Week 5: Medical Genetics- Movement Disorders Flashcards
Inheritance of Dopa Responsive Dystonia
AD
2 features that accompany dopa-responsive dystonia
Parkinson features, diurnal variation
Inheritance of myoclonus dystonia
AD (imprinting)
2 features that accompany myoclonus dystonia
Myoclonus, psych features
Myoclonus dystonia is responsive to
Alcohol
Inheritance of rapid onset dystonia parkinsonism
AD
4 features that accompany rapid onset dystonia parkinsonism
parkinson, dysarthric speech, seizures, psychosis
3 genes in AR Parkinson Disease
PARK2, PINK1, DJ-1
3 genes in AD Parkinson Disease
LRRK2, GBA, VPS35
Inheritance of spinocerebellar ataxia
AD
3 major features of spinocerebellar ataxia
Ataxia, spasticity, ophthalmoplegia
Inheritance of Friedrich’s ataxia
AR
Mutation in Friedrich’s ataxia
GAA trinucleotide repeat
In addition to ataxia, what other features are seen in Friedrich’s ataxia?
Cardiomyopathy, scoliosis, diabetes
Inheritance of ataxia with oculomotor apraxia
AR
3 major features of ataxia with oculomotor apraxia
Cerebellar ataxia, oculomotor apraxia, peripheral axonal sensory neuropathy
Inheritance of ataxia Telangiectasia
AR
Neurologic features in Ataxia Telangiectasia
Ataxia, chorea, dystonia, oculomotor apraxia
Non-Neurologic features in Ataxia Telangiectas
Telangiectasis, immunodeficiency, increased risk for leukemia/lymphona; elevated serum AFP
Inheritance of Ataxia with Vit E deficiency
AR
Neurologic symptoms in Ataxia with Vit E deficiency
Progressive ataxia, dysarthria, loss of proprioception, areflexia
Non-neurologic symptom in Ataxia with Vit E deficiency
Retinitis pigmentosa
