Autosomal dominant spastic paraplegia type 3
Synonyms: Autosomal dominant spastic paraplegia type 3A · SPG3A · Strümpell disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult, Childhood
- Status
- active
A rare, pure or complex form of hereditary spastic paraplegia, with variable phenotype, typically characterized by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness, associated with <i>pes cavus</i>, scoliosis, sphincter disturbances and/or urinary bladder hyperactivity. Rare additional associated manifestations may include mild intellectual disability, axonal motor neuropathy, and seizures.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant spastic paraplegia type 3 | Autosomal dominant spastic paraplegia type 3A · SPG3A · Strümpell disease |
| fr | Paraplégie spastique autosomique dominante type 3 | Maladie de Strümpell · Paraplégie spastique autosomique dominante type 3A · SPG3A |
| de | Spastische Paraplegie, autosomal-dominante, Typ 3 | SPG3A · Strümpell-Krankheit |
| es | Paraplejía espástica autosómica dominante tipo 3 | Enfermedad de Strümpell · Paraplejía espástica autosómica dominante tipo 3A · SPG3A |
| it | Paraplegia spastica autosomica dominante tipo 3 | Malattia di Strümpell · Paraplegia spastica autosomica dominante tipo 3A · SPG3A |
| nl | Autosomaal dominante spastische paraplegie type 3 | Autosomaal dominante spastische paraplegie type 3A · SPG3A · Ziekte van Strümpell |
| pt | Paraplegia espástica autossómica dominante tipo 3 | Doença Strümpell · SPG3A |
| pl | Autosomalna dominująca paraplegia spastyczna typu 3 | Choroba Strümpella |
| cs | Autozomálně dominantní spastická paraplegie, typ 3 | Strümpellova choroba |
| uk | Аутосомно-домінантна спастична параплегія, тип 3 | Аутосомно-домінантна спастична параплегія, тип 3А · SPG3A · Хвороба Штрюмпеля |
| zh | 常染色体显性遗传痉挛性截瘫3型 | Strümpell病 |
| tr | Otozomal dominant spastik parapleji tip 3 | Strümpell hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 182600 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.00 | NTBT | index | validated |
| MONDO | 8437 | E | validated | |
| MeSH | C536864 | E | validated | |
| UMLS | C2931355 | E | validated | |
| GARD | 5041 | 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:320342Pure or complex autosomal dominant spastic paraplegia
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ATL1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11231 | ENSG00000198513 | 606439 | 14q22.1 | atlastin GTPase 1 | 11685207[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.14 / 100 000 | Portugal | Value and class | Validated | 23609960[PMID] |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Validated | 20862796[PMID]_8649538[PMID]_23609960[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
20 annotations · validated 2018-03-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003487 | Babinski sign | |
| HP:0009053 | Distal lower limb muscle weakness | |
| HP:0002395 | Lower limb hyperreflexia | |
| HP:0002061 | Lower limb spasticity | |
| Frequent (79-30%) | ||
| HP:0011448 | Ankle clonus | |
| HP:0008944 | Distal lower limb amyotrophy | |
| HP:0001288 | Gait disturbance | |
| HP:0002064 | Spastic gait | |
| Occasional (29-5%) | ||
| HP:0002495 | Impaired vibratory sensation | |
| HP:0001270 | Motor delay | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0030051 | Tip-toe gait | |
| HP:0000012 | Urinary urgency | |
| Very rare (<4-1%) | ||
| HP:0002067 | Bradykinesia | |
| HP:0001260 | Dysarthria | |
| HP:0002359 | Frequent falls | |
| HP:0001510 | Growth delay | |
| HP:0100963 | Hyperesthesia | |
| HP:0006895 | Lower limb hypertonia | |
| HP:0002063 | Rigidity | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 17502470[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/100984
- This record as JSON: /data/d/100984.json