Autosomal dominant cerebellar ataxia, deafness, and narcolepsy
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Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 314404
Definition
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.
Epidemiology
ADCA-DN has been reported in 24 patients to date from Sweden, the United States, Italy and Brazil.
Clinical description
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).
Etiology
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.
Genetic counseling
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
Symptoms
Symptoms and their Known Frequencies
North Kingstown, RI, 02852 , United States Phone: +1-401-667-2523 Toll Free: +1-888-292-6522 Fax : +1-401-633-6567 Email: NarNet@narcolepsynetwork.org Url: http://www.narcolepsynetwork.org Name: Wake Up Narcolepsy, Inc. PO Box 60293
Worcester, MA, 01606, Phone: +1-978-751-DOZE (3693) Email: info@wakeupnarcolepsy.org Url: http://www.wakeupnarcolepsy.org/ Name: HSAN1E Society PO Box 1264
Tracy, CA, 95378, Email: info@hsan1esociety.org Url: https://hsan1esociety.org/
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