Introduction
Huntington Disease (HD): Autosomal dominant progressive neurodegenerative disease; chromosome 4 (expanded CAG repeat) Onset typically 35–55 years; each generation may have earli...
Huntington Disease (HD): - Autosomal dominant progressive neurodegenerative disease; chromosome 4 (expanded CAG repeat) - Onset typically 35–55 years; each generation may have earlier onset (anticipation) - Classic triad: Chorea (involuntary jerky movements), cognitive decline (dementia), psychiatric symptoms (depression, personality changes, psychosis) - Progressive motor, cognitive, psychiatric deterioration over 10–25 years - No cure; treatment: tetrabenazine (chorea), antipsychotics, antidepressants, supportive care - Genetic counseling: 50% inheritance risk; genetic testing available Trigeminal Neuralgia (Tic Douloureux): - Sudden, severe, brief (seconds to minutes) electric shock-like facial pain along CN V distribution (cheek, jaw, teeth, gums, lip) - Most common in women >50; associated with MS (in younger patients) - Triggers: touching the face, chewing, cold wind, talking, brushing teeth, washing face — even light touch ('trigger zones') - Treatment: carbamazepine (first-line), gabapentin, baclofen; microvascular decompression surgery Guillain-Barré Syndrome (GBS): - Autoimmune peripheral polyneuropathy — usually follows respiratory or GI infection (Campylobacter most common) - Ascending flaccid paralysis: starts in lower extremities, ascends upward - Deep tendon reflexes absent - Pain (often severe, neuropathic) in the early phase - Autonomic dysfunction: BP fluctuations,...
