hereditary spastic paraplegia 74
Findings
No curated finding names hereditary spastic paraplegia 74 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported.
Definition from the Mondo Disease Ontology (MONDO:0014644), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
19 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.
- Peripheral axonal neuropathyHPOHP:0003477
- Very frequent (80% to 99% of cases)
- Progressive spastic paraplegiaHPOHP:0007020
- Very frequent (80% to 99% of cases)
- Decreased Achilles reflexHPOHP:0009072
- Frequent (30% to 79% of cases)
- Decreased activity of mitochondrial complex IHPOHP:0011923
- Frequent (30% to 79% of cases)
- Decreased activity of mitochondrial complex IIHPOHP:0008314
- 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.
- IBA57HGNC:27302
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
Where it sits
Other names
4 names
Resolves to: hereditary spastic paraplegia 74
- Also called
- hereditary spastic paraplegia caused by mutation in IBA57hereditary spastic paraplegia type 74IBA57 hereditary spastic paraplegiaSPG74