ORPHA:1145
Infantile-onset X-linked spinal muscular atrophy
Synonyms: SMAX2 · Spinal muscular atrophy with arthrogryposis · X-linked distal arthrogryposis multiplex congenita · X-linked spinal muscular atrophy type 2
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Neonatal
- Status
- active
A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements <i>in utero</i> and followed by bone fractures shortly after birth. Muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Infantile-onset X-linked spinal muscular atrophy | SMAX2 · Spinal muscular atrophy with arthrogryposis · X-linked distal arthrogryposis multiplex congenita · X-linked spinal muscular atrophy type 2 |
| fr | Amyotrophie spinale infantile liée à l'X | ASX2 · Amyotrophie spinale avec arthrogrypose · Amyotrophie spinale liée à l'X type 2 · Arthrogrypose distale liée à l'X · SMAX2 |
| de | Spinale Muskelatrophie, infantile, X-chromosomale | SMAX2 · Spinale Muskelatrophie mit Arthrogrypose · Spinale Muskelatrophie, X-chromosomale, Typ 2 · X-chromosomale distale Arthrogryposis multiplex congenita |
| es | Atrofia muscular espinal de inicio en el lactante ligada al cromosoma X | Artrogriposis con atrofia muscular espinal · Artrogriposis distal múltiple congénita ligada al cromosoma X · Atrofia muscular espinal asociada a SMAX2 · Atrofia muscular espinal ligada al cromosoma X tipo 2 · SMAX2 |
| it | Artrogriposi multipla congenita distale legata all'X | Atrofia muscolare spinale SMAX2-correlata · Atrofia muscolare spinale con artrogriposi · Atrofia muscolare spinale infantile legata all'X · Atrofia muscolare spinale legata all'X, tipo 2 · SMAX2 |
| nl | Infantiele X-gebonden spinale musculaire atrofie | SMAX2 · Spinale spieratrofie met artrogrypose · X-gebonden distale arthrogryposis multiplex congenita · X-gebonden spinale musculaire atrofie type 2 · X-gebonden spinale spieratrofie type 2 |
| pt | Atrofia muscular espinhal ligada ao X de início na infância | Artrogripose distal múltipla congénita ligada ao X |
| pl | Niemowlęcy rdzeniowy zanik mięśni sprzężony z chromosomem X | Dziecięcy rdzeniowy zanik mięśni sprzężony z chromosomem X · Rdzeniowy zanik mięśni zależny od SMAX2 · Rdzeniowy zanik mięśni typu 2 sprzężony z chromosomem X · Rdzeniowy zanik mięśni z artrogrypozą · SMAX2 · SMAX2 · Rdzeniowy zanik mięśni typu 2 sprzężony z chromosomem X · Rdzeniowy zanik mięśni z artrogrypozą · Dystalna artrogrypoza sprzężona z chromosomem X |
| cs | X-vázaná distální arthrogryposis multiplex congenita | SMAX2 · SMAX2-vázaná spinální svalová atrofie · Spinální svalová atrofie s artrogrypózou · X-vázaná infantilní spinální svalová atrofie · X-vázaná spinální svalová atrofie, typ 2 |
| uk | Х-зчеплена спінальна мязова атрофія, що починається в дитинстві | SMAX2 · Спінальна мязова атрофія з артрогрипозом · Х-зчеплений дистальний артрогрипоз множинний вроджений · Х-зчеплена спінальна мязова атрофія, тип 2 |
| zh | 婴儿发病型X-连锁脊髓性肌萎缩症 | X连锁先天性多发远端关节挛缩 |
| tr | İnfantil başlangıçlı X'e bağlı spinal müsküler atrofi | SMAX2 · X'e bağlı spinal kas atrofisi tip 2 · Artrogripozisli spinal kas atrofisi · X'e bağlı distal artrogripozis multipleks konjenita |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 301830 | E | validated | |
| ICD-10 | G12.1 | NTBT | attributed | validated |
| ICD-11 | 8B61.Y | NTBT | attributed | validated |
| MONDO | 0010532 | E | validated | |
| MeSH | C535380 | E | validated | |
| UMLS | C1844934 | E | validated | |
| GARD | 8521 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:1037Arthrogryposis multiplex congenita
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:404538X-linked distal hereditary motor neuropathy
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| UBA1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:12469 | ENSG00000130985 | 314370 | Xp11.3 | ubiquitin like modifier activating enzyme 1 | 18179898[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 14 families | Worldwide | Family(ies) | Validated | 20301739[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20301739[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.
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HPO phenotypes
37 annotations · validated 2021-07-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006802 | Abnormal anterior horn cell morphology | |
| HP:0004303 | Abnormal muscle fiber morphology | |
| HP:0001284 | Areflexia | |
| HP:0002398 | Degeneration of anterior horn cells | |
| HP:0003445 | EMG: neuropathic changes | |
| HP:0002033 | Poor suck | |
| HP:0003202 | Skeletal muscle atrophy | |
| Frequent (79-30%) | ||
| HP:0002425 | Anarthria | |
| HP:0006466 | Ankle flexion contracture | |
| HP:0002804 | Arthrogryposis multiplex congenita | |
| HP:0020110 | Bone fracture | |
| HP:0000887 | Cupped ribs | |
| HP:0002987 | Elbow flexion contracture | |
| HP:0008947 | Floppy infant | |
| HP:0000218 | High palate | |
| HP:0003273 | Hip contracture | |
| HP:0009071 | Inflammatory myopathy | |
| HP:0001220 | Interphalangeal joint contracture of finger | |
| HP:0006380 | Knee flexion contracture | |
| HP:0002058 | Myopathic facies | |
| HP:0003701 | Proximal muscle weakness | |
| HP:0002098 | Respiratory distress | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0000773 | Short ribs | |
| HP:0007269 | Spinal muscular atrophy | |
| Occasional (29-5%) | ||
| HP:0002518 | Abnormal periventricular white matter morphology | |
| HP:0000028 | Cryptorchidism | |
| HP:0002460 | Distal muscle weakness | |
| HP:0001290 | Generalized hypotonia | |
| HP:0003324 | Generalized muscle weakness | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0008180 | Mildly elevated creatine kinase | |
| HP:0007178 | Motor polyneuropathy | |
| HP:0002009 | Potter facies | |
| HP:0001308 | Tongue fasciculations | |
| HP:0030319 | Weakness of facial musculature | |
| Very rare (<4-1%) | ||
| HP:0100543 | Cognitive impairment | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 31932168[PMID]_32181232[PMID]_23518311[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1145
- This record as JSON: /data/d/1145.json