CLN6 disease

What it is

A rare neuronal ceroid lipofuscinosis characterized by developmental and motor regression, seizures, ataxia, intellectual disability, delayed global development, speech and language, spasticity, and hypotonia. Visual impairment is not always present. It may present with late infantile (5-7 years), juvenile (4-8 years) or adult-onset (30 years). Progressive myoclonus epilepsy, with myoclonic and tonic-clonic seizures, limb weakness, dysarthria are mainly associated with the adult-onset form of the disease and these patients commonly have photosensitivity (sometimes extreme) whereas vision loss is infrequent.

Key facts

Prevalence

<1 / 1 000 000

Age of onset

Infancy

Inheritance

Autosomal recessive

Classified as

Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Genes reported in subtypes

Orphanet records this gene on 3 more specific entries under this disorder, not on this entry itself:

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

ICD-10 codes

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references