This is part of the Med in Small Doses series, which aims to give you a snapshot of a disease or disorder.
AD movement disorder due to CAG repeats in HD gene. 25-50yo. Commonly presents at age 40.
Dead within 15yrs. Prevalence 5/100 000.
HUNT 4 DATE: HUNTington's on chromosome 4, with cauDATE nucleus involvement.
PATHO: Autosomal dominant HD gene 4p16.3. Toxic gain-of-function on Huntington → protein aggregation → atrophy of caudate nucleus & putamen (striatum). Cortical atrophy, particularly frontal lobe. Ventricular dilatation.
CFs: Motor symptoms before cognitive impairment. Chorea, mental changes/dementia.
Ix: Genetic testing [sensitive (98.8%) & specific (100%)], Imaging Studies (e.g. MRI)
Tx: Symptomatic only: treat chorea (benzodiazepines), bradykinesia (L-dopa/DA Antagonists), delusions, depression (SSRIs). Physiotherapy.
No comments:
Post a Comment