Inherited Neuropathies

被引:30
|
作者
Li, Jun [1 ]
机构
[1] Vanderbilt Univ, Sch Med, Ctr Human Genet Res, Dept Neurol,Ctr Mol Neurosci, Nashville, TN 37232 USA
关键词
Charcot-Marie-Tooth disease; neuropathy; dysmyelination; demyelination; axonal degeneration; nerve conduction study; sural nerve biopsy; PMP22; MPZ; mitofusin-2; genetics; DNA testing; MARIE-TOOTH-DISEASE; UNUSUAL ELECTROPHYSIOLOGICAL FINDINGS; HEREDITARY NEURALGIC AMYOTROPHY; CHROMOSOME; 17P11.2; DUPLICATION; PERIPHERAL NERVOUS-SYSTEM; RNA SYNTHETASE MUTATIONS; SPINAL MUSCULAR-ATROPHY; ASCORBIC-ACID TREATMENT; PRESSURE PALSIES; PMP22; GENE;
D O I
10.1055/s-0032-1329198
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
With a prevalence of 1 in 2500 people, inherited peripheral nerve diseases, collectively called Charcot-Marie-Tooth disease (CMT), are among the most common inherited neurologic disorders. Patients with CMT typically present with chronic muscle weakness and atrophy in limbs, sensory loss in the feet and hands, and foot deformities. Clinical similarities between patients often require genetic testing to achieve a precise diagnosis. In this article, the author reviews the clinical and pathologic features of CMT, and demonstrates how electrodiagnostic and genetic tools are used to assist in the diagnosis and symptomatic management of the diseases. Several cases are presented to illustrate the diagnostic processes.
引用
收藏
页码:204 / 214
页数:11
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