Autosomal recessive lower motor neuron disease with childhood onset
Synonyms: Autosomal recessive distal spinal muscular atrophy type 4 · Distal spinal muscular atrophy type 4 · dSMA4
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive lower motor neuron disease with childhood onset | Autosomal recessive distal spinal muscular atrophy type 4 · Distal spinal muscular atrophy type 4 · dSMA4 |
| fr | Maladie du motoneurone inférieur autosomique récessive de l'enfance | Amyotrophie spinale distale autosomique récessive type 4 · Amyotrophie spinale distale type 4 · dSMA4 |
| de | Vorderhornerkrankung, autosomal-rezessive, des Kindes | DSMA4 · Muskelatrophie, distale spinale, Typ 4 |
| es | Enfermedad de la motoneurona inferior autosómica recesiva de la infancia | Atrofia espinal distal autosómica recesiva tipo 4 · Atrofia muscular espinal distal tipo 4 · DSMA4 |
| it | Malattia dei motoneuroni inferiori autosomica recessiva ad esordio infantile | Atrofia muscolare spinale distale, autosomica recessiva, tipo 4 · Atrofia muscolare spinale distale, tipo 4 · DSMA4 |
| nl | Autosomaal recessieve lage motorneuronziekte met aanvang in de kindertijd | Autosomaal recessieve distale spinale spieratrofie type 4 · DSMA4 · Distale spinale spieratrofie type 4 |
| pt | Doença do segundo neurónio motor, autossómica recessiva, com apresentação na infância | |
| pl | Autosomalna recesywna choroba dolnego neuronu ruchowego o początku w wieku dziecięcym | Autosomalny recesywny dystalny rdzeniowy zanik mięśni typu 4 · dSMA4 · Dystalny rdzeniowy zanik mięśni typu 4 |
| cs | Autozomálně recesivní onemocnění dolního motoneuronu s počátkem v dětství | Distální spinální svalová atrofie, typ 4 · dSMA4 · Autozomálně recesivní distální spinální svalová atrofie, typ 4 |
| uk | Аутосомно-рецесивне захворювання нижніх моторних нейронів, що починається в дитячому віці | Аутосомно-рецесивна дистальна спінальна мязова атрофія, тип 4 · Дистальна спінальна мязова атрофія, тип 4 · dSMA4 |
| zh | 儿童起病常染色体隐性下运动神经元病 | 常染色体隐性遗传远端脊髓性肌萎缩4型 |
| tr | Çocukluk çağında başlayan otozomal resesif alt motor nöron hastalığı | dSMA4 · Distal spinal kas atrofisi tip 4 · Otozomal çekinik distal spinal müsküler atrofi tip 4 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611067 | E | validated | |
| ICD-10 | G12.2 | NTBT | attributed | validated |
| ICD-11 | 8B61.4 | NTBT | index | validated |
| MONDO | 0012608 | E | validated | |
| MeSH | C567023 | E | validated | |
| UMLS | C1970211 | 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:206710Generalized bulbospinal muscular atrophy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PLEKHG5 | Disease-causing germline mutation(s) in | Assessed | HGNC:29105 | ENSG00000171680 | 611101 | 1p36.31 | pleckstrin homology and RhoGEF domain containing G5 | 17564964[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 16728649[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_16728649[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/206580
- This record as JSON: /data/d/206580.json