Última revisão: 27 Out 2020
Última atualização: 09 Março 2018

Resumo

Definição

História e exame físico

Principais fatores de diagnóstico

  • 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

Outros fatores de diagnóstico

  • cirurgia prévia nos pés e tornozelos
  • dificuldades de equilíbrio na infância
  • fraqueza do tornozelo
  • anormalidades sensoriais nas mãos e nos pés
  • marcha digitígrada
  • marcos motores tardios sem deambulação
  • ataxia sensorial
  • cifoescoliose

Fatores de risco

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

Exames diagnósticos

Algoritmo de tratamento

Colaboradores

Clinical Assistant Professor (Affiliated)

Certified Genetic Counselor

Stanford Health Care

Stanford University

Stanford

CA

Divulgações

CES has been given honoraria by the Invitae Corporation for giving a webinar on CMT, and honoraria by the National Society of Genetic Counselors for giving a webinar on neuromuscular conditions. CES is an unpaid member of the Charcot-Marie-Tooth Association Advisory Board. CES has professional relationships with some authors of works found in this monograph.

Professor of Neurology

Director

EMG Laboratory

Co-Director

Neuromuscular Clinic

Cedars-Sinai Hospital

Los Angeles

CA

Divulgações

RAL is a consultant for Pharnext (currently doing a clinical trial in Charcot-Marie-Tooth disease), 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 monograph.

Colegas revisoresMOSTRAR TODOS

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

Divulgações

PS declares that he has no competing interests.

Assistant Professor

Department of Neurology and Molecular and Human Genetics

Baylor College of Medicine

Neurosensory Center

Houston

TX

Divulgações

KS is an author of a reference cited in this monograph.

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