Autosomal Dominant Cerebellar Ataxia, Deafness and Narcolepsy
Autozomálně dominantní
An adult-onset disorder caused by DNMT1 variants, with cerebellar ataxia, sensorineural hearing loss, narcolepsy with cataplexy and later dementia.
Co se diagnózou změní
Sleep, hearing and neurological assessment, with symptom treatment for narcolepsy and hearing loss, and genetic counselling for relatives.
Analyzované geny
Známé také jako
ADCA-DN; ADCA-DN syndrome; ADCADN; autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
