hereditary spastic paraplegia 77
Findings
No curated finding names hereditary spastic paraplegia 77 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated.
Definition from the Mondo Disease Ontology (MONDO:0014882), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Middle age onset · Slowly progressive · Young adult onset
HPO, annotations 2026-09-02
Features
40 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.
- Lower limb hyperreflexiaHPOHP:0002395
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Lower limb muscle weaknessHPOHP:0007340
- 4 of 4 reported patients
- Progressive spastic paraplegiaHPOHP:0007020
- Obligate (100% of cases)
- Spastic paraplegiaHPOHP:0001258
- 4 of 4 reported patients
- Babinski signHPOHP:0003487
- 1 of 3 reported patients
- 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.
- FARS2HGNC:21062
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
5 names
Resolves to: hereditary spastic paraplegia 77
- Also called
- FARS2 hereditary spastic paraplegiahereditary spastic paraplegia caused by mutation in FARS2hereditary spastic paraplegia type 77spastic paraplegia 77, autosomal recessiveSPG77