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Doença de Charcot-Marie-Tooth

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  • Overview
  • Theory
  • Diagnosis
  • Management
  • Follow up
  • Resources
Последний просмотренный: 13 Nov 2025
Last updated: 09 May 2024

Резюме

Определение

Анамнез и осмотр

Ключевые диагностические факторы

  • história familiar de neuropatia, pés cavos ou marcha irregular
  • dificuldades para caminhar
  • pés cavos
  • marcha em steppage
  • arreflexia ou hiporreflexia difusa do tendão profundo
  • força muscular reduzida
  • sensação reduzida
  • sintomas sensoriais temporários
  • sintomas motores temporários
Полная информация

Другие диагностические факторы

  • cirurgia prévia nos pés e tornozelos
  • dificuldades de equilíbrio na infância
  • fraqueza do tornozelo
  • anormalidades sensoriais nas mãos e nos pés
  • marcha digitígrada
  • desenvolvimento motor tardio
  • ataxia sensorial
  • cifoescoliose
Полная информация

Факторы риска

  • história familiar de neuropatia, pés cavos (arcos dos pés elevados com pododáctilos em martelo) ou marcha irregular
Полная информация

Диагностические исследования

Исследования, которые показаны в первую очередь

  • estudos de condução nervosa (ECN)
Полная информация

Исследования, проведение которых нужно рассмотреть

  • teste genético
  • radiografia do quadril
  • radiografias da coluna cervical, torácica, lombar e da pelve
  • ultrassonografia de nervo
  • biópsia de nervo
  • teste de função pulmonar
Полная информация

Алгоритм лечения

ПРОДОЛЖЕНИЕ

todos os pacientes

Составители

Авторы

Carly E. Siskind, MS, CGCL

Clinical Assistant Professor (Affiliated)

Certified Genetic Counselor

Stanford Health Care

Stanford University

Stanford

CA

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

MA

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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