Inherited neuropathies: Clinical overview and update

Authors


  • Disclosure: Dr. Klein serves as coeditor of the Journal of the Peripheral Nervous System.

  • This study was supported by the National Institutes of Health (K08 NS065007-01A1 and NS36797 to C.J.K., and 1U54NS065712-01 and 1R01NS075764-01A1 to M.E.S.) and the Muscular Dystrophy Association.

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. Muscle Nerve 48: 604–622, 2013

Ancillary