Skip to main content

Muscular Dystrophy

Nimmy Thakolkaran, MD and George G.A. Pujalte, MD, FACSM Reviewed 06/2019
 


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 c...

TREATMENT

Trials of agents that affect gene expression, such as antisense oligonucleotides, and small molecules that cause skipping of premature stop codons (ataluren) are ongoing; however, steroid tr...

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. [View Abstract on OvidMedline]
...

ADDITIONAL READING

  • Manzur AY, Kuntzer T, Pike M, et al. Glucocorticoid corticosteroids for Duchenne muscular dystrophy. Cochrane Database Syst Rev.  2008;(1):CD003725. [View Abstract on OvidMedli...

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...

Subscribe to Access Full Content

Sign Up for a 10-Day Free Trial

Sign up for a 10-day FREE Trial now and receive full access to all content.

×