Rigid spine syndrome
Synonyms: Rigid spine congenital muscular dystrophy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rigid spine syndrome | Rigid spine congenital muscular dystrophy |
| fr | Syndrome de la colonne raide | Rigid spine syndrome · Syndrome du rachis raide |
| de | Rigid-Spine-Syndrom | |
| es | Síndrome de columna rígida | |
| it | Sindrome della colonna rigida | |
| nl | Rigide wervelkolom-syndroom | |
| pt | Síndrome da coluna rígida | |
| pl | Zespół "sztywnego kręgosłupa" ( Rigid spine syndrome ) | = en |
| cs | Syndrom rigidní páteře | Vrozená svalová dystrofie se spinální rigiditou |
| uk | Синдром ригідного хребта | Вроджена мязова дистрофія хребта з ригідністю |
| zh | 强直脊柱综合征 | 强直脊柱先天性肌萎缩 |
| tr | Sert omurga sendromu | Rijit omurga doğumsal kas distrofisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 602771 | NTBT | validated | |
| OMIM | 620265 | NTBT | validated | |
| ICD-10 | G71.2 | NTBT | attributed | validated |
| ICD-11 | 8C70.6 | NTBT | index | validated |
| MONDO | 0019951 | E | validated | |
| MeSH | C535683 | E | validated | |
| UMLS | C0410180 | E | validated | |
| GARD | 4723 | 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:97242Congenital muscular dystrophy
rare genetic diseases; rare neurological diseases - ORPHA:209041Qualitative or quantitative defects of desmin
rare genetic diseases - ORPHA:209193Qualitative or quantitative defects of selenoprotein N1
rare genetic diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ACTA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:129 | ENSG00000143632 | 102610 | 1q42.13 | actin alpha 1, skeletal muscle | 25182138[PMID] |
| SELENON | Disease-causing germline mutation(s) in | Assessed | HGNC:15999 | ENSG00000162430 | 606210 | 1p36.11 | selenoprotein N | 20301468[PMID]_11528383[PMID] |
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Prevalence at birth | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Point prevalence | 1-9 / 1 000 000 | 0.13 / 100 000 | United Kingdom | Value and class | Validated | 19767415[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
20 annotations · validated 2018-01-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011842 | Abnormality of skeletal morphology | |
| HP:0001290 | Generalized hypotonia | |
| HP:0003198 | Myopathy | |
| HP:0000467 | Neck muscle weakness | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0002650 | Scoliosis | |
| HP:0003306 | Spinal rigidity | |
| Frequent (79-30%) | ||
| HP:0030878 | Abnormality on pulmonary function testing | |
| HP:0031546 | Cardiac conduction abnormality | |
| HP:0002987 | Elbow flexion contracture | |
| HP:0003089 | Hamstring contractures | |
| HP:0003273 | Hip contracture | |
| HP:0003307 | Hyperlordosis | |
| HP:0001265 | Hyporeflexia | |
| HP:0002090 | Pneumonia | |
| HP:0002421 | Poor head control | |
| HP:0003202 | Skeletal muscle atrophy | |
| Occasional (29-5%) | ||
| HP:0001263 | Global developmental delay | |
| HP:0003391 | Gowers sign | |
| HP:0002515 | Waddling gait | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 10665485[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/97244
- This record as JSON: /data/d/97244.json