hereditary spastic paraplegia 4
Findings
No curated finding names hereditary spastic paraplegia 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal dominant spastic paraplegia type 4 (SPG4) is a form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset.
Definition from the Mondo Disease Ontology (MONDO:0008438), read 2026-09-29. CC BY 4.0.
Features
19 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
- Frequent (30% to 79% of cases)
- Babinski signHPOHP:0003487
- Frequent (30% to 79% of cases)
- Brisk reflexesHPOHP:0001348
- Frequent (30% to 79% of cases)
- Functional motor deficitHPOHP:0004302
- Frequent (30% to 79% of cases)
- Impaired vibration sensation at anklesHPOHP:0006938
- Frequent (30% to 79% of cases)
- Leg muscle stiffnessHPOHP:0008969
- Frequent (30% to 79% of cases)
- Lower limb muscle weakness
Show the remaining 7
- DysarthriaHPOHP:0001260
- Occasional (5% to 29% of cases)
- Pes cavusHPOHP:0001761
- Occasional (5% to 29% of cases)
- Upper limb hyperreflexiaHPOHP:0007350
- Occasional (5% to 29% of cases)
- Urinary bladder sphincter dysfunctionHPOHP:0002839
- Occasional (5% to 29% of cases)
- AtaxiaHPOHP:0001251
- Very rare (1% to 4% of cases)
- Intellectual disabilityHPOHP:0001249
- Very rare (1% to 4% 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.
- SPASTHGNC:11233
- Definitive · Illumina · Autosomal dominant · 2021
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
5 names
Resolves to: hereditary spastic paraplegia 4
- Also called
- autosomal dominant spastic paraplegia type 4hereditary spastic paraplegia caused by mutation in SPASThereditary spastic paraplegia type 4SPAST hereditary spastic paraplegiaSPG4