spastic paraplegia-Paget disease of bone syndrome
Findings
No curated finding names spastic paraplegia-Paget disease of bone syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported.
Definition from the Mondo Disease Ontology (MONDO:0018005), read 2026-09-29. CC BY 4.0.
Features
15 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
- Obligate (100% of cases)
- Elevated circulating alkaline phosphatase concentrationHPOHP:0003155
- Obligate (100% of cases)
- EMG: neuropathic changesHPOHP:0003445
- Obligate (100% of cases)
- Gait disturbanceHPOHP:0001288
- Obligate (100% of cases)
- Generalized muscle weaknessHPOHP:0003324
- Obligate (100% of cases)
- Lower limb hyperreflexiaHPOHP:0002395
- Obligate (100% of cases)
- Spastic gaitHPO
Show the remaining 3
- Recurrent fracturesHPOHP:0002757
- Very frequent (80% to 99% of cases)
- Limb fasciculationsHPOHP:0007289
- Frequent (30% to 79% of cases)
- Tongue fasciculationsHPOHP:0001308
- 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.
- VCPHGNC:12666
- Supportive · Orphanet · Autosomal dominant · 2021