ORPHA:101004
Autosomal recessive spastic paraplegia type 24
Synonyms: SPG24
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A very rare, pure form of spastic paraplegia characterized by an onset in infancy of lower limb spasticity associated with gait disturbances, scissor gait, tiptoe walking, clonus and increased deep tendon reflexes. Mild upper limb involvement may occasionally also be associated.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive spastic paraplegia type 24 | SPG24 |
| fr | Paraplégie spastique autosomique récessive type 24 | = en |
| de | Spastische Paraplegie, autosomal-rezessive, Typ 24 | = en |
| es | Paraplejía espástica autosómica recesiva tipo 24 | = en |
| it | Paraplegia spastica autosomica recessiva tipo 24 | = en |
| nl | Autosomaal recessieve spastische paraplegie type 24 | = en |
| pt | Paraplegia espástica autossómica recessiva tipo 24 | = en |
| pl | Autosomalna recesywna paraplegia spastyczna typu 24 | = en |
| cs | Autozomálně recesivní spastická paraplegie, typ 24 | = en |
| uk | Аутосомно-рецесивна спастична параплегія, тип 24 | = en |
| zh | 常染色体隐性遗传痉挛性截瘫24型 | = en |
| tr | Otozomal resesif spastik parapleji tip 24 | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607584 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.01 | NTBT | index | validated |
| MONDO | 0011862 | E | validated | |
| MeSH | C564375 | E | validated | |
| UMLS | C1843569 | E | validated | |
| GARD | 9296 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:100982Autosomal recessive pure spastic paraplegia
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SPG24 | Disease-causing germline mutation(s) in | Assessed | HGNC:22993 | 13q14 | spastic paraplegia 24 (autosomal recessive) |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 12499481[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_12499481[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
7 annotations · validated 2018-04-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002169 | Clonus | |
| HP:0001347 | Hyperreflexia | |
| HP:0012407 | Scissor gait | |
| HP:0001258 | Spastic paraplegia | |
| HP:0001257 | Spasticity | |
| HP:0030051 | Tip-toe gait | |
| Frequent (79-30%) | ||
| HP:0000407 | Sensorineural hearing impairment | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 12499481[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/101004
- This record as JSON: /data/d/101004.json