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Multicore disease in twins

R Heffner, M Cohen, P Duffner

    Journal of Neurology, Neurosurgery, and Psychiatry
    |June 1, 1976
    PubMed
    Summary
    This summary is machine-generated.

    Multicore disease, a neuromuscular disorder, caused delayed motor skills in infant identical twins. Muscle biopsies revealed reduced oxidative enzyme activity and structural damage, but strength improved by age six.

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    Area of Science:

    • Neuromuscular disorders
    • Pediatric neurology
    • Muscle pathology

    Background:

    • Multicore disease is a congenital myopathy.
    • Early diagnosis and understanding of its progression are crucial for pediatric patients.
    • Identical twins provide a unique model for studying genetic influences on disease presentation.

    Observation:

    • Identical twin boys presented with generalized weakness and torticollis in infancy.
    • Delayed motor milestones including sitting, standing, and running were noted.
    • Significant improvement in muscle strength was observed by age six.

    Findings:

    • Serum enzyme levels were normal, ruling out common indicators of muscle damage.
    • Muscle biopsy showed multifocal areas with decreased oxidative enzyme activity.

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  • Ultrastructural analysis revealed myofilament disruption and Z-band streaming in affected muscle areas.

    • Implications:

    • These findings highlight the variable clinical course of multicore disease.
    • Understanding the ultrastructural pathology aids in diagnosing and classifying congenital myopathies.
    • Further research into the genetic and molecular basis of multicore disease is warranted for potential therapeutic targets.