Muscular Dystrophies Flashcards

1
Q

what is the pathogenesis?

A

progressive muscle weakness and wasting

changes in muscle itself - but not the nerve or NMJ

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2
Q

what are dystrophinopathies

A

mutations on the dystrophin gene - Duchenne, Becker

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3
Q

what are other muscular dystrophies which don’t have dystrophin mutation?

A

other proteins whih complex with dystrophin protein - similar symptoms to dystrophinopathies

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4
Q

what happens if there is no dystrophin?

A
sarcolemma becomes unstable 
cellular proteins start escaping the damaged cell and Ca2+ enters the cell 
this leads to cell death 
short term 
- muscle regeneration 
- muscle fibres of different sizes 
long term 
- muscle atrophy 
- fat and fibrotic tissue innervation 
- weak muscles - noticeable in legs
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5
Q

who gets it?

A

usually X-linked recessive hereditary (only boys) - 1 copy of the dystrophin genes for boys, although women can be manifesting/non-manifesting carriers
sporadic mutation also possible

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