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Doença de Charcot-Marie-Tooth

Última revisão: 21 Oct 2024
Última atualização: 09 May 2024

Resumo

Definição

História e exame físico

Principais fatores diagnósticos

  • 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
Detalhes completos

Outros fatores diagnósticos

  • 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
Detalhes completos

Fatores de risco

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

Investigações diagnósticas

Primeiras investigações a serem solicitadas

  • estudos de condução nervosa (ECN)
Detalhes completos

Investigações a serem consideradas

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

Algoritmo de tratamento

Contínua

todos os pacientes

Colaboradores

Autores

Carly E. Siskind, MS, CGCL

Clinical Assistant Professor (Affiliated)

Certified Genetic Counselor

Stanford Health Care

Stanford University

Stanford

CA

Declarações

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.

Agradecimentos

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

Declarações

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.

Revisores

Reza Sadjadi, MD

Neurologist

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

Assistant Professor of Neurology

Harvard Medical School

Boston

MA

Declarações

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

Declarações

PS declares that he has no competing interests.

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