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CLN1 sykdom

Engelsk navn: CLN1 disease Engelske synonym: Neuronal ceroid lipofuscinosis type 1,NCL1
ORPHA-kode 228329
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 developmental delay, psychomotor regression, hypotonia, seizures, ataxia, movement disorders and visual impairment. It may present classically with infantile-onset (6-18 months) however late infantile (18 months-4 years), juvenile (4 years-early adolescence) or adult-onset (mid 20s-mid 30s) have also been described. Disease progression is rapid in both infantile/late infantile onset patients, manifesting with progressive and rapid loss of speech, early cognitive and motor decline, impaired gait function, myoclonus, vision loss (observed bit later in late infantile form) and brain atrophy. Infantile form is characterized by a short lifespan preceeded by a relatively long steady progression following the rapid decline. Disease progression is slow in juvenile-onset and protracted in adult-onset patients. Psychosis in juvenile-onset patients, depression and parkinsonism in adult-onset patients are reported in addition to the common clinical symptoms.
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Mer om diagnosen

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Ekstern informasjon

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