Autosomal dominant spastic paraplegia type 8
Synonyms: SPG8
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult
- Status
- active
A rare, pure or complex form of hereditary spastic paraplegia characterized by early adulthood onset of slowly progressive lower limb spasticity resulting in gait disturbances, hyperreflexia and extensor plantar responses, urinary urgency and/or incontinence, muscle weakness, decreased vibration sense and mild muscular atrophy in lower extremities. It may be associated with complicating signs, such as sensory neuropathy, ataxia (i.e. mild dysmetria, uncoordinated eye movement) and mild dysphagia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant spastic paraplegia type 8 | SPG8 |
| fr | Paraplégie spastique autosomique dominante type 8 | = en |
| de | Spastische Paraplegie, autosomal-dominante, Typ 8 | = en |
| es | Paraplejía espástica autosómica dominante tipo 8 | = en |
| it | Paraplegia spastica autosomica dominante tipo 8 | = en |
| nl | Autosomaal dominante spastische paraplegie type 8 | = en |
| pt | Paraplegia espástica autossómica dominante tipo 8 | = en |
| pl | Autosomalna dominująca paraplegia spastyczna typu 8 | = en |
| cs | Autozomálně dominantní spastická paraplegie, typ 8 | = en |
| uk | Аутосомно-домінантна спастична параплегія, тип 8 | = en |
| zh | 常染色体显性遗传痉挛性截瘫8型 | = en |
| tr | Otozomal dominant spastik parapleji tip 8 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 603563 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.00 | NTBT | index | validated |
| MONDO | 0011339 | E | validated | |
| MeSH | C580458 | E | validated | |
| UMLS | C1863704 | E | validated | |
| GARD | 9591 | 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 |
|---|---|---|---|---|---|---|---|---|
| WASHC5 | Disease-causing germline mutation(s) in | Assessed | HGNC:28984 | ENSG00000164961 | 610657 | 8q24.13 | WASH complex subunit 5 | 17160902[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 families | Worldwide | Family(ies) | Validated | ORPHANET | |
| 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
22 annotations · validated 2018-04-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003487 | Babinski sign | |
| HP:0002314 | Degeneration of the lateral corticospinal tracts | |
| HP:0001288 | Gait disturbance | |
| HP:0001347 | Hyperreflexia | |
| HP:0002061 | Lower limb spasticity | |
| HP:0007020 | Progressive spastic paraplegia | |
| Frequent (79-30%) | ||
| HP:0002166 | Impaired vibration sensation in the lower limbs | |
| HP:0002070 | Limb ataxia | |
| HP:0002406 | Limb dysmetria | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0003394 | Muscle spasm | |
| HP:0009049 | Peroneal muscle atrophy | |
| HP:0001761 | Pes cavus | |
| HP:0002064 | Spastic gait | |
| HP:0100561 | Spinal cord lesion | |
| HP:0000020 | Urinary incontinence | |
| HP:0000012 | Urinary urgency | |
| Occasional (29-5%) | ||
| HP:0002169 | Clonus | |
| HP:0006986 | Upper limb spasticity | |
| Excluded (0%) | ||
| HP:0012898 | Abnormal lower-limb motor evoked potentials | |
| HP:0002921 | Abnormality of the cerebrospinal fluid | |
| HP:0003457 | EMG abnormality | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 23455931[PMID]_10797436[PMID]_9973294[PMID]_NBK1827[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/100989
- This record as JSON: /data/d/100989.json