Peripheral Neuropathy, Autosomal Recessive, with or without Impaired Intellectual Development
Autozomálně recesivní
Caused by changes in both copies of MCM3AP, which encodes GANP, a factor that exports messenger RNA from the nucleus.
Příznaky a projevy
Early-onset weakness and wasting of the lower legs and hands, with foot deformities and walking difficulties, typical of Charcot-Marie-Tooth disease. Some people have intellectual disability or developmental delay.
Co se diagnózou změní
Physiotherapy, orthotics and orthopaedic care support mobility, with developmental support where needed. Both parents are usually carriers, so genetic counselling and carrier testing for relatives are offered.
Analyzované geny
Známé také jako
PNRIID
