CLN3 sykdom
Engelsk navn: CLN3 disease
Engelske synonym: Neuronal ceroid lipofuscinosis type 3
ORPHA-kode
228346
Klassifikasjon
Klassifisering
Orphanet sitt klassifiseringssystem har tre nivåer for å organisere de sjeldne diagnosene: Group (gruppe), disorder (diagnose) og subtype (undertype). DisorderDefinisjon
A rare neuronal ceroid lipofuscinosis characterized by juvenile or protracted juvenile-onset progressive vision loss due to retinal degeneration/retinopathy (which in several patients may precede the onset of neurological symptoms by some years), seizures, progressive cognitive impairment with a precipitous decline to dementia, progressive motor decline with cerebellar, pyramidal and extrapyramidal features. Associated systemic features may include cardiac abnormalities (including conduction abnormalities, ventricular hypertrophy, atrial flutter/fibrillation and symptomatic bradycardia) and autophagic vacuolar myopathy. Seizures in juvenile-onset (also known as the classic form of the disease) patients, develop typically within 2-4 years of the onset of visual deterioration. In protracted form, characterized by combined focal and generalized epilepsy syndrome and progressive neurologic deterioration, seizures and other neurological manifestations appear significantly later compared to classic form and symptoms are milder. This is the most common form of ceroid lipofuscinosis and is widespread across Western countries.
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Mer om diagnosen
Nasjonalt senter for sjeldne diagnoser, enhet Frambu har mer informasjon om diagnosen. KontaktEkstern informasjon
- orpha.net
Orphanet
Orphanet samler og forbedrer kunnskap om sjeldne sykdommer for å forbedre diagnostisering, omsorg og behandling av pasienter med sjeldne sykdommer. - helsebiblioteket.no
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