disorders Flashcards
1
Q
what is the molecular defect seen in Huntington’s
A
CAG repeats - abnormally long norm 20 repeats
2
Q
how is duchennes inherited
A
x-linked recessive
3
Q
prognosis for duchennes
A
death by 20 -resp muscles failure
4
Q
when does duchennes usually present
A
3-4 years
5
Q
what is gene defect in duchennes
A
dystrophin deficiency
6
Q
what muscles may be hypertrophied in duchennes
A
Calf hypertrophy
7
Q
how would you diagnose duchennes
A
1) increased serum CK
2) molecular genetic test
3) muscle biopsy
4) EMG
8
Q
is spinal muscular atrophy dom or recessive
A
recessive
9
Q
how would spinal muscular atrophy present
A
proximal skeletal wasting and responsible muscle weakness
10
Q
what is the genetic defect in spinal muscular atrophy
A
SMN1 deficiency
