Neuro Genetics Flashcards
inheritance of Duchenne muscular dystrophy
X linked recessive
signs/symptoms of Duchenne muscular dystrophy
delay in motor development
pelvic + shoulder girdle weakness
calf hypertrophy
gowers sign
what is elevated in Duchenne muscular dystrophy
CK
what age does Duchenne muscular dystrophy present
3-5 years old
investigations for Duchenne muscular dystrophy
muscle biopsy
electromyography
what is Beckers muscular dystrophy
milder form of Duchenne muscular dystrophy
- presents later –from age 10
- proximal muscle weakness, calf hypertrophy, Gowers sign
inheritance of Huntingtons
Autosomal dominant
what age does Huntingtons present
30-50 years old
What is defective in Huntingtons disease
Huntington gene causes abnormal CAG production (which codes for glutamate)
symptoms of Huntingtons disease
agitation, anxiety dementia involuntary movements balance + walking difficulties weight loss
pathological change in Huntingtons
caudate atrophy
what genetic condition is associated with bilateral vestibular schwannomas
neurofibromatosis 2
inheritance of an essential tremor
autosomal dominant
treatment of as essential tremor
propanolol
inheritance of Wilsons disease
autosomal recessive
