hereditary spastic paraplegia 45
Findings
No curated finding names hereditary spastic paraplegia 45 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported.
Definition from the Mondo Disease Ontology (MONDO:0013165), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
26 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.
- Ankle clonusHPOHP:0011448
- 2 of 2 reported patients
- Axial hypotoniaHPOHP:0008936
- 2 of 2 reported patients
- Babinski signHPOHP:0003487
- 10 of 10 reported patients
- Very frequent (80% to 99% of cases)
- Delayed speech and language developmentHPOHP:0000750
- 2 of 2 reported patients
- DysarthriaHPOHP:0001260
- 2 of 2 reported patients
- Global developmental delay
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.
- NT5C2HGNC:8022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
7 names
Resolves to: hereditary spastic paraplegia 45
- Also called
- autosomal recessive complex spastic paraplegia caused by mutation in NT5C2autosomal recessive spastic paraplegia type 45autosomal recessive spastic paraplegia type 65hereditary spastic paraplegia type 45NT5C2 autosomal recessive complex spastic paraplegiaSPG45SPG65