Book chapter
Genetic Peripheral Neuropathies
Swaiman's Pediatric Neurology, pp.1411-1411
Elsevier, Seventh Edition
2025
DOI: 10.1016/B978-0-443-10944-7.00162-1
Abstract
Inherited neuropathies can present throughout the lifespan and in general those with early onset have greater impairment and more rapid progression. These are often referred to collectively as Charcot-Marie-Tooth (CMT) disease. Characterization of these mixed sensorimotor disorders has been classically based upon autosomal dominant (demyelinating, CMT type 1 and axonal, CMT type 2), autosomal recessive (CMT type 4 and AR-CMT2), and X-linked (CMT-X) inheritance, and are typically length-dependent (distal>proximal, legs>arms). Also included are hereditary neuropathy with liability to pressure palsy (HNPP), distal hereditary neuropathy (dHMN or distal SMA) and hereditary sensory and autonomic neuropathy (HSAN). Over 100 genes have now been identified as the cause for this constellation of disorders. Pediatric presentation is often with a clumsy and slow gait. These are progressive disorders and may require orthotics and surgery. Impaired hand function typically presents after leg involvement. Most patients remain ambulant and have a normal lifespan. Supportive care with physical and occupational therapy is a mainstay of treatment. Gene-directed therapies with antisense oligonucleotides, RNA interference, AAV mediated gene therapy, and small molecule drugs are now in pre-clinical development and early phase clinical trials, bringing hope to patients living with CMT. This chapter reviews these topics.
Details
- Title: Subtitle
- Genetic Peripheral Neuropathies
- Creators
- Michael E ShyKathryn M Brennan
- Contributors
- Stephen Ashwal (Editor)Phillip L. Pearl (Editor)
- Resource Type
- Book chapter
- Publication Details
- Swaiman's Pediatric Neurology, pp.1411-1411
- Edition
- Seventh Edition
- Publisher
- Elsevier; Amsterdam
- DOI
- 10.1016/B978-0-443-10944-7.00162-1
- Language
- English
- Date published
- 2025
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Iowa Neuroscience Institute
- Record Identifier
- 9984829019302771
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