Skip to Main Content

For further information, see CMDT Part 24-35: Myopathic Disorders

Key Features

  • Inherited myopathic disorders are subdivided by

    • Mode of inheritance

    • Age at onset

    • Clinical features (Table 24–9)

  • Duchenne muscular dystrophy

    • Due to a genetic defect on the short arm of the X chromosome

    • Affected gene codes for the protein dystrophin, which is almost absent from diseased muscles

    • Genetic defect is detectable in pregnancy

  • Becker muscular dystrophy

    • Dystrophin levels are generally normal

    • Protein is qualitatively altered

Table 24–9.Selected muscular dystrophies.1

Clinical Findings

  • Muscle weakness, often in a characteristic distribution

  • Age at onset and inheritance pattern depend on specific dystrophy

  • Duchenne dystrophy

    • Pseudohypertrophy of muscles

    • Intellectual disability

    • Skeletal deformities, muscle contractures, and cardiac involvement

Diagnosis

  • Genetic testing

  • Muscle biopsy needed occasionally

Treatment

  • Eteplirsen

    • Approved to treat Duchenne muscular dystrophy caused by specific loss-of-function mutations in the DMD gene coding for dystrophin

    • Treated patients had more functional dystrophin on muscle biopsy than controls and a slower rate of disease progression than matched historical controls

  • Prednisone (0.75 mg/kg orally daily or 10 mg/kg orally given weekly over 2 days) or deflazocort (0.9 mg/kg orally daily) compared to placebo

    • Improves muscle strength and function in boys with Duchenne dystrophy

    • However, side effects need to be monitored

    • Although both medications cause similar side effects, weight gain at 1 year is less with deflazacort

  • Important to encourage patients to lead as normal lives as possible

  • Prolonged bed rest must be avoided; inactivity often leads to worsening of ...

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.