Journal article
INHERITED NEUROPATHIES: CLINICAL OVERVIEW AND UPDATE
Muscle & nerve, Vol.48(4), pp.604-622
10/2013
DOI: 10.1002/mus.23775
PMCID: PMC3918879
PMID: 23801417
Abstract
Inherited neuropathy is a group of common neurologic disorders with heterogeneous clinical presentations and genetic causes. Detailed neuromuscular evaluations, including nerve conduction studies, laboratory testing, and histopathologic examination, can assist in identification of the inherited component beyond family history. Genetic testing increasingly enables definitive diagnosis of specific inherited neuropathies. Diagnosis, however, is often complex, and neurologic disability may have both genetic and acquired components in individual patients. The decision of which genetic test to order or whether to order genetic tests is often complicated, and the strategies to maximize the value of testing are evolving. Apart from rare inherited metabolic neuropathies, treatment approaches remain largely supportive. We provide a clinical update of the various types of inherited neuropathies, their differential diagnoses, and distinguishing clinical features (where available). A framework is provided for clinical evaluations, including the inheritance assessment, electrophysiologic examinations, and specific genetic tests.
Details
- Title: Subtitle
- INHERITED NEUROPATHIES: CLINICAL OVERVIEW AND UPDATE
- Creators
- CHRISTOPHER J KLEIN - Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota 55905, USAXIAOHUI DUAN - Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota 55905, USAMICHAEL E SHY - Department of Neurology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA
- Resource Type
- Journal article
- Publication Details
- Muscle & nerve, Vol.48(4), pp.604-622
- DOI
- 10.1002/mus.23775
- PMID
- 23801417
- PMCID
- PMC3918879
- NLM abbreviation
- Muscle Nerve
- ISSN
- 0148-639X
- eISSN
- 1097-4598
- Publisher
- Wiley
- Grant note
- K08 NS065007 || NS / National Institute of Neurological Disorders and Stroke : NINDS
- Language
- English
- Date published
- 10/2013
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Stead Family Department of Pediatrics; Iowa Neuroscience Institute
- Record Identifier
- 9984020612102771
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