Peripheral nerve conduction in Fabry disease.

Abstract

Peripheral nerve conduction was studied in 34 members, aged 3 to 54 years, from three separate kindreds with Fabry disease. Nerve conduction velocity was prolonged in one-third (11 of 34) of the study group. Of the 9 control family members with normal plasma alpha-galactosidase levels, 8 had normal velocity. A 6-year-old girl with normal plasma and leukocyte alpha-galactosidase levels and absent corneal deposits had slightly lower than normal nerve conduction velocity. One of the 3 obligate female carriers and 1 of 10 suspected carriers of Fabry disease had prolonged conduction velocity but normal distal latency. On the other hand, 8 of 12 males affected with Fabry disease demonstrated slow nerve conduction velocity while 4 of the 8 had prolonged distal latency. Frequently, only one of the two nerves studied showed abnormalities. These abnormalities were not related to patient age. Interfamilial variations in the abnormalities were present.