autosomal recessive spastic paraplegia type 76
Findings
No curated finding names autosomal recessive spastic paraplegia type 76 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration.
Definition from the Mondo Disease Ontology (MONDO:0014827), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
31 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.
- Appendicular spasticityHPOHP:0034353
- 1 of 1 reported patient
- Cerebellar atrophyHPOHP:0001272
- 1 of 1 reported patient
- Cerebellar vermis atrophyHPOHP:0006855
- 1 of 1 reported patient
- Gait imbalanceHPOHP:0002141
- 6 of 6 reported patients
- Limb ataxiaHPOHP:0002070
- 3 of 3 reported patients
- Occasional (5% to 29% of cases)
- Lower limb hyperreflexiaHPO
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.
- CAPN1HGNC:1476
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
Other names
5 names
Resolves to: autosomal recessive spastic paraplegia type 76
- Also called
- autosomal recessive complex spastic paraplegia caused by mutation in CAPN1CAPN1 autosomal recessive complex spastic paraplegiahereditary spastic paraplegia type 76spastic paraplegia 76, autosomal recessiveSPG76