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
- deficiência intelectual leve a grave
Fatores de risco
- história familiar de DMD
- sexo masculino
Investigações diagnósticas
Primeiras investigações a serem solicitadas
- creatina quinase (CK) sérica
- teste genético
Investigações a serem consideradas
- eletromiografia (EMG)
- biópsia muscular
Algoritmo de tratamento
estágio 1: marcha preservada
estágio 2: não deambulante
estágio 3: suporte ventilatório
Colaboradores
Autores
Pinki Munot, MD
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.
Agradecimentos
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.
Revisores
Lisa D. Hobson-Webb, MD
Assistant Professor of Medicine
Department of Medicine/Neurology
Duke University Medical Center
Durham
NC
Declarações
LDH-W declares that she has no competing interests.
Martin K. Childers, DO, PhD
Associate Professor Neurology and Regenerative Medicine
Wake Forest University Health Sciences
Winston-Salem
NC
Declarações
MKC declares that he has no competing interests.
Adnan Manzur, FRCPCH
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.
Richard W. Orrell, BSc, MD, FRCP
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.
Diagnósticos diferenciais
- Distrofia muscular de Becker (DMB)
- Distrofias musculares das cinturas escapular e pélvica (LGMDs)
- Distrofia muscular de Emery-Dreifuss
Mais Diagnósticos diferenciaisDiretrizes
- Clinical guidance in neuropalliative care: an AAN position statement
- Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan
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