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Condition report · Neurological

DNMT1-Related Ataxia, Deafness and Narcolepsy

A rare inherited neurodegenerative condition caused by changes in the DNMT1 gene. It typically begins in adulthood with unsteadiness, hearing loss and narcolepsy with cataplexy, and can later lead to cognitive decline.

A condition report looks for rare variants known to cause the conditions it covers.

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The condition we analyse

Autosomal Dominant Cerebellar Ataxia, Deafness and Narcolepsy

Autosomal dominant

An adult-onset disorder caused by DNMT1 variants, with cerebellar ataxia, sensorineural hearing loss, narcolepsy with cataplexy and later dementia.

What a diagnosis changes

Sleep, hearing and neurological assessment, with symptom treatment for narcolepsy and hearing loss, and genetic counselling for relatives.

Genes analysed

Also known as

ADCA-DN; ADCA-DN syndrome; ADCADN; autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome

MONDO:0011397OMIM 604121Orphanet 314404MedGen 928337

Other neurological conditions

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