Category: Deafblindness
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PHARC - a rare syndrome
PHARC is a very rare syndrome caused by a mutation in the ABHD12 gene. PHARC involves combined visual and hearing impairment/deafblindness, polyneuropathy and cellular ataxia. Read more about what PHARC is, prevalence, treatment and support.
Deafblindness, Nordic definition revised
The Nordic definition of deafblindness was adopted at the Nordic Leadership Forum in June 2024. You can read about the definition here.
Deafblindness
Døvblindhet er en betegnelse på kombinert syns- og hørselshemming hvor sansetapene gjensidig forsterker hverandre. Døvblindhet betraktes som en egen funksjonshemming. Med døvblind menes en person som har en så stor grad av kombinert syns- og hørselsnedsettelse at det gir betydelige vanskeligheter i dagliglivet.
Usher syndrome, types and inheritance
Usher syndrome is a rare inherited genetic disorder that leads to combined visual and hearing impairment/deafblindness. Usher syndrome is the most common single cause of deafblindness in people under the age of 65. 50% of all deafblind people under the age of 65 have Usher syndrome. Usher syndrome is not linked to other neurological conditions, only visual and hearing impairment.
Usher syndrome and unreported cases in Norway
Usher syndrom er det vanligste syndromet som fører til døvblindhet, og 50% av alle døvblinde under 65 år har Usher syndrom (Castiglione & Möller, 2022, s. 42). Diagnosen Usher syndrom kan settes på bakgrunn av klinisk funn, eller en genetisk test.