Spastic paraplegia-Paget disease of bone syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spastic paraplegia-Paget disease of bone syndrome | |
| fr | Syndrome de paraplégie spastique-maladie de Paget | |
| de | Spastische Paraplegie mit Paget-Syndrom | |
| es | Síndrome de paraplejía espástica-enfermedad ósea de Paget | |
| it | Paraplegia spastica - malattia ossea di Paget | |
| nl | Spastische paraplegie - botziekte van Paget-syndroom | |
| pt | Síndrome de paraplegia espástica-doença de Paget do osso | |
| pl | Paraplegia spastyczna - choroba Pageta kości | |
| cs | Syndrom zahrnující spastickou paraplegii a Pagetovu nemoc kostí | |
| uk | Синдром спастичної параплегії-хвороби Педжета | |
| zh | 痉挛性截瘫-Paget病骨综合征 | |
| tr | Spastik parapleji-kemik sendromunun Paget hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G11.4 | NTBT | attributed | validated |
| MONDO | 0018005 | E | validated | |
| UMLS | C4511969 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:100979Autosomal dominant complex spastic paraplegia
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| VCP | Disease-causing germline mutation(s) in | Assessed | HGNC:12666 | ENSG00000165280 | 601023 | 9p13.3 | valosin containing protein | 22991237[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 22991237[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
15 annotations · validated 2016-07-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0003487 | Babinski sign | Diagnostic criterion |
| HP:0003445 | EMG: neuropathic changes | Diagnostic criterion |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration | Diagnostic criterion |
| HP:0001288 | Gait disturbance | |
| HP:0003324 | Generalized muscle weakness | Diagnostic criterion |
| HP:0002395 | Lower limb hyperreflexia | Diagnostic criterion |
| HP:0002064 | Spastic gait | Diagnostic criterion |
| HP:0001258 | Spastic paraplegia | Diagnostic criterion |
| Very frequent (99-80%) | ||
| HP:0011842 | Abnormality of skeletal morphology | |
| HP:0002829 | Arthralgia | |
| HP:0002653 | Bone pain | |
| HP:0004563 | Increased spinal bone density | |
| HP:0002757 | Recurrent fractures | |
| Frequent (79-30%) | ||
| HP:0007289 | Limb fasciculations | |
| HP:0001308 | Tongue fasciculations | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 22991237[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/329475
- This record as JSON: /data/d/329475.json