Hereditary transthyretin amyloidosis with hand weakness and bulbar involvement.
Sarah Bernsen, Patrick Weydt
✦ AI-curated · Sources linked
Case in brief
A 76-year-old man presented with progressive motor weakness, bulbar symptoms, and hand muscle atrophy, initially misdiagnosed as motor neurone disease. Cardiological evaluation revealed unexpected findings that led to the diagnosis of amyloidosis. Genetic testing confirmed the TTR p.Val50Met mutation, indicating late-onset hereditary transthyretin amyloidosis with a mixed neuropathic and cardiac phenotype.
What made this case unusual
The case was complicated by minimal sensory symptoms and an atypical presentation, which contributed to the delayed diagnosis.
Diagnostic / clinical pearl
Clinicians should consider hereditary transthyretin amyloidosis in patients with unexplained motor weakness and bulbar symptoms, especially when sensory symptoms are minimal.
Why it matters
This case highlights the importance of thorough evaluation in atypical presentations to avoid misdiagnosis and ensure timely management.