hereditary spastic paraplegia 38
MONDO:0012867Mondo
Findings
No curated finding names hereditary spastic paraplegia 38 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A hereditary spastic paraplegia that has material basis in variation in the chromosome region 4p16-p15.
Definition from the Mondo Disease Ontology (MONDO:0012867), 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.
- Babinski signHPOHP:0003487
- Very frequent (80% to 99% of cases)
- Degeneration of the lateral corticospinal tractsHPOHP:0002314
- Very frequent (80% to 99% of cases)
- HyperreflexiaHPOHP:0001347
- Very frequent (80% to 99% of cases)
- Lower limb spasticityHPOHP:0002061
- Very frequent (80% to 99% of cases)
- Pes cavusHPOHP:0001761
- Very frequent (80% to 99% of cases)
- Progressive spastic paraplegiaHPOHP:0007020
- Very frequent (80% to 99% of cases)
- Spastic gaitHPOHP:0002064
- Very frequent (80% to 99% of cases)
- Thenar muscle atrophyHPOHP:0003393
- Very frequent (80% to 99% of cases)
- Amyotrophy of ankle musculatureHPOHP:0009031
- Frequent (30% to 79% of cases)
- Distal lower limb muscle weaknessHPOHP:0009053
- Frequent (30% to 79% of cases)
- EMG abnormalityHPOHP:0003457
- Frequent (30% to 79% of cases)
- First dorsal interossei muscle atrophyHPOHP:0003426
- Frequent (30% to 79% of cases)
Reported absent (6)
- Abnormal cerebrospinal fluid morphologyHPOHP:0002921
- Abnormal lower-limb motor evoked potentialsHPOHP:0012898
- DementiaHPOHP:0000726
- Peroneal muscle atrophyHPOHP:0009049
- SeizureHPOHP:0001250
- Urinary incontinenceHPOHP:0000020
Show the remaining 7
- First dorsal interossei muscle weaknessHPOHP:0003392
- Frequent (30% to 79% of cases)
- Spinal cord lesionHPOHP:0100561
- Frequent (30% to 79% of cases)
- Thenar muscle weaknessHPOHP:0003427
- Frequent (30% to 79% of cases)
- Cognitive impairmentHPOHP:0100543
- Occasional (5% to 29% of cases)
- Foot dorsiflexor weaknessHPOHP:0009027
- Occasional (5% to 29% of cases)
- Frontotemporal cerebral atrophyHPOHP:0006892
- Occasional (5% to 29% of cases)
Where it sits
Other names
3 names
Resolves to: hereditary spastic paraplegia 38
- Also called
- autosomal dominant spastic paraplegia type 38hereditary spastic paraplegia type 38SPG38