Q

What are the signs of Duchenne muscular dystrophy?

A

Progressive proximal muscle weakness 5 yrs +
Calf pseudohypertrophy
Gower’s sign: walking up legs with arms
30% of patients have intellectual impairment

Poor prognosis

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6
Q

What are the signs of Becker muscular dystrophy?

A

Onset 10 yrs +

Intellectual impairment less common

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