Hereditary spastic paraplegia
Synonyms: Hereditary spastic paraparesis · SPG · Strümpell-Lorrain disease · Familial spastic paraplegia · HSP
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Age of onset
- All ages
- Status
- active
A genetically and clinically heterogeneous group of slowly progressive neurological disorders which in the pure form is characterized by pyramidal signs (weakness, spasticity, brisk tendon reflexes, and extensor plantar responses) predominantly affecting the lower limbs and with possible association of sphincter disturbances and deep sensory loss; and in the complex form by the addition of variable neurological or non-neurological features.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary spastic paraplegia | Hereditary spastic paraparesis · SPG · Strümpell-Lorrain disease · Familial spastic paraplegia · HSP |
| fr | Paraplégie spastique héréditaire | HSP · Maladie de Strümpell-Lorrain · PSH · Paraparésie spasmodique héréditaire · Paraplégie spastique familiale · SPG |
| de | Hereditäre spastische Paraplegie | Familiäre spastische Paraplegie · HSP · SPG · Spastische Spinalparalyse, hereditäre · Strümpell-Lorrain-Krankheit |
| es | Paraplejía espástica hereditaria | Enfermedad de Strümpell-Lorrain · HSP · Paraplejía espástica familiar · SPG |
| it | Paraplegia spastica ereditaria | HSP · Malattia di Strümpell-Lorrain disease · Paraparesi spastica ereditaria · Paraplegia spastica familiare · SPG |
| nl | Hereditaire spastische paraplegie | Erfelijke spastische paraparese · Familiale spastische paraplegie · HSP · SPG · Ziekte van Strümpell-Lorrain |
| pt | Paraplegia espástica hereditária | Doença de Strumpell-Lorrain · Paraparesia espástica hereditária |
| pl | Dziedziczna paraplegia spastyczna | Choroba Strümpella i Lorraina · HSP · Rodzinna paraplegia spastyczna · SPG |
| cs | Dědičná spastická paraplegie | Familiární spastická paraplegie · HSP · Hereditární spastická paraparéza · SPG · Strümpellův-Lorrainův syndrom · Strümpell-Lorrainův syndrom |
| uk | Спадкова спастична параплегія | Сімейна спастична параплегія · Спадковий спастичний парапарез · HSP · SPG · Хвороба Штрюмпеля-Лоррена |
| zh | 遗传性痉挛性截瘫 | 遗传性痉挛性下肢轻瘫 |
| tr | Kalıtsal spastik parapleji | HSP · SPG · Strümpell-Lorrain hastalığı · Ailesel spastik parapleji · Kalıtsal spastik paraparezi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G11.4 | E | specific | validated |
| ICD-11 | 8B44.0 | E | specific | validated |
| MONDO | 0019064 | E | validated | |
| MONDO | 19064 | E | validated | |
| MeSH | D015419 | E | validated | |
| UMLS | C0037773 | E | validated | |
| GARD | 6637 | E | validated | |
| MedDRA | 10019903 | 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 (2):
- ORPHA:183500Genetic neurodegenerative disease
rare genetic diseases - ORPHA:182070Rare neurodegenerative disease
rare neurological diseases
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
10 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 4.8 / 100 000 | Europe | Value and class | Validated | ORPHANET_2043954[PMID]_19339254[PMID]_19039240[PMID]_23609960[PMID]_1512613[PMID] |
| Point prevalence | 1-9 / 100 000 | 9.6 / 100 000 | Spain | Value and class | Validated | 2043954[PMID]_24603320[PMID] |
| Point prevalence | 1-9 / 100 000 | 4.1 / 100 000 | Portugal | Value and class | Validated | 23609960[PMID]_24603320[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.3 / 100 000 | Sweden | Value and class | Not yet validated | ORPHANET |
| Point prevalence | 1-9 / 100 000 | 2.1 / 100 000 | Libyan Arab Jamahiriya | Value and class | Validated | 4075075[PMID]_24603320[PMID] |
| Point prevalence | 1-9 / 100 000 | 4.2 / 100 000 | Worldwide | Value and class | Validated | ORPHANET_24603320[PMID] |
| Point prevalence | 1-9 / 100 000 | 5.75 / 100 000 | Tunisia | Value and class | Validated | 19438933[PMID]_24603320[PMID] |
| Point prevalence | 1-9 / 100 000 | 7.4 / 100 000 | Norway | Value and class | Validated | 19339254[PMID]_24603320[PMID] |
| Point prevalence | 1-9 / 100 000 | 2.7 / 100 000 | Italy | Value and class | Validated | 1512613[PMID]_3759416[PMID]_7793232[PMID] |
| Point prevalence | 1-9 / 100 000 | 4.4 / 100 000 | Estonia | Value and class | Validated | 19039240[PMID]_24603320[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/685
- This record as JSON: /data/d/685.json