Peripheral Neuropathy, Autosomal Recessive, with or without Impaired Intellectual Development
Autoszomális recesszív
Caused by changes in both copies of MCM3AP, which encodes GANP, a factor that exports messenger RNA from the nucleus.
Tünetek és jelek
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.
Mit változtat a diagnózis
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.
Vizsgált gének
Más néven
PNRIID
