juvenile primary lateral sclerosis
Findings
No curated finding names juvenile primary lateral sclerosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Juvenile primary lateral sclerosis (JPLS) 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.
Definition from the Mondo Disease Ontology (MONDO:0011663), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
20 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Appendicular spasticityHPOHP:0034353
- 3 of 3 reported patients
- Babinski signHPOHP:0003487
- 3 of 3 reported patients
- HyperreflexiaHPOHP:0001347
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Pseudobulbar paralysisHPOHP:0007024
- 3 of 3 reported patients
- Spastic tetraparesisHPOHP:0001285
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Abnormal pyramidal signHPOHP:0007256
- Very frequent (80% to 99% of cases)
Show the remaining 8
- Loss of ambulationHPOHP:0002505
- 2 of 3 reported patients
- DysphagiaHPOHP:0002015
- Frequent (30% to 79% of cases)
- Loss of speechHPOHP:0002371
- Frequent (30% to 79% of cases)
- Spastic dysarthriaHPOHP:0002464
- Frequent (30% to 79% of cases)
- Abnormality of the bladderHPOHP:0000014
- Occasional (5% to 29% of cases)
- Sensory neuropathyHPOHP:0000763
- Occasional (5% to 29% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
Other names
2 names
Resolves to: juvenile primary lateral sclerosis
- Also called
- JPLSjuvenile PLS