Autosomal Dominant Cerebellar Ataxia, Deafness and Narcolepsy
Autoszomális domináns
An adult-onset disorder caused by DNMT1 variants, with cerebellar ataxia, sensorineural hearing loss, narcolepsy with cataplexy and later dementia.
Mit változtat a diagnózis
Sleep, hearing and neurological assessment, with symptom treatment for narcolepsy and hearing loss, and genetic counselling for relatives.
Vizsgált gének
Más néven
ADCA-DN; ADCA-DN syndrome; ADCADN; autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
