Small nerve fiber involvement is frequent in X-linked adrenoleukodystrophy.

[adrenomyeloneuropathy]

To investigate the presence of small nerve fiber dysfunction in subjects with X-linked adrenoleukodystrophy .Cross-sectional study in which 11 Norwegian subjects (3 males , 8 females ) with X-linked adrenoleukodystrophy , phenotypes ranging from asymptomatic to wheelchair-bound with adrenomyeloneuropathy , were investigated with neurophysiologic studies including EMG , nerve conduction velocities , quantitative sensory testing , tests of autonomic function , and skin biopsy for intraepidermal nerve fiber density measurements .We found small nerve fiber dysfunction in 10 of 11 subjects , increasing with age and more pronounced in males . Low intraepidermal nerve fiber densities were found in 5 of 11 subjects , indicating a loss of thin unmyelinated nerve fibers peripherally . Five of 11 subjects showed small nerve fiber dysfunction despite normal nerve fiber densities , suggesting possible involvement of the spinothalamic tracts . Two subjects showed moderate abnormalities in autonomic function tests .Evidence of small nerve fiber dysfunction was widespread in this cohort of subjects with X-linked adrenoleukodystrophy , with findings indicating loss of peripheral small nerve fibers and possibly also fibers of the spinothalamic tracts . The results support the theory of primary axonal degeneration in adrenomyeloneuropathy . Evidence of nervous system involvement was found in all heterozygotes , with severity increasing with age . Clinicians caring for these patients should be alert to signs of small nerve fiber involvement .

Diseases
Validation

Diseases presenting "small nerve fiber dysfunction in subjects" symptom

adrenomyeloneuropathy

x-linked adrenoleukodystrophy

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