hereditary spastic paraplegia 43
Findings
No curated finding names hereditary spastic paraplegia 43 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported.
Definition from the Mondo Disease Ontology (MONDO:0014024), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Slowly progressive
HPO, annotations 2026-09-02
Features
24 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.
- Gait disturbanceHPOHP:0001288
- 4 of 4 reported patients · Juvenile onset
- Very frequent (80% to 99% of cases)
- Loss of ambulationHPOHP:0002505
- 2 of 2 reported patients · Late young adult onset
- Muscle weaknessHPOHP:0001324
- 4 of 4 reported patients
- Peripheral neuropathyHPOHP:0009830
- 4 of 4 reported patients
- SpasticityHPOHP:0001257
- 4 of 4 reported patients · Juvenile onset
- 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.
- C19orf12HGNC:25443
- Limited · Ambry Genetics · Autosomal recessive · 2023
- Limited · Genomics England PanelApp · Autosomal recessive · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: hereditary spastic paraplegia 43
- Also called
- autosomal recessive complex spastic paraplegia caused by mutation in C19orf12autosomal recessive spastic paraplegia type 43C19orf12 autosomal recessive complex spastic paraplegiahereditary spastic paraplegia type 43SPG43