Related Experiment Video
Updated: Aug 6, 2026
07:43
Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons
Published on: January 7, 2019
Diagnostic Pitfalls in Hereditary Neurological Disorders: Machado-Joseph Disease Presenting as Charcot-Marie-Tooth
Enoch Chi Ngai Lim1, Chi Eung Danforn Lim1,2,3
1Translational Research Department Specialist Medical Services Group Earlwood New South Wales Australia.
Clinical Case Reports
|July 24, 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.
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