Hereditary transthyretin amyloidosis with hand weakness and bulbar involvement.

Abstract excerpt

A 76-year-old man developed progressive motor weakness, bulbar symptoms and hand muscle atrophy, initially suspected to be due to motor neurone disease. Unexpected findings on cardiological evaluation identified amyloidosis, and genetic testing confirmed the TTR p.Val50Met mutation, indicating late-onset hereditary transthyretin amyloidosis with a mixed neuropathic and cardiac phenotype. The diagnosis was delayed...

Topics

• Humans
• Male
• Aged
• Amyloid Neuropathies, Familial
• Muscle Weakness
• Hand
• Mutation