Autosomal dominant spastic paraplegia type 4
Synonyms: SPG4
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
A rare form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant spastic paraplegia type 4 | SPG4 |
| fr | Paraplégie spastique autosomique dominante type 4 | = en |
| de | Spastische Paraplegie, autosomal-dominante, Typ 4 | SPG4 · Spastische Paraplegie, autosomal-dominante, familiäre, Typ 2 |
| es | Paraplejía espástica autosómica dominante tipo 4 | = en |
| it | Paraplegia spastica autosomica dominante, tipo 4 | Paraplegia spastica autosomica dominante, tipo 2 · SPG4 |
| nl | Autosomaal dominante spastische paraplegie type 4 | = en |
| pt | Paraplegia espástica autossómica dominante tipo 4 | = en |
| pl | Autosomalna dominująca paraplegia spastyczna typu 4 | = en |
| cs | Autozomálně dominantní spastická paraplegie, typ 4 | = en |
| uk | Аутосомно-домінантна спастична параплегія, тип 4 | = en |
| zh | 常染色体显性遗传痉挛性截瘫4型 | = en |
| tr | Otozomal dominant spastik parapleji tip 4 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 182601 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.00 | NTBT | index | validated |
| MONDO | 0008438 | E | validated | |
| MeSH | C536865 | E | validated | |
| UMLS | C1866855 | E | validated | |
| GARD | 4925 | 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 |
|---|---|---|---|---|---|---|---|---|
| SPAST | Disease-causing germline mutation(s) in | Assessed | HGNC:11233 | ENSG00000021574 | 604277 | 2p22.3 | spastin | 17895902[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.91 / 100 000 | Portugal | Value and class | Validated | 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
19 annotations · validated 2018-03-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0011448 | Ankle clonus | |
| HP:0003487 | Babinski sign | |
| HP:0001348 | Brisk reflexes | |
| HP:0004302 | Functional motor deficit | |
| HP:0006938 | Impaired vibration sensation at ankles | |
| HP:0008969 | Leg muscle stiffness | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0002061 | Lower limb spasticity | |
| HP:0001257 | Spasticity | |
| HP:0000012 | Urinary urgency | |
| Occasional (29-5%) | ||
| HP:0100543 | Cognitive impairment | |
| HP:0003693 | Distal amyotrophy | |
| HP:0001260 | Dysarthria | |
| HP:0007350 | Hyperreflexia in upper limbs | |
| HP:0001761 | Pes cavus | |
| HP:0002839 | Urinary bladder sphincter dysfunction | |
| Very rare (<4-1%) | ||
| HP:0001251 | Ataxia | |
| HP:0001249 | Intellectual disability | |
| HP:0001250 | Seizure | |
Annotation source: 20301339[PMID]_17098887[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/100985
- This record as JSON: /data/d/100985.json