Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome

What it is

A rare neurodegenerative disease characterized by severe developmental delay (notably speech delay), progressive psychomotor and cognitive regression (associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridemia and muscular hypertrophy), and mild to severe intellectual disability. Patients present with gait ataxia, spasticity, tretraplegia or tetraparesis, loss of language, tremors as well as early-onset subtle myoclonic seizures that develops into refractory tonic-clonic seizures and other forms of epilepsy as the disease progress.

Key facts

Prevalence

<1 / 1 000 000

Age of onset

Infancy, Neonatal

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.

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Gene

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