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[McArdle's disease (a familial case)].
Zhurnal Nevropatologii I Psikhiatrii Imeni S.S. Korsakova (Moscow, Russia : 1952)
|January 1, 1976
Summary
McArdle's disease, a metabolic myopathy, presents in a mother and son with muscle cramps and fatigue. Their condition involves glycogen buildup in muscles and pancreatic dysfunction.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- McArdle's disease is a glycogen storage disease affecting muscle energy metabolism.
- It is caused by a deficiency in muscle glycogen phosphorylase.
- This leads to exercise intolerance and muscle pain.
Observation:
- A family case study involving a 48-year-old mother and her 15-year-old son with McArdle's disease.
- Symptoms included exercise-induced muscle cramps, pain, fatigue, and muscle enlargement.
- Histochemical analysis revealed pathological glycogen accumulation in muscle tissue.
Findings:
- Blood lactic and pyruvic acid levels remained unchanged post-ischemic exercise.
- Hyperinsulinemia and pancreatic dysfunction were observed during glucose loading tests.
- These findings suggest impaired glycogenolysis and altered glucose-insulin regulation.
Implications:
- Highlights the clinical spectrum and diagnostic challenges of McArdle's disease.
- Suggests potential links between muscle glycogen metabolism and pancreatic function.
- Emphasizes the importance of comprehensive metabolic evaluation in patients with myopathies.