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Updated: May 31, 2026
07:43
Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons
Published on: January 7, 2019
Mitochondrial disease mimicking Charcot-Marie Tooth disease
M Needham1, J Duley, S Hammond
1Department of Neurology, Royal North Shore Hospital and University of Sydney, Sydney, New South Wales, Australia.
BMJ Case Reports
|July 7, 2011
Summary
Mitochondrial myopathy, neuropathy, and gastrointestinal encephalopathy (MNGIE) can mimic Charcot-Marie tooth disease (CMT). Early MNGIE diagnosis requires monitoring for eye and abdominal symptoms in young, mutation-negative CMT patients.
Area of Science:
- Neurology
- Genetics
- Gastroenterology
Background:
- Charcot-Marie tooth disease (CMT) is a diverse group of inherited peripheral neuropathies.
- Genetic defects underlie the various forms of CMT.
- Mitochondrial myopathy, neuropathy, and gastrointestinal encephalopathy (MNGIE) is a rare genetic disorder.
Purpose of the Study:
- To describe cases of MNGIE presenting as peripheral neuropathy similar to CMT.
- To highlight the importance of recognizing atypical presentations of MNGIE.
- To inform diagnostic approaches for patients with suspected CMT.
Main Methods:
- Case series describing three patients with MNGIE.
- Clinical presentation analysis focusing on initial neurological symptoms.
- Diagnostic evaluation including ophthalmological and gastrointestinal assessments.
Main Results:
- Three patients initially presented with peripheral neuropathy indistinguishable from CMT.
- Diagnosis of MNGIE was established following the development of specific eye signs and abdominal complaints.
- This suggests a potential overlap in early clinical manifestations.
Conclusions:
- MNGIE should be considered in the differential diagnosis of young patients with mutation-negative CMT.
- Continued monitoring for gastrointestinal and ophthalmological signs is crucial for early MNGIE detection.
- This underscores the need for a broad diagnostic perspective in peripheral neuropathies.
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