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
what is Wilsons disease
copper accumulation in tissues
inheritance of tuberous sclerosis
autosomal dominant
cutaneous features of tuberous sclerosis
depigmented ‘ash leaf’ macules
rough patches of skin on lumbar spine – Shagreen patches
subungal fibromata
adenoma sebaceum – Butterly distribution over nose
neurological features of tuberous sclerosis
epilepsy
developmental delay / intellectual impairment
