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Muscular Dystrophy

George G.A. Pujalte, FACSM, FAMSSM, FAAFP, MD and Mantavya Punj, M.D. Reviewed 06/2022
 


BASICS

  • Primary inherited myopathies caused by dysfunctional proteins of muscle fibers and extracellular matrix

  • Distribution of weakness, other associated symptoms, and disease prognosis depend on speci...

DIAGNOSIS

HISTORY

  • DMD: normal attainment of early motor milestones with subsequent abnormal gait and slowing gross motor development: clumsiness, waddling gait, frequent falls, difficulty running, or c...

TREATMENT

Glucocorticoid treatment is the only available therapy that affects disease progression. Novel drugs that affect gene expression are now available but clinical benefit unclear. 

GENERAL MEASURES

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

Patient Monitoring

  • Electrocardiogram (ECG), echocardiogram, and consultation with a cardiologist at diagnosis and annually after age 10 years

    • Female carriers of DMD...

REFERENCES

1
Chung  J, Smith  AL, Hughes  SC, et al. Twenty-year follow-up of newborn screening for patients with muscular dystrophy. Muscle Nerve.  2016; 53(4): 570– 578. ...

CODES

ICD10

  • G71.0 Muscular dystrophy

  • G71.11 Myotonic muscular dystrophy

  • G71.2 Congenital myopathies

  • G71.8 Other primary disorders of muscles

SNOMED

  • 73297009 muscular dystrophy (disorder)

  • 76670001 Duchenne mu...

CLINICAL PEARLS

  • Primary care providers should have a low threshold to obtain serum CK as a screening test in the face of gross motor delay/muscular weakness, especially in boys.

  • Steroids should be init...

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