Hereditary transthyretin amyloidosis with hand weakness and bulbar involvement

Practical Neurology 2026

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Authors: Sarah Bernsen, Patrick Weydt
DOI: 10.1136/pn-2025-004950
Cited by: 0
References: 14

Abstract

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 and complicated by minimal sensory symptoms and the atypical presentation.

Fields of Study & Subjects

Amyloidosis: Diagnosis Treatment Outcomes Parathyroid Disorders and Treatments Skin and Cellular Biology Research

Publication details

Journal / source
Practical Neurology
Volume
26
Issue
5
Pages
pn–2025
Publication date
2 January 2026
Language
EN