spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia
MONDO:0957813Mondo
Findings
No curated finding names spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital 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.
- Babinski signHPOHP:0003487
- 2 of 2 reported patients
- Gait disturbanceHPOHP:0001288
- 15 of 15 reported patients
- Impaired vibratory sensationHPOHP:0002495
- 1 of 1 reported patient
- Joint hypermobilityHPOHP:0001382
- 1 of 1 reported patient
- MyoclonusHPOHP:0001336
- 1 of 1 reported patient
- NystagmusHPOHP:0000639
- 1 of 1 reported patient
- Optic neuropathyHPOHP:0001138
- 2 of 2 reported patients
- Paroxysmal dyskinesiaHPOHP:0007166
- 1 of 1 reported patient
- ScoliosisHPOHP:0002650
- 1 of 1 reported patient
- Spastic gaitHPOHP:0002064
- 5 of 5 reported patients
- Abnormal pyramidal signHPOHP:0007256
- 19 of 22 reported patients
- Upper limb muscle weaknessHPOHP:0003484
- 4 of 5 reported patients
Show the remaining 14
- Lower limb muscle weaknessHPOHP:0007340
- 16 of 21 reported patients
- Spastic paraplegiaHPOHP:0001258
- 21 of 28 reported patients
- Skeletal muscle atrophyHPOHP:0003202
- 3 of 5 reported patients
- AtaxiaHPOHP:0001251
- 14 of 28 reported patients
- Distal lower limb muscle weaknessHPOHP:0009053
- 9 of 22 reported patients
- Pes cavusHPOHP:0001761
- 6 of 28 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.
- SPTAN1HGNC:11273
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of