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Muscular dystrophies

Última revisión: 15 Sep 2025
Última actualización: 29 Jul 2025

Resumen

Definición

Anamnesis y examen

Principales factores de diagnóstico

  • family history of DMD
  • male sex
  • imbalance of lower limb strength
  • lower extremity musculotendinous contractures
  • delayed motor milestones
  • calf hypertrophy
  • ambulation difficulty and falls
  • diminished muscle tone and deep tendon reflexes
  • normal sensation
  • Gowers sign
Todos los datos

Otros factores de diagnóstico

  • toe walking
  • hypotonia
  • hyperactivity
  • urinary and bowel incontinence
  • mild to severe intellectual disability
Todos los datos

Factores de riesgo

  • family history
  • male sex
Todos los datos

Pruebas diagnósticas

Primeras pruebas diagnósticas para solicitar

  • serum creatine kinase (CK)
  • genetic testing
Todos los datos

Pruebas diagnósticas que deben considerarse

  • electromyogram (EMG)
  • muscle biopsy
  • muscle MRI
Todos los datos

Algoritmo de tratamiento

Agudo

DMD: ambulatory stage

DMD: early nonambulatory stage

DMD: late nonambulatory stage

spinal muscular atrophy (SMA)

Colaboradores

Autores

Pinki Munot, MD

Consultant Paediatric Neurologist

Great Ormond Street Hospital for Children

London

UK

Declarações

PM is a principal investigator for the Sideros trial in DMD and the ARGNX trial in Myasthenia, and a sub-investigator for the SHINE trial. PM was reimbursed for presenting at the PULSE 65 rare disease day for GPs in December 2023 and for the RCPCH 2022 lunch time symposium by PTC therapeutics.

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.

Declarações

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.

Créditos aos pareceristas

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Declarações

As afiliações e declarações dos pareceristas referem--se ao momento da revisão.

Referências

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Principais artigos

Birnkrant DJ, Bushby K, Bann CM, et al; DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol. 2018 Mar;17(3):251-67.Texto completo  Resumo

Birnkrant DJ, Bushby K, Bann CM, et al; DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. Lancet Neurol. 2018 Apr;17(4):347-61.Texto completo  Resumo

Birnkrant DJ, Bushby K, Bann CM, et al; DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan. Lancet Neurol. 2018 May;17(5):445-55.Texto completo  Resumo

Feingold B, Mahle WT, Auerbach S, et al. Management of cardiac involvement associated with neuromuscular diseases: a scientific statement from the American Heart Association. Circulation. 2017 Sep 26;136(13):e200-31.Texto completo  Resumo

Gloss D, Moxley RT 3rd, Ashwal S, et al. Practice guideline update summary: corticosteroid treatment of Duchenne muscular dystrophy: report of the Guideline Development Subcommittee of the American Academy of Neurology. Neurology. 2016 Feb 2;86(5):465-72.Texto completo  Resumo

Artigos de referência

Uma lista completa das fontes referenciadas neste tópico está disponível para os usuários com acesso total ao BMJ Best Practice.
  • Muscular dystrophies images
  • Diagnósticos diferenciais

    • Polymyositis
    • Static encephalopathies (cerebral palsy)
    Mais Diagnósticos diferenciais
  • Diretrizes

    • Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management
    • Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management
    Mais Diretrizes
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