Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare genetic skeletal muscle disease characterized by neonatal to childhood onset of slowly progressive muscle weakness and atrophy primarily affecting the lower limbs, joint contractures, kyphosis or lordosis of the spine, lateral tongue atrophy, and pes equinus. Progression to upper limb involvement, facial weakness, language impairment, intellectual disability, and behavioral abnormalities have been reported in addition. Muscle biopsy shows myopathic changes with increased fiber size variation, internalized nuclei, fiber atrophy, as well as rod structures and core targetoid defects.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome | |
| fr | Syndrome de cyphose-atrophie de la langue-myopathie myofibrillaire | |
| de | Kyphose-laterale Zungenatrophie-myofibrilläre Myopathie-Syndrom | |
| es | Síndrome de cifosis-atrofia lateral de la lengua-miopatía miofibrilar | |
| it | Sindrome cifosi-atrofia laterale della lingua-miopatia miofibrillare | |
| nl | Kyfose - laterale tongatrofie - myofibrillaire myopathie-syndroom | |
| pt | Síndrome de cifose-atrofia lateral da língua-miopatia miofibrilar | |
| pl | Zespół kifoskoliozy, bocznego zaniku języka i miopatii miofibrylarnej | |
| cs | Syndrom kyfózy, laterální atrofie jazyka a myofibrilární myopatie | |
| uk | Синдром кіфозу-бічної атрофії язика-міофібрилярної міопатії | |
| zh | 脊柱后凸-舌单侧萎缩-肌原纤维肌病综合征 | |
| tr | Kifoz-lateral dil atrofisi-miyofibriler miyopati sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617114 | E | validated | |
| ICD-10 | G71.2 | NTBT | attributed | validated |
| MONDO | 0044647 | E | validated | |
| UMLS | C5567453 | 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:593Myofibrillar myopathy
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 | 27484770[PMID]_27485408[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27484770[PMID]_27485408[PMID] |
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 27484770[PMID]_27485408[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/496686
- This record as JSON: /data/d/496686.json