Autosomal dominant childhood-onset proximal spinal muscular atrophy
Synonyms: Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy · SMALED
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Antenatal, Childhood, Infancy, Neonatal
- Status
- active
A rare genetic neuromuscular disease characterized by early onset muscular weakness with predominant proximal lower limb involvement. The disorder is static or only mildly progressive. The severity of manifestations ranges from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant childhood-onset proximal spinal muscular atrophy | Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy · SMALED |
| fr | Amyotrophie spinale proximale autosomique dominante de l'enfance | Amyotrophie spinale proximale autosomique dominante de l'enfance avec prédominance des membres inférieurs · SMALED |
| de | Proximale spinale Muskelatrophie mit Beginn im Kindesalter, autosomal-dominant | Proximale spinale Muskelatrophie vorwiegend der unteren Extremitäten, autosomal-dominant · SMALED |
| es | Atrofia muscular espinal proximal autosómica dominante de inicio en la infancia | Atrofia muscular espinal proximal autosómica dominante con predominancia de las extremidades inferiores · SMALED |
| it | Atrofia muscolare spinale prossimale autosomica dominante ad esordio nell'infanzia | Atrofia muscolare spinale prossimale, autosomica dominante, con coinvolgimento prevalente degli arti inferiori · SMALED |
| nl | Autosomaal dominante proximale spinale spieratrofie met aanvang in de kindertijd | SMALED · Autosomaal dominante proximale spinale spieratrofie van overwegend onderste ledematen |
| pt | Atrofia muscular espinhal proximal autossómica dominante de início na infância | |
| pl | Autosomalny dominujący proksymalny rdzeniowy zanik mieśni o początku w wieku dziecięcym | Autosomalny dominujący proksymalny rdzeniowy zanik mieśni dominujący w kończynach dolnych · SMALED |
| cs | Autozomálně dominantní proximální spinální svalová atrofie s nástupem v dětství | SMALED · Autozomálně dominantní proximální spinální svalová atrofie, predominantně na dolních končetinách |
| uk | Аутосомно-домінантна проксимальна спінальна мязова атрофія, що починається в дитячому віці | Аутосомно-домінантна проксимальна спінальна мязова атрофія з переважним ураженням нижніх кінцівок · SMALED |
| zh | 儿童起病常染色体显性近端脊髓性肌萎缩症 | 下肢为主的常染色体显性遗传性近端脊髓肌萎缩症 |
| tr | Otozomal dominant çocukluk çağında başlayan proksimal spinal kas atrofisi | SMALED · Alt ekstremite baskın otozomal dominant proksimal spinal kas atrofi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 158600 | BTNT | validated | |
| OMIM | 615290 | BTNT | validated | |
| ICD-10 | G12.1 | NTBT | attributed | validated |
| ICD-11 | 8B61.Y | NTBT | index | validated |
| MONDO | 0018190 | E | validated | |
| UMLS | C1834690 | 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:211037Autosomal dominant proximal spinal muscular atrophy
rare genetic diseases; rare neurological diseases
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| BICD2 | ORPHA:363454BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy | Disease-causing germline mutation(s) in | Assessed | HGNC:17208 | ENSG00000185963 | 609797 | 9q22.31 | BICD cargo adaptor 2 | 23664119[PMID] |
| DYNC1H1 | ORPHA:209341DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy | Disease-causing germline mutation(s) in | Assessed | HGNC:2961 | ENSG00000197102 | 600112 | 14q32.31 | dynein cytoplasmic 1 heavy chain 1 | 22459677[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20697106[PMID]_22459677[PMID]_22847149[PMID]_26594138[PMID]_26998597[PMID]_27784775[PMID] |
| Cases/families | 97 cases | Worldwide | Case(s) | Validated | 20697106[PMID]_22459677[PMID]_22847149[PMID]_26594138[PMID]_26998597[PMID]_27784775[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/363447
- This record as JSON: /data/d/363447.json