Muscular
Dystrophy

Muscle Weakness Abnormal Gait or Difficulty Walking Elevated Creatine Kinase Respiratory Insufficiency Difficulty Swallowing Exercise Intolerance
Duchenne
Muscular Dystrophy
1.7-8.2 per 100,000
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Pompe disease
2.5 per 100,000
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Overview

  • Muscular dystrophy (MD) is a blanket term that describes a group of diseases characterized by progressive muscle degeneration, weakness (myopathy) and atrophy
  • There are several different MDs including some that may have overlapping signs and symptoms with Pompe disease, such as:
    • Duchenne MD (DMD): X-linked MD caused by a defect in the dystrophin gene
    • Becker MD (BMD): X-linked MD caused by a defect in the same gene as DMD, but patients with BMD often have partial production of dystrophin, thus symptoms usually occur later and are milder than those associated with DMD
      • Both of these MDs are typically seen in boys, but girls can be carriers as well
  • Muscular dystrophies differ from myopathies in that the MDs appear to be characterized by degenerative atrophy and progressive weakness while the myopathies are not

Signs and Symptoms

  • Some forms of muscular dystrophy may present with progressive proximal muscle weakness, creatine kinase elevation, impaired respiratory function, and walking difficulties which may overlap with the clinical presentation of late-onset Pompe disease
  • Each muscular dystrophy varies in its pattern of inheritance, onset age, severity, and groups of muscles affected
  • While Pompe disease can occur at any stage of life, symptoms of DMD usually appear by 2-3 years of age and BMD usually begin in the late teens or in the 2nd decade of life or later

Diagnosis

  • Like Pompe disease, genetic testing is available for many forms of muscular dystrophy (Duchenne and Becker, for example)
  • Creatine kinase levels, electromyography, and muscle biopsies may be obtained, as is the case with Pompe disease

The information presented is intended as a brief overview. It is not an exhaustive summary of muscular dystrophy. For more information on MDs, visit:
https://www.ninds.nih.gov/Disorders/All-Disorders/Muscular-Dystrophy-Information-Page

For more information on the diagnosis of Pompe disease, visit Diagnosis of Infantile-Onset Pompe Disease and Diagnosis of Late-Onset Pompe Disease