Muscle Weakness Abnormal Gait or Difficulty Walking Elevated Creatine Kinase Respiratory Insufficiency Difficulty Swallowing Exercise Intolerance
Muscular Dystrophy
1.7-8.2 per 100,000
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Pompe disease
2.5 per 100,000
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  • Muscular dystrophy (MD) is a term that describes a group of diseases characterized by progressive muscle weakness and loss of muscle mass
  • There are several types of MDs and some may have signs and symptoms that overlap with those of Pompe disease, such as:
    • Duchenne MD (DMD): an MD caused by an alteration in the dystrophin gene
    • Becker MD (BMD): an MD caused by an alteration in the same gene as DMD, but patients with BMD often have some production of dystrophin (a protein that helps keep muscle cells whole), 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 are different from myopathies in that the MDs appear to be characterized by atrophy and progressive weakness while the myopathies are not

Signs and Symptoms

  • Some forms of muscular dystrophy may have symptoms of progressive muscle weakness, increased levels of creatine kinase (an enzyme that may signal muscle damage), impaired breathing, and difficulty walking, symptoms that may overlap with late-onset Pompe disease
  • Each MD is different in its pattern of inheritance, age when symptom begin, severity of symptoms, 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 those of BMD usually begin in the late teens or in the 2nd decade of life or later


  • Like Pompe disease, genetic testing is available for many forms of muscular dystrophy (Duchenne and Becker, for example)
  • Creatine kinase levels, electromyography (a tool used to study the electrical activity of the muscles), and muscle biopsies may be obtained, similar to the diagnostic process for 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:

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