2型夏科-马里-图斯神经病变——已停用章节，仅作历史参考

Charcot-Marie-Tooth Neuropathy Type 2 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY

作者信息

Bird Thomas D

机构信息

Seattle VA Medical Center, Departments of Neurology and Medicine, University of Washington, Seattle, Washington

PMID:20301462

Abstract

UNLABELLED

NOTE: THIS PUBLICATION HAS BEEN RETIRED. THIS ARCHIVAL VERSION IS FOR HISTORICAL REFERENCE ONLY, AND THE INFORMATION MAY BE OUT OF DATE.

CLINICAL CHARACTERISTICS

Charcot-Marie-Tooth hereditary neuropathy type 2 (CMT2) is an axonal (non-demyelinating) peripheral neuropathy characterized by distal muscle weakness and atrophy, mild sensory loss, and normal or near-normal nerve conduction velocities. CMT2 is clinically similar to CMT1, although typically less severe. Peripheral nerves are not enlarged or hypertrophic. The subtypes of CMT2 are similar clinically and distinguished only by molecular genetic findings.

DIAGNOSIS/TESTING: The diagnosis is based on clinical and EMG/NCV findings, and in many instances by identification of diagnostic changes in one of the genes that determine the CMT2 subtypes.

MANAGEMENT

: Treatment by a team including a neurologist, physiatrists, orthopedic surgeons, physical, and occupational therapist; special shoes and/or ankle/foot orthoses (AFO) to correct foot drop and aid walking; surgery as needed for severe pes cavus; forearm crutches, canes, wheelchairs as needed for mobility; exercise as tolerated; symptomatic treatment of pain, depression, sleep apnea, restless legs syndrome. : Daily heel cord stretching to prevent Achilles' tendon shortening. : Monitoring gait and condition of feet to determine need for bracing, special shoes, surgery. : Obesity, which makes ambulation more difficult; medications known to cause nerve damage (e.g., vincristine, isoniazid, nitrofurantoin). : Career and employment counseling.

GENETIC COUNSELING

Most subtypes of CMT2 are inherited in an autosomal dominant manner; however, some are inherited in an autosomal recessive manner. Most probands with an autosomal dominant CMT2 subtype have inherited the pathogenic variant from an affected parent. The offspring of an individual with autosomal dominant CMT2 are at a 50% risk of inheriting the pathogenic variant.

摘要

未标注

注意：本出版物已停用。此存档版本仅用于历史参考，信息可能过时。

临床特征

遗传性运动感觉神经病2型（CMT2）是一种轴索性（非脱髓鞘性）周围神经病，其特征为远端肌肉无力和萎缩、轻度感觉丧失以及神经传导速度正常或接近正常。CMT2在临床上与CMT1相似，尽管通常症状较轻。周围神经无增粗或肥大。CMT2的各亚型在临床上相似，仅通过分子遗传学发现来区分。

诊断/检测：诊断基于临床及肌电图/神经传导速度检查结果，在许多情况下还需鉴定决定CMT2各亚型的基因之一中的诊断性改变。

管理

由包括神经科医生、物理医学与康复医生、骨科医生、物理治疗师和职业治疗师在内的团队进行治疗；使用特殊鞋子和/或踝足矫形器（AFO）纠正足下垂并辅助行走；严重高弓足时按需进行手术；根据需要使用前臂拐杖、手杖、轮椅辅助行动；进行可耐受的运动；对疼痛、抑郁、睡眠呼吸暂停、不安腿综合征进行对症治疗。每日进行跟腱拉伸以防止跟腱缩短。监测步态和足部状况以确定是否需要支具、特殊鞋子或手术。肥胖会使行走更加困难；已知某些药物会导致神经损伤（如长春新碱、异烟肼、呋喃妥因）。提供职业和就业咨询。