Última revisão: 11 Mar 2021
Última atualização: 07 Out 2020

Resumo

Definição

História e exame físico

Principais fatores diagnósticos

  • presença de fatores de risco
  • distribuição irregular de força nos membros inferiores
  • contraturas musculotendinosas nos membros inferiores
  • desenvolvimento motor tardio
  • hipertrofia da panturrilha
  • dificuldade de deambulação e quedas
  • tônus muscular e reflexos tendinosos profundos diminuídos
  • sensibilidade normal

Outros fatores diagnósticos

  • sinal de Gower
  • caminhar na ponta dos pés
  • hipotonia
  • hiperatividade
  • incontinência urinária e intestinal
  • retardo mental leve a grave

Fatores de risco

  • história familiar de DMD
  • sexo masculino

Investigações diagnósticas

Algoritmo de tratamento

Colaboradores

Consultant Paediatric Neurologist

Great Ormond Street Hospital for Children

London

UK

Declarações

PM received education and travel grants from PTC therapeutics in 2016 for a conference. He is principal investigator for the SIDEROS trial for idebenone in Duchenne muscular dystrophy sponsored by Santhera Pharmaceuticals. He lectured on muscular dystrophies at the Practical Neurology study days in 2017 and 2018.

Dr Pinki Munot would like to gratefully acknowledge Dr John R. Bach, Dr Aravindhan Veerapandiyan, and Dr Bilal Saulat, previous contributors to this topic. JRB, AV, and BS declare that they have no competing interests.

RevisoresVER TUDO

Assistant Professor of Medicine

Department of Medicine/Neurology

Duke University Medical Center

Durham

NC

Declarações

LDH-W declares that she has no competing interests.

Associate Professor Neurology and Regenerative Medicine

Wake Forest University Health Sciences

Winston-Salem

NC

Declarações

MKC declares that he has no competing interests.

Consultant Paediatric Neurologist

Great Ormond Street Hospital for Children NHS Trust

London

UK

Declarações

AM has been paid an honorarium for giving lectures at the Imperial College Educative Training Courses for GPs and post-graduate doctors. AM is the lead author of the Cochrane review of corticosteroids in Duchenne muscular dystrophy. He is also the Lead Clinician of the NorthStar Clinical Network for Management of Neuromuscular Disorders in the UK.

Senior Lecturer and Consultant Neurologist

Department of Clinical Neuroscience

UCL Institute of Neurology

London

UK

Declarações

RWO is an author of a reference cited in this topic.

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