hereditary spastic paraplegia 28
Findings
No curated finding names hereditary spastic paraplegia 28 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations reported include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs.
Definition from the Mondo Disease Ontology (MONDO:0012256), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset
HPO, annotations 2026-09-02
Features
16 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.
- HyperreflexiaHPOHP:0001347
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Babinski signHPOHP:0003487
- Very frequent (80% to 99% of cases)
- Abolished vibration senseHPOHP:0006944
- Frequent (30% to 79% of cases)
- Impaired tactile sensationHPOHP:0010830
- Frequent (30% to 79% of cases)
- Lower limb muscle weaknessHPOHP:0007340
- 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.
- DDHD1HGNC:19714
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
5 names
Resolves to: hereditary spastic paraplegia 28
- Also called
- autosomal recessive pure spastic paraplegia caused by mutation in DDHD1autosomal recessive spastic paraplegia type 28DDHD1 autosomal recessive pure spastic paraplegiahereditary spastic paraplegia type 28SPG28