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Peripheral nerve conduction in Fabry disease.

K J Sheth, H M Swick

    Annals of Neurology
    |April 1, 1980
    PubMed
    Summary
    This summary is machine-generated.

    Peripheral nerve conduction abnormalities, including slow nerve conduction velocity, are present in Fabry disease patients. These findings highlight the neurological impact of Fabry disease across different age groups and sexes.

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    Area of Science:

    • Neurology
    • Genetics
    • Metabolic Disorders

    Background:

    • Fabry disease is a rare genetic disorder affecting the nervous system.
    • Peripheral nerve involvement is a known complication of Fabry disease.

    Purpose of the Study:

    • To investigate peripheral nerve conduction in individuals with Fabry disease.
    • To assess nerve conduction velocity and distal latency in affected individuals and carriers.

    Main Methods:

    • Nerve conduction studies were performed on 34 members from three Fabry disease kindreds.
    • Plasma and leukocyte alpha-galactosidase levels were assessed.
    • Corneal deposits were examined.

    Main Results:

    • One-third (11/34) of study participants showed prolonged nerve conduction velocity.

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  • Abnormalities were more frequent in affected males (8/12) than in females.
  • Some carriers also exhibited prolonged conduction velocity, though distal latency was often normal.

    • Conclusions:

    • Peripheral nerve conduction abnormalities are a significant feature of Fabry disease.
    • Nerve conduction studies can aid in diagnosing and understanding the neurological manifestations of Fabry disease.
    • Interfamilial variability in nerve abnormalities was observed.