infantile-onset ascending hereditary spastic paralysis
Findings
No curated finding names infantile-onset ascending hereditary spastic paralysis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria.
Definition from the Mondo Disease Ontology (MONDO:0011797), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Progressive · Childhood onset
HPO, annotations 2026-09-02
Features
13 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.
- AnarthriaHPOHP:0002425
- 15 of 15 reported patients · Juvenile onset
- Very frequent (80% to 99% of cases)
- DysphagiaHPOHP:0002015
- 15 of 15 reported patients · Juvenile onset
- Muscle weaknessHPOHP:0001324
- 15 of 15 reported patients · Juvenile onset
- Spastic paraplegiaHPOHP:0001258
- 15 of 15 reported patients · Childhood onset
- Very frequent (80% to 99% of cases)
- Spastic tetraplegiaHPOHP:0002510
- 15 of 15 reported patients · Juvenile onset
- Very frequent (80% to 99% of cases)
- Abnormal pyramidal signHPOHP:0007256
Show the remaining 1
- Pseudobulbar affectHPOHP:0002193
- Frequent (30% to 79% of cases)
Genes
1 gene
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.
- ALS2HGNC:443
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: infantile-onset ascending hereditary spastic paralysis
- Also called
- IAHSP