CLN10 disease

What it is

A rare neuronal ceroid lipofuscinosis characterized by motor, cognitive and developmental regression with speech impairment, ataxia, limb weakness, visual impairment (notably retinitis pigmentosa), dysarthria and prosopagnosia. It may present with congenital (the most commonly observed form of the disease), late infantile (3 years) and juvenile-onset (4-8 years), and later stages into adulthood. Congenital form is associated with immediate postnatal onset of epileptic seizures, respiratory failure and limb hypertonia. Neonates have microcephaly with severe atrophy of the cerebrum and cerebellum with myelin deficiency, and retinal dysfunction.

Key facts

Prevalence

<1 / 1 000 000

Age of onset

Adult, Antenatal, 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