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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 314404
A rare polymorphic disorder, subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.
ADCA-DN has been reported in 24 patients to date from Sweden, the United States, Italy and Brazil.
Disease onset occurs in adulthood (from the ages of 30-40) with the onset of cerebellar ataxia, narcolepsy with cataplexy, sensorineural deafness and dementia. Optic atrophy, cataracts, psychosis, depression, sensory neuropathy, pseudobulbar signs, incontinence and limb lymphedema have also been reported but present later in the disease course. Mild brain atrophy with cerebellum involvement is visible with magnetic resonance imaging (MRI).
ADCA-DN is caused by a mutation in the DNA methyltransferase ( DNMT1 ) gene located on chromosome 19p13.2. It encodes an enzyme essential for the repression of transcriptional activity in numerous postmitotic cells.
ADCA-DN is inherited autosomal dominantly and genetic counseling is possible. Sporadic cases have also been reported.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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