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Related Experiment Videos

Sarcoid myopathy presenting with diaphragm weakness

R G Dewberry1, B F Schneider, W F Cale

  • 1Department of Neurology, University of Virginia Health Sciences Center, Charlottesville 22908.

Muscle & Nerve
|August 1, 1993
PubMed
Summary

Muscle sarcoidosis is often asymptomatic but can mimic other neuromuscular disorders. This case highlights how sarcoidosis can present with symptoms and electromyographic findings similar to adult-onset acid maltase deficiency.

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Area of Science:

  • Neurology
  • Rheumatology
  • Pathology

Background:

  • Muscle involvement in sarcoidosis is common but typically asymptomatic.
  • Distinguishing symptomatic muscular sarcoidosis from other myopathies is clinically challenging.

Observation:

  • A 63-year-old woman presented with diaphragm weakness.
  • Electromyography showed widespread myotonia and an inflammatory myopathic process.
  • Muscle biopsy revealed noncaseating granulomas, confirming sarcoidosis.

Findings:

  • The patient's presentation mimicked adult-onset acid maltase deficiency (Pompe disease).
  • Clinical symptoms and electromyographic results were consistent with this mimicry.
  • Treatment with oral prednisone led to clinical improvement.

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Implications:

  • Symptomatic muscular sarcoidosis can present with features overlapping those of adult-onset acid maltase deficiency.
  • This case underscores the importance of considering sarcoidosis in the differential diagnosis of inflammatory myopathies.
  • Early diagnosis and treatment of muscular sarcoidosis can lead to improved patient outcomes.