Diagnostic Pitfalls in Hereditary Neurological Disorders: Machado-Joseph Disease Presenting as Charcot-Marie-Tooth Disease: A Case Report.

Authors

Enoch Chi Ngai Lim, Chi Eung Danforn Lim

Published in

Clinical case reports. Volume 14. Issue 7. Pages e73182. Epub Jul 22, 2026.

Abstract

We report a 60-year-old Chinese woman with Machado-Joseph disease (MJD/SCA3), initially managed as Charcot-Marie-Tooth disease due to distal sensory loss, pes cavus, and areflexia. Later cerebellar, bulbar, and ocular signs, together with ATXN3 CAG expansion, clarified the diagnosis and highlighted the need to revisit atypical hereditary neuropathy diagnoses.

PMID:
42495432
Bibliographic data and abstract were imported from PubMed on 24 Jul 2026.

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