Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder
Synonyms: SPOAN and SPOAN-related disorder
- Type
- Clinical group
- Group
- Group of disorders
- Status
- active
A group of rare, genetic, neurodegenerative diseases characterized by an infancy- to childhood-onset of progressive spastic paraplegia (with delayed motor milestones, gait disturbances, hyperreflexia and extensor plantar responses), optic atrophy (which may be accompanied by nystagmus and visual loss) and progressive peripheral neuropathy (with sensory impairment and distal muscle weakness/atrophy in upper and lower extremities). Additional signs may include foot deformities, spinal defects (scoliosis, kyphosis), joint contractures, exaggerated startle response, speech disorders, hyperhidrosis, extrapyramidal signs and intellectual disability. In very rare cases, a variant phenotype with less prominent or absent optic atrophy and/or neuropathy may be observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder | SPOAN and SPOAN-related disorder |
| fr | Syndrome paraplégie spastique-atrophie optique-neuropathie et apparentés | SPOAN et apparentés |
| de | Spastische Paraplegie-Optikusatrophie-Neuropathie und verwandte Krankheiten | SPOAN und SPOAN-verwandte Krankheiten |
| es | Paraplejía espástica-atrofia óptica-neuropatía y trastornos relacionados | SPOAN y trastornos asociados a SPOAN |
| it | Paraplegia spastica-atrofia ottica-neuropatia e malattia correlata a paraplegia spastica-atrofia ottica-neuropatia | SPOAN e malattia SPOAN-correlata |
| nl | Spastische paraplegie - opticusatrofie - neuropathie en spastische paraplegie - opticusatrofie - neuropathie-gerelateerde stoornis | SPOAN- en SPOAN-gerelateerde stoornis |
| pt | Paraplegia espástica-atrofia óptica-neuropatia e doenças relacionados com paraplegia espástica-atrofia óptica-neuropatia | SPOAN e doenças associadas a SPOAN |
| pl | Paraplegia spastyczna-zanik nerwu wzrokowego-neuropatia i zaburzenia związane z paraplegią spastyczną-zanikiem nerwu wzrokowego i neuropatią | SPOAN i zaburzenia związane z SPOAN |
| cs | Spastická paraplegie, optická atrofie a neuropatie a porucha vázaná na tato onemocnění | SPOAN a SPOAN-vázaná porucha |
| uk | Спастична параплегія-атрофія-нейропатія зорового нерва та розлад, повязаний зі спастичною параплегією-атрофією-нейропатією зорового нерва | SPOAN та розлади, повязані з SPOAN |
| zh | 痉挛性截瘫-视神经萎缩神经病和痉挛性截瘫-视神经萎缩神经病相关疾病 | SPOAN和SPOAN相关疾病 |
| tr | Spastik parapleji-optik atrofi-nöropati ve spastik parapleji-optik atrofi-nöropati -ilişkili bozukluk | SPOAN ve SPOAN-ilişkili bozukluk |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 18550 | E | validated | |
| UMLS | C5230629 | 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 (3):
- ORPHA:100981Autosomal recessive complex spastic paraplegia
rare genetic diseases; rare neurological diseases - ORPHA:166Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:441434Syndromic hereditary optic neuropathy
rare genetic diseases; rare ophthalmic disorders
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/431320
- This record as JSON: /data/d/431320.json