hereditary spastic paraplegia 73
Findings
No curated finding names hereditary spastic paraplegia 73 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal dominant spastic paraplegia type 73 (SPG73) is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies.
Definition from the Mondo Disease Ontology (MONDO:0014568), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset · Slowly progressive
HPO, annotations 2026-09-02
Features
22 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.
- Babinski signHPOHP:0003487
- 6 of 6 reported patients
- Very frequent (80% to 99% of cases)
- Gait disturbanceHPOHP:0001288
- 6 of 6 reported patients
- Frequent (30% to 79% of cases)
- HyperreflexiaHPOHP:0001347
- 6 of 6 reported patients
- Very frequent (80% to 99% of cases)
- Impaired distal vibration sensationHPOHP:0006886
- 6 of 6 reported patients
- Prolonged central motor conduction timeHPOHP:0034399
- 6 of 6 reported patients
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.
- CPT1CHGNC:18540
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal dominant · 2023
- Limited · LiferaOmics · Autosomal recessive · 2026
Where it sits
- A kind of
Other names
5 names
Resolves to: hereditary spastic paraplegia 73
- Also called
- autosomal dominant pure spastic paraplegia caused by mutation in CPT1Cautosomal dominant spastic paraplegia type 73CPT1C autosomal dominant pure spastic paraplegiahereditary spastic paraplegia type 73SPG73