Autosomal spastic paraplegia type 58
Synonyms: Autosomal spastic ataxia type 2 · SPAX2 · SPG58
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Elderly, Infancy
- Status
- active
A rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal spastic paraplegia type 58 | Autosomal spastic ataxia type 2 · SPAX2 · SPG58 |
| fr | Paraplégie spastique autosomique type 58 | Ataxie spastique autosomique type 2 · SPAX2 · SPG58 |
| de | Spastische Paraplegie, autosomale, Typ 58 | SPAX2 · SPG58 · Spastische Paraplegie, autosomale, Typ 2 |
| es | Paraplejía espástica autosómica tipo 58 | Ataxia espástica autosómica tipo 2 · Paraplejía espástica autosómica recesiva tipo 58 · SPAX2 · SPG58 |
| it | Paraplegia spastica autosomica recessiva, tipo 58 | SPG58 |
| nl | Autosomale spastische paraplegie type 58 | Autosomale spastische ataxie type 2 · SPAX2 · SPG58 |
| pt | Paraplegia espástica autossómica tipo 58 | |
| pl | Autosomalna paraplegia spastyczna typu 58 | SPAX2 · SPG58 · Autosomalna recesywna ataksja spastyczna typu 2 |
| cs | Autozomálně recesivní spastická paraplegie, typ 58 | SPG58 |
| uk | Аутосомна спастична параплегія, тип 58 | Аутосомна спастична атаксія типу 2 · SPAX2 · SPG58 |
| zh | 常染色体痉挛性截瘫58型 | 常染色体痉挛性共济失调2型 |
| tr | Otozomal spastik parapleji tip 58 | SPAX2 · SPG58 · Otozomal spastik ataksi tip 2 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611302 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| MONDO | 0012651 | E | validated | |
| UMLS | C1969796 | 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:100981Autosomal recessive complex spastic paraplegia
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KIF1C | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6317 | ENSG00000129250 | 603060 | 17p13.2 | kinesin family member 1C | 24319291[PMID]_24482476[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 19 cases | Worldwide | Case(s) | Validated | 24482476[PMID]_24319291[PMID]_24482476[PMID]_24808017[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24482476[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
33 annotations · validated 2018-02-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0001260 | Dysarthria | |
| HP:0002380 | Fasciculations | |
| HP:0002066 | Gait ataxia | |
| HP:0000668 | Hypodontia | |
| HP:0002395 | Lower limb hyperreflexia | |
| HP:0002497 | Spastic ataxia | |
| Frequent (79-30%) | ||
| HP:0003487 | Babinski sign | |
| HP:0002072 | Chorea | |
| HP:0002169 | Clonus | |
| HP:0003693 | Distal amyotrophy | |
| HP:0001310 | Dysmetria | |
| HP:0025357 | Erratic myoclonus | |
| HP:0002359 | Frequent falls | |
| HP:0000666 | Horizontal nystagmus | |
| HP:0000252 | Microcephaly | |
| HP:0011096 | Peripheral demyelination | |
| HP:0004322 | Short stature | |
| HP:0001257 | Spasticity | |
| HP:0030187 | Titubation | |
| HP:0001337 | Tremor | |
| Occasional (29-5%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0001263 | Global developmental delay | |
| HP:0001347 | Hyperreflexia | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002080 | Intention tremor | |
| HP:0030051 | Tip-toe gait | |
| HP:0002317 | Unsteady gait | |
| Very rare (<4-1%) | ||
| HP:0001272 | Cerebellar atrophy | |
| HP:0002059 | Cerebral atrophy | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0007663 | Reduced visual acuity | |
| HP:0000473 | Torticollis | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 17273843[PMID]_24319291[PMID]_24482476[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/397946
- This record as JSON: /data/d/397946.json