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Excerpted from the GeneReview: Dystrophinopathies
The dystrophinopathies include a spectrum of muscle disease caused by pathogenic variants in DMD, which encodes the protein dystrophin. The mild end of the spectrum includes the phenotypes of asymptomatic increase in serum concentration of creatine phosphokinase (CK) and muscle cramps with myoglobinuria. The severe end of the spectrum includes progressive muscle diseases that are classified as Duchenne/Becker muscular dystrophy when skeletal muscle is primarily affected and as DMD-associated dilated cardiomyopathy (DCM) when the heart is primarily affected. Duchenne muscular dystrophy (DMD) usually presents in early childhood with delayed milestones, including delays in sitting and standing independently. Proximal weakness causes a waddling gait and difficulty climbing. DMD is rapidly progressive, with affected children being wheelchair dependent by age 13 years. Cardiomyopathy occurs in individuals with DMD after age 18 years. Few survive beyond the third decade, with respiratory complications and cardiomyopathy being common causes of death. Becker muscular dystrophy (BMD) is characterized by later-onset skeletal muscle weakness; some individuals remain ambulatory into their 20s. Despite the milder skeletal muscle involvement, heart failure from DCM is a common cause of morbidity and the most common cause of death in BMD. Mean age of death is in the mid-40s. DMD-associated DCM is characterized by left ventricular dilation and congestive heart failure. Females heterozygous for a DMD pathogenic variant are at increased risk for DCM.

Genes See tests for all associated and related genes

  • Also known as: BMD, CMD3B, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, MRX85, DMD
    Summary: dystrophin

Clinical features


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Practice guidelines

  • Orphanet, 2013
    Orphanet, Duchenne muscular dystrophy, 2013
  • CDC Respiratory Panel, 2010
    The respiratory management of patients with duchenne muscular dystrophy: a DMD care considerations working group specialty article.
  • CDC DMD Care Considerations Working Group, 2010
    Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care.
  • CDC DMD Care Considerations Working Group, 2010
    Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management.
  • DMD Management and Anesthesia - ACCP, 2007
    American College of Chest Physicians consensus statement on the respiratory and related management of patients with Duchenne muscular dystrophy undergoing anesthesia or sedation.
  • AAP, 2005
    Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy.
  • AAN/CNS, 2005
    Practice parameter: corticosteroid treatment of Duchenne dystrophy: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society.

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