hereditary spastic paraplegia 12
Findings
No curated finding names hereditary spastic paraplegia 12 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal dominant spastic paraplegia type 12 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus.
Definition from the Mondo Disease Ontology (MONDO:0011489), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
Features
51 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
- 3 of 3 reported patients
- Brisk reflexesHPOHP:0001348
- 3 of 3 reported patients
- Chronic constipationHPOHP:0012450
- 1 of 1 reported patient
- FallsHPOHP:0002527
- 2 of 2 reported patients
- Leg muscle stiffnessHPOHP:0008969
- 3 of 3 reported patients
- Lower limb hyperreflexiaHPOHP:0002395
- 27 of 27 reported patients
- Lower limb hypertoniaHPOHP:0006895
Show the remaining 39
- Urinary incontinenceHPOHP:0000020
- 11 of 13 reported patients
- Frequent (30% to 79% of cases)
- Babinski signHPOHP:0003487
- 25 of 30 reported patients
- Frequent (30% to 79% of cases)
- Degeneration of the lateral corticospinal tractsHPOHP:0002314
- Very frequent (80% to 99% of cases)
- Gait disturbanceHPOHP:0001288
- Very frequent (80% to 99% of cases)
- HyperreflexiaHPOHP:0001347
- Very frequent (80% to 99% of cases)
- Lower limb spasticityHPOHP:0002061
Genes
2 genes
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.
Where it sits
- A kind of
Other names
5 names
Resolves to: hereditary spastic paraplegia 12
- Also called
- autosomal dominant spastic paraplegia type 12hereditary spastic paraplegia caused by mutation in RTN2hereditary spastic paraplegia type 12RTN2 hereditary spastic paraplegiaSPG12