Charcot-Marie-Tooth disease

Обзор 
Теория 
Диагноз 
Лечение 
Последующее наблюдение 
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Последний просмотренный: 20 Aug 2025

Last updated: 10 Dec 2024

Charcot-Marie-Tooth (CMT) disease comprises a group of hereditary peripheral neuropathies with different genetic abnormalities.

Absence of a family history does not rule out the condition.

Key features include clumsiness as a child, weak ankles, symmetrical nerve conduction changes, and a steppage gait (lifting legs up excessively to clear the toes).

Pes cavus (high foot arches with hammertoes) and distal atrophy of the hands and legs are characteristic.

Genetic testing should be carefully considered.

Appropriate rehabilitative and orthotic treatments can keep patients highly functional.

Определение

CMT disease, also known as hereditary motor and sensory neuropathy (HMSN), encompasses the majority of hereditary peripheral neuropathies. Both motor and sensory nerves are typically affected, with symmetrical changes noted on nerve conduction studies. Nerve conductions can be either demyelinating (velocity <38 m/second in ulnar nerve), or axonal (reduced amplitudes with >38 m/second velocity), or have features of both. CMT is a genetically heterogeneous condition, with over 90 genes and loci known to cause the condition when mutated.

Анамнез и осмотр

Ключевые диагностические факторы

family history of neuropathy, pes cavus, or abnormal gait
walking difficulties
pes cavus
steppage gait
diffuse deep tendon hyporeflexia or areflexia
reduced muscle strength
reduced sensation
transient sensory symptoms
transient motor symptoms

Полная информация

Другие диагностические факторы

past surgery to feet and ankles
balance difficulties in childhood
ankle weakness
sensory abnormalities in hands and feet
toe-walking
delayed motor milestones
sensory ataxia
kyphoscoliosis

Полная информация

Факторы риска

family history of neuropathy, pes cavus (high foot arches with hammertoes), or abnormal gait

Полная информация

Диагностические исследования

Исследования, которые показаны в первую очередь

nerve conduction studies (NCS)

Полная информация

Исследования, проведение которых нужно рассмотреть

genetic testing
hip x-ray
x-rays of cervical, thoracic, and lumbar spine and pelvis
nerve ultrasound
nerve biopsy
pulmonary function testing

Полная информация

Алгоритм лечения

ПРОДОЛЖЕНИЕ

all patients

Составители

Авторы

Carly E. Siskind, MS, CGCL

Clinical Assistant Professor (Affiliated)

Certified Genetic Counselor

Stanford Health Care

Stanford University

Stanford

Раскрытие информации

CES has an unpaid position on the Charcot-Marie-Tooth Association Advisory board. CES is a consultant for Guidepoint, conducting approximately five consultations a year of which may include consults for Charcot-Marie-Tooth disease. CES has received institutional funding from an Inherited Neuropathies Consortium research grant, funded by the Muscular Dystrophy Association and the National Institute for Health. CES gives lectures to Genetics graduate students at Stanford University. CES has professional relationships with some authors of references cited in this topic.

Выражение благодарностей

Dr Carly E. Siskind would like to gratefully acknowledge Prof Richard A Lewis, her previous co-contributor to this topic.

Раскрытие информации

RAL is a consultant for Pharnext, CSL Behring, and Axelacare. He is on the Medical Advisory Board for GBS-CIDP Foundation, MGFA, and MGF of Ca. He has done expert testimony related to GBS, CIDP, and other neurologic disorders, and educational talks for AAN, AANEM, CSL Behring, and Optioncare. With the exception of Pharnext, none of these relationships are related to Charcot-Marie-Tooth disease. RAL is an author of a number of references cited in this topic.

Рецензенты

Reza Sadjadi, MD

Neurologist

Director, Charcot-Marie-Tooth (CMT) Center of Excellence

Assistant Professor of Neurology

Harvard Medical School

Boston

Раскрытие информации

RS declares that he has no competing interests.

Pavel Seeman, MD, PhD

Associate Professor (Doc)

Head of the DNA Laboratory

Department of Child Neurology

Second School of Medicine

Charles University

Prague

and University Hospital Motol

Prague

Czech Republic

Раскрытие информации

PS declares that he has no competing interests.

Peer reviewer acknowledgements

BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.

Disclosures

Peer reviewer affiliations and disclosures pertain to the time of the review.

Список литературы

Our in-house evidence and editorial teams collaborate with international expert contributors and peer reviewers to ensure that we provide access to the most clinically relevant information possible.

Основные статьи

Saporta AS, Sottile SL, Miller LJ, et al. Charcot-Marie-Tooth disease subtypes and genetic testing strategies. Ann Neurol. 2011 Jan;69(1):22-33. Аннотация

Shy M, Lupski JR, Chance PF, et al. The hereditary motor and sensory neuropathies: an overview of the clinical, genetic, electrophysiologic and pathologic features. In: Dyck PJ, ed. Peripheral neuropathy. Vol 2. 4th ed. Philadelphia, PA: WB Saunders; 2005:1623-58.

Yiu EM, Bray P, Baets J, et al. Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease. J Neurol Neurosurg Psychiatry. 2022 May;93(5):530-8.Полный текст Аннотация

Murphy SM, Laura M, Fawcett K, et al. Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing. J Neurol Neurosurg Psychiatry. 2012 Jul;83(7):706-10. Аннотация

Статьи, указанные как источники

A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.

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Charcot-Marie-Tooth disease

Резюме

Определение

Анамнез и осмотр

Ключевые диагностические факторы

Другие диагностические факторы

Факторы риска

Диагностические исследования

Исследования, которые показаны в первую очередь

Исследования, проведение которых нужно рассмотреть

Алгоритм лечения

all patients

Составители

Авторы

Carly E. Siskind, MS, CGCL

Раскрытие информации

Выражение благодарностей

Раскрытие информации

Рецензенты

Reza Sadjadi, MD

Раскрытие информации

Pavel Seeman, MD, PhD

Раскрытие информации

Peer reviewer acknowledgements

Disclosures

Список литературы

Основные статьи

Статьи, указанные как источники

A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.

დიფერენციული დიაგნოზები

გაიდლაინები

პაციენტის ბროშურები

შედით სისტემაში ან გამოიწერეთ BMJ Best Practice

შედით სისტემაში ან გამოიწერეთ BMJ Best Practice

შედით სისტემაში BMJ Best Practice-ის მასალებზე სრული წვდომისთვის