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
Autores
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 revisores
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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