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.
基金:
National Institutes of HealthUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USA [K08 NS065007-01A1, NS36797, 1U54NS065712-01, 1R01NS075764-01A1]; Muscular Dystrophy AssociationMuscular Dystrophy Association; NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKEUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Institute of Neurological Disorders & Stroke (NINDS) [U54NS065712, R01NS036797, K08NS065007, R01NS075764] Funding Source: NIH RePORTER
第一作者单位:[1]Mayo Clin, Dept Neurol, Rochester, MN 55905 USA[2]Mayo Clin, Dept Med Genet, Rochester, MN 55905 USA[*1]Mayo Clin, Dept Neurol, 200 1st St SW, Rochester, MN 55905 USA
通讯作者:
通讯机构:[1]Mayo Clin, Dept Neurol, Rochester, MN 55905 USA[2]Mayo Clin, Dept Med Genet, Rochester, MN 55905 USA[*1]Mayo Clin, Dept Neurol, 200 1st St SW, Rochester, MN 55905 USA
推荐引用方式(GB/T 7714):
Klein Christopher J.,Duan Xiaohui,Shy Michael E..INHERITED NEUROPATHIES: CLINICAL OVERVIEW AND UPDATE[J].MUSCLE & NERVE.2013,48(4):604-622.doi:10.1002/mus.23775.
APA:
Klein, Christopher J.,Duan, Xiaohui&Shy, Michael E..(2013).INHERITED NEUROPATHIES: CLINICAL OVERVIEW AND UPDATE.MUSCLE & NERVE,48,(4)
MLA:
Klein, Christopher J.,et al."INHERITED NEUROPATHIES: CLINICAL OVERVIEW AND UPDATE".MUSCLE & NERVE 48..4(2013):604-622