Spinal muscular atrophy with respiratory distress type 2
Synonyms: Diaphragmatic spinal muscular atrophy type 2 · SMARD2 · Severe infantile axonal neuropathy with respiratory failure type 2 · X-linked spinal muscular atrophy with respiratory distress
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Neonatal
- Status
- active
Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinal muscular atrophy with respiratory distress type 2 | Diaphragmatic spinal muscular atrophy type 2 · SMARD2 · Severe infantile axonal neuropathy with respiratory failure type 2 · X-linked spinal muscular atrophy with respiratory distress |
| fr | Amyotrophie spinale avec détresse respiratoire type 2 | Amyotrophie spinale diaphragmatique type 2 · Amyotrophie spinale liée à l'X avec détresse respiratoire · Neuropathie axonale infantile sévère avec insuffisance respiratoire type 2 · SMARD2 |
| de | Spinale Muskelatrophie mit Atemnot Typ 2 | SMARD2 · Schwere infantile axonale Neuropathie mit Atemversagen Typ 2 · Spinale Muskelatrophie, diaphragmatische, Typ 2 · X-chromosomale spinale Muskelatrophie mit Atemnot |
| es | Atrofia muscular espinal con insuficiencia respiratoria tipo 2 | Atrofia muscular espinal diafragmática tipo 2 · Atrofia muscular espinal ligada al cromosoma X con insuficiencia respiratoria · Neuropatía axonal infantil grave con insuficiencia respiratoria tipo 2 · SMARD2 |
| it | Atrofia muscolare spinale con distress respiratorio, tipo 2 | Atrofia muscolare diaframmatica, tipo 2 · Atrofia muscolare legata all'X con distress respiratorio · Neuropatia assonale infantile grave con insufficienza respiratoria, tipo 2 · SMARD2 |
| nl | Spinale spieratrofie met ademhalingsnood type 2 | Diafragmatische spinale spieratrofie type 2 · Ernstige infantiele axonale neuropathie met respiratoir falen type 2 · SMARD2 · X-gebonden spinale musculaire atrofie met respiratoire insufficiëntie |
| pt | Atrofia muscular espinhal com dificuldade respiratória tipo 2 | |
| pl | Rdzeniowy zanik mięśni z niewydolnością oddechową typu 2 | Ciężka dziecięca neuropatia aksonalna z niewydolnością oddechową typu 2 · Rdzeniowy zanik mięśni przepony typu 2 · Rdzeniowy zanik mięśni z niewydolnością oddechową sprzężony z chromosomem X · SMARD2 |
| cs | Spinální muskulární atrofie s respirační tísní, typ 2 | Diafragmatická spinální muskulární atrofie, typ 2 · SMARD2 · Těžká infantilní axonální neuropatie s respiračním selháním, typ 2 · X-vázaná spinální svalová atrofie s respirační tísní |
| uk | Спінальна мязова атрофія з респіраторним дистрес-синдромом, тип 2 | Діафрагмальна спінальна мязова атрофія, тип 2 · Тяжка дитяча аксональна нейропатія з дихальною недостатністю 2 типу · SMARD2 · Х-зчеплена спінальна мязова атрофія з дихальними розладами |
| zh | 脊髓性肌萎缩伴呼吸窘迫2型 | 严重的小儿轴索神经病伴呼吸衰竭2型 |
| tr | Solunum sıkıntısı tip 2 ile seyreden spinal müsküler atrofi | SMARD2 · Diyafragmatik spinal kas atrofisi tip 2 · Solunum sıkıntısı ile seyretmeyen X'e bağlı spinal müsküler atrofi · Solunum yetmezliği tip 2 ile seyretmeyen ağır infantil aksonal nöropati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G12.2 | NTBT | attributed | validated |
| MONDO | 0018450 | E | validated | |
| UMLS | C4749434 | 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:404538X-linked distal hereditary motor neuropathy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LAS1L | Disease-causing germline mutation(s) in | Assessed | HGNC:25726 | ENSG00000001497 | 300964 | Xq12 | LAS1 like ribosome biogenesis factor | 24647030[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 cases | Worldwide | Case(s) | Validated | 24647030[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24647030[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/404521
- This record as JSON: /data/d/404521.json