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Granulocyte dysfunction and myotonic dystrophy.

W R Friedenberg, J J Marx, P Hansotia

    Journal of the Neurological Sciences
    |March 1, 1986
    PubMed
    Summary
    This summary is machine-generated.

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    Myotonic dystrophy (MD) patients frequently exhibit impaired granulocyte function, particularly chemotaxis. Severe immune defects are rare but can occur, necessitating granulocyte testing in infected MD patients.

    Area of Science:

    • Immunology
    • Genetics
    • Neurology

    Background:

    • Myotonic dystrophy (MD) is a multisystem disorder.
    • Infections are a common complication in MD patients.
    • Granulocyte dysfunction can increase infection susceptibility.

    Observation:

    • A 52-year-old male with MD presented with a lung abscess and cyclic neutropenia.
    • Granulocyte function tests revealed defects in phagocytosis, bactericidal activity, and chemotaxis.
    • Skin window studies confirmed in vivo granulocyte defects.

    Findings:

    • The patient's granulocyte defects improved with lithium carbonate treatment.
    • Four of his children with abnormal granulocyte function showed definite MD.
    • Twelve of 19 unrelated MD patients had impaired granulocyte function, primarily chemotaxis defects.

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    Implications:

    • Mild granulocyte dysfunction is common in MD, while severe dysfunction is rare.
    • A correlation may exist between MD severity and granulocyte dysfunction.
    • Granulocyte function testing is recommended for MD patients with infections.