Spinal muscular atrophy with respiratory distress type 1
Synonyms: Autosomal recessive distal spinal muscular atrophy type 1 · Autosomal recessive spinal muscular atrophy with respiratory distress · Diaphragmatic spinal muscular atrophy · Distal hereditary motor neuropathy type 6 · Distal-HMN type 6 · SIANRF · SMARD1 · Severe infantile axonal neuropathy with respiratory failure type 1 · dHMN6 · dSMA1
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinal muscular atrophy with respiratory distress type 1 | Autosomal recessive distal spinal muscular atrophy type 1 · Autosomal recessive spinal muscular atrophy with respiratory distress · Diaphragmatic spinal muscular atrophy · Distal hereditary motor neuropathy type 6 · Distal-HMN type 6 · SIANRF · SMARD1 · Severe infantile axonal neuropathy with respiratory failure type 1 · dHMN6 · dSMA1 |
| fr | Amyotrophie spinale avec détresse respiratoire type 1 | Amyotrophie spinale autosomique récessive avec détresse respiratoire · Amyotrophie spinale diaphragmatique type 1 · Amyotrophie spinale distale autosomique récessive type 1 · Atrophie musculaire spinale distale autosomique récessive type 1 · Neuropathie axonale infantile sévère avec insuffisance respiratoire type 1 · Neuropathie motrice distale héréditaire type 6 · SIANRF · SMARD1 · dHMN6 · dSMA1 |
| de | Spinale Muskelatrophie mit Atemnot Typ 1 | Autosomal-rezessive distale spinale Muskelatrophie Typ 1 · Distale HMN Typ 6 · Neuropathie, distale hereditäre motorische, Typ 6 · SIANRF · SMA mit Atemnot · SMARD1 · Schwere infantile axonale Neuropathie mit Atemversagen · Spinale Muskelatrophie, diaphragmatische · dHMN6 · dSMA1 |
| es | Atrofia muscular espinal con dificultad respiratoria tipo 1 | Atrofia muscular espinal autosómica recesiva con dificultad respiratoria · Atrofia muscular espinal con distrés respiratorio tipo 1 · Atrofia muscular espinal diafragmática · Neuropatía axonal grave del lactante con insuficiencia respiratoria tipo 1 · Neuropatía motora distal hereditaria tipo 6 · dHMN6 · dSMA1 |
| it | Atrofia muscolare spinale con distress respiratorio, tipo 1 | Atrofia muscolare spinale autosomica recessiva con distress respiratorio · Atrofia muscolare spinale diaframmatica · Atrofia muscolare spinale distale, autosomica recessiva, tipo 1 · HMN distale, tipo 6 · Neuropatia assonale infantile grave con insufficienza respiratoria, tipo 1 · Neuropatia motoria ereditaria distale, tipo 6 · SIANRF · SMARD1 · dHMN6 · dSMA1 |
| nl | Spinale spieratrofie met ademhalingsnood type 1 | Autosomaal recessieve distale spinale spieratrofie type 1 · Autosomaal recessieve spinale spieratrofie met ademnood · Diafragmatische spinale spieratrofie · Distale HMN type 6 · Distale hereditaire motorische neuropathie type 6 · Ernstige infantiele axonale neuropathie met respiratoir falen type 1 · SIANRF · SMARD1 · dHMN6 · dSMA1 |
| pt | Atrofia muscular espinhal com dificuldade respiratória tipo 1 | |
| pl | Rdzeniowy zanik mięśni z niewydolnością oddechową typu 1 | Autosomal recessive distal spinal muscular atrophy type 1 · Autosomalny recesywny dystalny rdzeniowy zanik mięśni typu 1 · Autosomalny recesywny rdzeniowy zanik mięśni z niewydolnością oddechową · dHMN6 · dSMA1 · Dystalna dziedziczna neuropatia ruchowa typu 6 · Dystalna-HMN typu 6 · Rdzeniowy zanik mięśni przepony · SIANRF · SMARD1 |
| cs | Spinální svalová atrofie s respirační tísní, typ 1 | Autozomálne recesivní spinální svalová atrofie s respiracní tísní · Diafragmatická spinální svalová atrofie · Distální hereditární motorická neuropatie, typ 6 · Distální HMN, typ 6 · SIANRF · SMARD1 · dHMN6 · dSMA1 · Autozomálně recesivní distální spinální svalová atrofie, typ 1 · Autozomálně recesivní spinální svalová atrofie s respirační tísní · Těžká infantilní axonální neuropatie s respiračním selháním, typ 1 |
| uk | Спінальна мязова атрофія з респіраторним дистрессом, тип 1 | Аутосомно-рецесивна дистальна спінальна мязова атрофія, тип 1 · Аутосомно-рецесивна спінальна мязова атрофія з дихальними розладами · dHMN6 · Атрофія діафрагмальних мязів хребта · Дистальна спадкова моторна нейропатія типу 6 · Дистальний HMN тип 6 · dSMA1 · Тяжка дитяча аксональна нейропатія з дихальною недостатністю 1-го типу · SIANRF · SMARD1 |
| zh | 脊髓性肌萎缩症伴呼吸窘迫1型 | 常染色体隐性遗传脊髓性肌肉萎缩伴呼吸衰竭 |
| tr | Solunum sıkıntısı tip 1ile seyreden spinal kas atrofisi | dHMN6 · dSMA1 · SIANRF · SMARD1 · Distal-HMN tip 6 · Diyafragmatik spinal kas atrofisi · Distal kalıtsal motor nöropati tip 6 · Otozomal Çekinik distal spinal kas atrofisi tip 1 · Solunum yetmezliği tip 1 ile ağır infantil aksonal nöropati · Solunum sıkıntısı ile birlikte otozomal çekinik spinal kas atrofi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604320 | E | validated | |
| ICD-10 | G12.2 | NTBT | attributed | validated |
| ICD-11 | 8B61.0 | NTBT | index | validated |
| MONDO | 0011436 | E | validated | |
| MeSH | C536880 | E | validated | |
| UMLS | C1858517 | E | validated | |
| GARD | 8592 | 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:140468Autosomal recessive 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 |
|---|---|---|---|---|---|---|---|---|
| IGHMBP2 | Disease-causing germline mutation(s) in | Assessed | HGNC:5542 | ENSG00000132740 | 600502 | 11q13.3 | immunoglobulin mu DNA binding protein 2 | 11528396[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 128 cases | Worldwide | Case(s) | Validated | 26709713[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26709713[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/98920
- This record as JSON: /data/d/98920.json