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Polysaccharide storage myopathy.

A J Thompson1, M Swash, E L Cox

  • 1Department of Neurology, London Hospital, UK.

Muscle & Nerve
|April 1, 1988
PubMed
Summary
This summary is machine-generated.

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This study identifies a rare polysaccharide storage myopathy in an adult woman. The condition involves abnormal polysaccharide buildup in muscle fibers, distinct from typical glycogen storage diseases.

Area of Science:

  • Biochemistry
  • Neurology
  • Histopathology

Background:

  • Investigating rare myopathies with adult onset.
  • Understanding the pathogenesis of muscle fiber storage diseases.

Observation:

  • A patient presented with slowly progressive adult-onset proximal myopathy.
  • Muscle biopsy revealed type 1 fiber storage of Periodic Acid-Schiff (PAS) positive material.
  • Histochemical analysis identified this material as a branched chain polysaccharide linked to a mucoprotein.

Findings:

  • No enzymatic defects in the glycogen pathway were identified.
  • The polysaccharide accumulation is hypothesized to result from its deposition in a non-bioavailable form.
  • This suggests a novel mechanism of polysaccharide storage in muscle.

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Implications:

  • Polysaccharide storage myopathy is proposed as a distinct clinical and histochemical entity.
  • This condition shares similarities with glycogen storage myopathies, suggesting related pathways.
  • Further research is needed to elucidate the precise molecular mechanisms and therapeutic targets.