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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).
Disorder

Definisjon

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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Ekstern informasjon

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