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[McArdle's disease: a case report].

J A Levy, S M Gagioti, M J Cavalieri

    Arquivos De Neuro-Psiquiatria
    |December 1, 1980
    PubMed
    Summary

    McArdle's disease is an inherited muscle disorder causing glycogen buildup and weakness. Diagnosis involves exercise testing and muscle biopsy to confirm myophosphorylase deficiency.

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    Area of Science:

    • Biochemistry
    • Genetics
    • Neurology

    Background:

    • McArdle's disease, an inherited autosomal recessive condition, results from absent myophosphorylase activity in skeletal muscles.
    • This leads to abnormal glycogen storage within muscle cells, impacting energy metabolism.

    Observation:

    • Patients experience excessive fatigability, muscle cramps, and myoglobinuria after physical exertion.
    • A case report details a 36-year-old male patient presenting with these characteristic symptoms.

    Findings:

    • Diagnosis was confirmed by the lack of venous blood lactate elevation post-exercise under anaerobic conditions.
    • Muscle histochemistry further supported the diagnosis of McArdle's disease.

    Implications:

    • Understanding McArdle's disease aids in differentiating it from other myoglobinuria causes.
    • Accurate diagnosis is crucial for managing symptoms and patient care in glycogen storage diseases.

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