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
2
Q
what are dystrophinopathies
A
mutations on the dystrophin gene - Duchenne, Becker
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
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
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
