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Muscular Dystrophy

Reviewed 06/2020
 


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 the s...

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 cl...

TREATMENT

Glucocorticoid treatment is the only available therapy that affects disease progression. Novel drugs that affect gene expression are now available; however, their clinical benefits have yet ...

ONGOING CARE

  • Individualized education plan and developmental evaluation for school accommodations

  • Maintenance of current influenza and pneumococcal vaccination status

FOLLOW-UP RECOMMENDATIONS

Patient Monitoring

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.
2
Bushby K, Finkel R, Birnkrant ...

ADDITIONAL READING

  • McDonald CM, Campbell C, Torricelli RE, et al. At a luren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomized, double-blind, placebo-...

CODES

ICD10

  • G71.0 Muscular dystrophy

  • G71.11 Myotonic muscular dystrophy

  • G71.2 Congenital myopathies

  • G71.8 Other primary disorders of muscles

ICD9

  • 359.1 Hereditary progressive muscular dystrophy

  • 359.22 Myoton...

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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