Juvenile primary lateral sclerosis

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Juvenile primary lateral sclerosis

ORPHA:247604Disease

Also called JPLS · Juvenile PLS

What it is

A very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production.

Key facts

Prevalence
<1 / 1 000 000 (Europe)
Age of onset
Childhood
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.

Genes

ALS2Disease-causing germline mutation(s)
ERLIN2Disease-causing germline mutation(s) (loss of function)

ICD-10 codes

G12.2filed under a broader ICD-10 category — shared with 25 other rare diseases

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.

Benefit programs to look at

Programs whose eligibility touches the same ICD-10 categories. Eligibility is decided by the administering agency, never by this page.

Cross-references

GARD 4485MESH C536416MONDO 0011663OMIM 606353UMLS C1853396

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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