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Sections Charcot-Marie-Tooth and Other Hereditary Motor and Sensory Neuropathies
- Overview
- Presentation
- DDx
- Workup
- Treatment
- Medication
- Questions & Answers
- References
Diagnostic Considerations
The differential diagnosis of neuropathy is wide. A positive family history makes CMT likely, and a pedigree can help elucidate the inheritance pattern, which can narrow the differential diagnosis between CMT subtypes. Nerve conduction velocities, in most cases, can separate CMT1 (very slow) from CMT2 (mildly slow to normal).
It is essential to separate the demyelinating forms of CMT from acquired, potentially treatable demyelinating neuropathies. Uniform conduction slowing is seen in CMT1, whereas in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and other immune-mediated neuropathies, conduction velocity varies between segments in the same nerve and different nerves. The Guillain-Barre syndrome has similar electrodiagnostic findings to CIDP but the rapidity of onset that defines the disease should prevent confusion.
Other inherited neuropathic syndromes, such as Friedreich Ataxia and Spinal Muscular Atrophy, can be confused with CMT or have overlapping features.
Other causes of acquired neuropathy should not be overlooked. Neuropathy may be due to diabetes mellitus or other metabolic/nutritional causes, drugs of abuse such as alcohol, neurotoxic medications, infections (including leprosy, which may cause thickened, palpable nerves), compression, or vasculitis, among others.
Myopathies and muscular dystrophies can be clinically confused with CMT in some cases.
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Tables
Timothy C Parsons, MD Fellow in EMG and Neuromuscular Disease, Department of Neurology, Columbia University Medical Center, New York
Timothy C Parsons, MD is a member of the following medical societies: American Academy of Neurology
Disclosure: Nothing to disclose.
Thomas H Brannagan III, MD Associate Professor of Clinical Neurology and Director, Peripheral Neuropathy Center, Columbia University Vagelos College of Physicians and Surgeons; Co-Director, EMG Laboratory, New York-Presbyterian Hospital, Columbia Campus
Thomas H Brannagan III, MD is a member of the following medical societies: American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, Peripheral Nerve Society
Disclosure: Nothing to disclose.
Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference
Disclosure: Received salary from Medscape for employment. for: Medscape.
Neil A Busis, MD Chief of Neurology and Director of Neurodiagnostic Laboratory, UPMC Shadyside; Clinical Professor of Neurology and Director of Community Neurology, Department of Neurology, University of Pittsburgh Physicians
Neil A Busis, MD is a member of the following medical societies: American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine
Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: American Academy of Neurology<br/>Serve(d) as a speaker or a member of a speakers bureau for: American Academy of Neurology<br/>Received income in an amount equal to or greater than $250 from: American Academy of Neurology.
Nicholas Lorenzo, MD, CPE, MHCM, FAAPL Co-Founder and Former Chief Publishing Officer, eMedicine and eMedicine Health, Founding Editor-in-Chief, eMedicine Neurology; Founder and Former Chairman and CEO, Pearlsreview; Founder and CEO/CMO, PHLT Consultants; Former Chief Medical Officer, MeMD Inc
Nicholas Lorenzo, MD, CPE, MHCM, FAAPL is a member of the following medical societies: Alpha Omega Alpha, American Academy of Neurology, American Association for Physician Leadership
Disclosure: Nothing to disclose.
Dianna Quan, MD Professor of Neurology, Director of Electromyography Laboratory, University of Colorado School of Medicine
Dianna Quan, MD is a member of the following medical societies: American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, American Neurological Association
Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: American Association of Neuromuscular and Electrodiagnostic Medicine<br/>Received research grant from: Alnylam; Pfizer; Ionis; Cytokinetics; Momenta; Viela Bio; .
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Sections Charcot-Marie-Tooth and Other Hereditary Motor and Sensory Neuropathies
- Overview
- Presentation
- DDx
- Workup
- Treatment
- Medication
- Questions & Answers
- References
