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Multicore disease

H Isaacs, M Badenhorst

    South African Medical Journal = Suid-Afrikaanse Tydskrif Vir Geneeskunde
    |April 5, 1980
    PubMed
    Summary
    This summary is machine-generated.

    Multicore disease, a rare adult condition, presents a poorer prognosis than in infancy. This neuromuscular disorder is best diagnosed via oxidative enzyme staining, revealing a loss of type 1 motor neurons.

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    Area of Science:

    • Neurology
    • Muscle Diseases

    Background:

    • Multicore disease is a rare congenital myopathy.
    • Adult presentations are infrequent, making diagnosis challenging.

    Observation:

    • Two adult cases of multicore disease are presented.
    • Serum enzyme levels were confirmed to be normal in affected individuals.

    Findings:

    • Oxidative enzyme staining is crucial for diagnosing multicore disease.
    • A significant reduction in type 2 muscle fibers occurs by adulthood due to the loss of type 1 motor neurons.

    Implications:

    • Adult-onset multicore disease may have a more severe prognosis than infantile forms.
    • The observed fiber type changes resemble those seen in central core disease and nemaline rod disease, suggesting sharedPathophysiological mechanisms.