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Related Experiment Videos

Progressive myopathy in trisomy 21.

U Mielke1, K Schimrigk, H Edlinger

  • 1Department of Neurology, University of the Saarland, Homburg/Saar, FRG.

Neuropediatrics
|August 1, 1988
PubMed
Summary
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A rare progressive myopathy developed in a patient with Down syndrome, causing increasing muscle weakness. This association between sporadic myopathy and Down syndrome is previously undocumented in medical literature.

Area of Science:

  • Neurology
  • Genetics
  • Muscle Diseases

Background:

  • Down syndrome (Trisomy 21) is a genetic disorder typically associated with intellectual disability and distinct facial features.
  • While various health complications are known in Down syndrome, progressive myopathies are not commonly reported.
  • This case highlights a potential, under-recognized neuromuscular complication in individuals with Down syndrome.

Observation:

  • A 23-year-old female with typical Down syndrome presented with progressive proximal muscle weakness starting at age 16.
  • Clinical examination revealed significant muscle weakness.
  • Laboratory tests showed elevated creatine kinase (CK) levels, indicating muscle damage.

Findings:

  • Electromyography (EMG) results demonstrated myogenic lesions, suggesting a primary muscle disorder.

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  • Muscle biopsy revealed a myopathic pattern characterized by extensive muscle fiber hypertrophy.
  • These findings collectively point towards a diagnosis of progressive myopathy.

    • Implications:

    • This case represents the first reported instance of progressive sporadic myopathy occurring in conjunction with Down syndrome.
    • It suggests that individuals with Down syndrome may be susceptible to developing specific types of myopathies.
    • Further research is warranted to explore the potential link between Trisomy 21 and the pathogenesis of myopathies, and to establish diagnostic and management guidelines.