hereditary spastic paraplegia 55
MONDO:0014020Mondo
Findings
No curated finding names hereditary spastic paraplegia 55 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
35 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.
- Central scotomaHPOHP:0000603
- 2 of 2 reported patients
- HyperreflexiaHPOHP:0001347
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Impaired distal tactile sensationHPOHP:0006937
- 2 of 2 reported patients
- Impaired distal vibration sensationHPOHP:0006886
- 2 of 2 reported patients
- Lower limb amyotrophyHPOHP:0007210
- 2 of 2 reported patients
- Lower limb muscle weaknessHPOHP:0007340
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Lower limb spasticityHPOHP:0002061
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Optic atrophyHPOHP:0000648
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Reduced visual acuityHPOHP:0007663
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Spastic paraplegiaHPOHP:0001258
- 2 of 2 reported patients
- Tibialis anterior muscle atrophyHPOHP:0011399
- 1 of 1 reported patient
- Babinski signHPOHP:0003487
- 1 of 2 reported patients
- Frequent (30% to 79% of cases)
Show the remaining 23
- Decreased sensory nerve conduction velocityHPOHP:0003448
- Frequent (30% to 79% of cases)
- Distal sensory impairmentHPOHP:0002936
- Frequent (30% to 79% of cases)
- Focal white matter lesionsHPOHP:0007042
- Frequent (30% to 79% of cases)
- Foot dorsiflexor weaknessHPOHP:0009027
- 1 of 2 reported patients
- Frequent (30% to 79% of cases)
- Hypoplasia of the corpus callosumHPOHP:0002079
- Frequent (30% to 79% of cases)
- Mild intellectual disabilityHPOHP:0001256
Where it sits
Other names
3 names
Resolves to: hereditary spastic paraplegia 55
- Also called
- autosomal recessive spastic paraplegia type 55hereditary spastic paraplegia type 55SPG55