Overview of hereditary neuropathies
- Peter B Kang, MD, FAAP, FAAN
Peter B Kang, MD, FAAP, FAAN
- Chief, Division of Pediatric Neurology and Professor of Pediatrics
- University of Florida College of Medicine
- Section Editors
- Jeremy M Shefner, MD, PhD
Jeremy M Shefner, MD, PhD
- Section Editor — Neuromuscular Disease
- Professor and Chair of Neurology, Barrow Neurological Institute
- Professor of Neurology, University of Arizona, Phoenix
- Clinical Professor of Neurology, Creighton University
- Douglas R Nordli, Jr, MD
Douglas R Nordli, Jr, MD
- Section Editor — Pediatric Neurology
- Chief of Neurology
- Children’s Hospital Los Angeles
- Vice Chair of Neurology
- USC Keck School of Medicine
The hereditary peripheral neuropathies have been classified based upon clinical characteristics, mode of inheritance, electrophysiologic features, metabolic defect, and subsequently upon specific genetic loci. The primary hereditary neuropathies predominantly or exclusively affect peripheral nerves and produce symptoms of peripheral nerve dysfunction. Other hereditary neuropathies affect both the central and peripheral nervous systems and, in some cases, other organs; in such patients, symptoms related to the peripheral neuropathy may be overshadowed by other manifestations of the disease.
This topic will provide an overview of the hereditary neuropathies. Detailed discussions are found separately. (See "Hereditary primary motor sensory neuropathies, including Charcot-Marie-Tooth disease" and "Hereditary sensory and autonomic neuropathies" and "Neuropathies associated with hereditary disorders".)
Historically, the primary hereditary neuropathies were designated by eponyms that had the connotation of specific clinical features (eg, Charcot-Marie-Tooth [CMT] disease or Dejerine-Sottas disease). However, phenotypic variability resulted in substantial diagnostic confusion. The Dyck classification developed in the 1970s helped to define specific types based upon clinical and electrophysiologic features , though the popularity of the CMT eponym has had a resurgence since the 1990s, specifically for hereditary motor sensory neuropathies, especially as a more comprehensive classification tree based on associated genes has been built upon the original broad CMT categories that were based largely on inheritance patterns and neurophysiology.
●Many of the primary hereditary neuropathies are divided into motor-sensory (CMT) and sensory-autonomic neuropathies.
●The motor-sensory category was subdivided into types 1 through 7 and the sensory neuropathies into types 1 through 5. Many of these types were further divided into subcategories.
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- HEREDITARY MOTOR AND SENSORY NEUROPATHIES
- HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSY
- HEREDITARY BRACHIAL PLEXOPATHY
- HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES
- GIANT AXONAL NEUROPATHY
- NEUROPATHIES ASSOCIATED WITH GENERALIZED DISORDERS
- INFORMATION FOR PATIENTS