maternally-inherited spastic paraplegia
Findings
No curated finding names maternally-inherited spastic paraplegia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, genetic, complex hereditary spastic paraplegia disorder characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination.
Definition from the Mondo Disease Ontology (MONDO:0017917), read 2026-09-29. CC BY 4.0.
Features
15 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.
- Impaired vibration sensation in the lower limbsHPOHP:0002166
- Very frequent (80% to 99% of cases)
- Lower limb painHPOHP:0012514
- Very frequent (80% to 99% of cases)
- Progressive spastic paraplegiaHPOHP:0007020
- Very frequent (80% to 99% of cases)
- Distal lower limb muscle weaknessHPOHP:0009053
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- HyperreflexiaHPOHP:0001347
- Frequent (30% to 79% of cases)
Show the remaining 3
- Diabetes mellitusHPOHP:0000819
- Occasional (5% to 29% of cases)
- Leg muscle stiffnessHPOHP:0008969
- Occasional (5% to 29% of cases)
- Supraventricular arrhythmiaHPOHP:0005115
- Occasional (5% to 29% 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.
- MT-ATP6HGNC:7414
- Supportive · Orphanet · Mitochondrial · 2021
Where it sits
Other names
2 names
Resolves to: maternally-inherited spastic paraplegia
- Also called
- maternally-inherited SPGMT-ATP6-related mitochondrial spastic paraplegia