Neurogenetics Flashcards
Duchenne inheritance
X-linked recessive
What age does onset of weakness occur in duchenne’s?
3-4 years
- pelvic and shoulder girdles
- wheelchair bound by 10-12 years
Why do people with duchenne’s die?
Involvement of cardiac and respiratory muscles (weakness etc)
-usually die in their 20’s
Which conditions might you see calf hypertrophy in?
DMD and Becker’s
What modification of the dystrophin gene leads to duchenne’s?
- Large scale deletions of dystrophin gene in 70% of DMD boys
- Point mutations, small insertions and deletion in remaining 30%
What else might cause a muscular dystrophy?
Sarcoglycan deficiencies
Huntington inheritance
Autosomal dominant
Features of Huntington’s disease
- Involuntary movements
- Depression
- Progression to severe dependency and death over 15-20 years
Early clinical signs of huntington’s
Clumsiness Irritability Agitation Apathy Anxiety Abnormal eye movements Disinhibition Delusions Hallucinations Depression
Gowers sign
DMD
Toe-walking
DMD
How would you diagnose DMD?
- raised serum CK
- EMG
- muscle biopsy
- molecular genetic testing (screen for deletions)
DDX for DMD?
Autosomal recessive limb girdle muscular dystrophies - caused by sarcoglycan deficiencies
Onset of Huntington’s
Onset between ages 30 and 50
age dependent penetrance - variable
Caudate atrophy in which disease?
Huntington’s
CAG repeats and Huntington’s
Disease becomes penetrant when you get 40+ CAG repeats
Age dependent penetrance and Huntington’s
age 20: 1 in 2
age 50: 1 in 3
age 70: 1 in 11
(i.e. if no symptoms the older you get, the less likely you are to develop HD)