Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
Synonyms: Kyphoscoliosis-lateral tongue atrophy-HSP syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare complex hereditary spastic paraplegia characterized by neonatal to infantile onset of progressive spasticity in the lower limbs, hyperreflexia, tip-toe walking, pes equinus, and delayed motor developmental milestones. Kyphoscoliosis becomes evident in older patients, and most patients show atrophy of the lateral aspects of the tongue. Additional signs may include intellectual disability, language impairment, and moderate upper limb involvement.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome | Kyphoscoliosis-lateral tongue atrophy-HSP syndrome |
| fr | Syndrome de cyphoscoliose-atrophie de la langue-paraplégie spastique héréditaire | |
| de | Kyphoskoliose-laterale Zungenatrophie-hereditäre spastische Paraplegie-Syndrom | Kyphoskoliose-laterale Zungenatrophie-HSP-Syndrom |
| es | Síndrome de cifoescoliosis-atrofia lateral de la lengua-paraplejía espástica hereditaria | Síndrome de cifoescoliosis-atrofia lateral de la lengua-PEH |
| it | Sindrome cifoscoliosi - atrofia laterale della lingua - paraplegia spastica ereditaria | |
| nl | Kyfoscoliose - laterale tongatrofie - hereditaire spastische paraplegie-syndroom | Kyfoscoliose - laterale tongatrofie - HSP-syndroom |
| pt | Síndrome de cifoscoliose-atrofia lateral da língua-paraplegia espástica hereditária | |
| pl | Zespół kyfoskoliozy - bocznego zaniku języka - dziedziczenj paraplegii spastycznej | = en |
| cs | Syndrom zahrnující kyfoskoliózu, laterální atrofii jazyka a hereditární spastickou paraplegii | Kyphoscoliosis-lateral tongue atrophy-HSP syndrome · Syndrom zahrnující kyfoskoliózu, laterální atrofii jazyka a HSP |
| uk | Синдром кіфосколіозу-бічної атрофії язика-спадкової спастичної параплегії | Кіфосколіоз - латеральна атрофія язика - синдром HSP |
| zh | 脊柱侧凸-舌单侧萎缩-遗传性痉挛性截瘫综合征 | = en |
| tr | Kifoskolyoz-lateral dil atrofisi-kalıtsal spastik parapleji sendromu | Kifoskolyoz-lateral dil atrofisi-HSP sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G11.4 | NTBT | attributed | validated |
| MONDO | 0044648 | E | validated | |
| UMLS | C5567452 | 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 |
|---|---|---|---|---|---|---|---|---|
| KY | Disease-causing germline mutation(s) in | Assessed | HGNC:26576 | ENSG00000174611 | 605739 | 3q22.2 | kyphoscoliosis peptidase | 28488683[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28488683[PMID] |
| Cases/families | 12 cases | Worldwide | Case(s) | Validated | 28488683[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
22 annotations · validated 2018-11-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002194 | Delayed gross motor development | |
| HP:0009046 | Difficulty running | |
| HP:0003698 | Difficulty standing | |
| HP:0002751 | Kyphoscoliosis | Diagnostic criterion |
| HP:0007210 | Lower limb amyotrophy | |
| HP:0002395 | Lower limb hyperreflexia | |
| HP:0002061 | Lower limb spasticity | |
| HP:0003394 | Muscle spasm | |
| HP:0012531 | Pain | |
| HP:0007020 | Progressive spastic paraplegia | Diagnostic criterion |
| HP:0008997 | Proximal muscle weakness in upper limbs | |
| HP:0001762 | Talipes equinovarus | |
| HP:0030051 | Tip-toe gait | |
| HP:0012473 | Tongue atrophy | Diagnostic criterion |
| HP:0009129 | Upper limb amyotrophy | |
| Occasional (29-5%) | ||
| HP:0003487 | Babinski sign | |
| HP:0002015 | Dysphagia | |
| HP:0001249 | Intellectual disability | |
| HP:0006380 | Knee flexion contracture | |
| Excluded (0%) | ||
| HP:0040081 | Abnormal circulating creatine kinase concentration | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0002059 | Cerebral atrophy | |
Annotation source: 28488683[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/496689
- This record as JSON: /data/d/496689.json