Neurodegenerative diseases and neurodevelopmental diseases Flashcards
(5 cards)
1
Q
Freidrichs ataxia
A
progressive unsteadiness of gait
distal muscle weakness
loss of vibration and joint position
nystagmus
dysarthric speech
hammer toes
bilateral pes cavus
hypretrophic cardiomyopathy
manifests before 10yo
2
Q
Ataxia Telangiectasia
A
most common degenerative ataxia
abnormal immunological functions - IgA, IgG, IgE - sinopulmonary infections
lymphoreticular malignancies & brain tumours
3
Q
ASD
A
abnormality of neural migration or connectivity
4
Q
Charcot marie tooth
A
hereditary sensory and and motor neuropathy
slim calves
high arched feet
5
Q
Spinal muscular atrophy T3
A
symptoms begin after 18 months
proximal muscle weakness - ‘clumsy’
