Autozomálně dominantní · Only a small number of people have been reported.
Caused by a recurrent gain-of-function change in one copy of the ACOX1 gene (p.Asn237Ser), which increases the activity of a peroxisomal enzyme and leads to oxidative damage to the cells that make the protective coating of nerves. Changes can be de novo or inherited.
Příznaky a projevy
Episodes of weakness, loss of reflexes and numbness from a demyelinating peripheral neuropathy, typically beginning in childhood. Hearing loss is common, and brain MRI can show changes in the white matter. Less often there are vision problems or unsteady walking.
Co se diagnózou změní
Neurology follow-up, physiotherapy and hearing support, including hearing aids. Antioxidant treatment with N-acetylcysteine has helped some symptoms in individual cases, but there is no established specific treatment. Genetic counselling and parental testing help clarify recurrence risk.
Analyzované geny
Známé také jako
ACOX1 upregulation; MITCH
