ORPHA:357043
Amyotrophic lateral sclerosis type 4
Synonyms: ALS4 · Distal hereditary motor neuropathy with upper motor neuron signs · dHMN with upper motor neuron signs
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Childhood
- Status
- active
A rare genetic motor neuron disease characterized by late childhood- or adolescent-onset of slowly progressive, severe, distal limb muscle weakness and wasting, in association with pyramidal signs, normal sensation, and absence of bulbar involvement, leading to degeneration of motor neurons in the brain and spinal cord.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Amyotrophic lateral sclerosis type 4 | ALS4 · Distal hereditary motor neuropathy with upper motor neuron signs · dHMN with upper motor neuron signs |
| fr | Sclérose latérale amyotrophique type 4 | ALS4 · Neuropathie motrice distale avec atteinte des motoneurones supérieurs · SLA4 · dHMN avec atteinte des motoneurones supérieurs · dHMN avec atteinte des neurones moteurs supérieurs |
| de | Amyotrophe Lateralsklerose Typ 4 | ALS4 · Neuropathie, distale hereditäre motorische, mit oberen Motoneuron-Signalen · dHMN mit oberen Motoneuron-Signalen |
| es | Esclerosis lateral amiotrófica tipo 4 | ALS4 · Neuropatía motora distal hereditaria con signos de la motoneurona superior · dHMN con signos de la motoneurona superior |
| it | Sclerosi laterale amiotrofica tipo 4 | ALS4 · Neuropatia motoria ereditaria distale con segni del motoneurone superiore · dHMN con segni del motoneurone superiore |
| nl | Amyotrofische laterale sclerose type 4 | ALS4 · Amyotrofe laterale sclerose type 4 · Distale hereditaire motorneuropathie met tekenen van hogere motorneuronen · dHMN met tekenen van de hogere motorneuronen |
| pt | Esclerose lateral amiotrófica, tipo 4 | |
| pl | Stwardnienie zanikowe boczne typu 4 | ALS4 · dHMN z objawami górnego neuronu ruchowego · Dystalna dziedziczna neuropatia ruchowa z objawami górnego neuronu ruchowego |
| cs | Amyotrofická laterální skleróza, typ 4 | ALS4 · Distální hereditární motorická neuropatie s příznaky léze horního motoneuronu · dHMN s příznaky léze horního motoneuronu |
| uk | Бічний аміотрофічний склероз, тип 4 | ALS4 · dHMN з ознаками верхнього моторного нейрона · Дистальна спадкова моторна нейропатія з ознаками верхніх моторних нейронів |
| zh | 肌萎缩性脊髓侧索硬化症4型 | 远端遗传性运动神经病伴有上运动神经元体征 |
| tr | Amyotrofik lateral skleroz tip 4 | ALS4 · Üst motor nöron belirtileri ile seyreden dHMN · Üst motor nöron belirtileri ile seyreden distal kalıtsal motor nöropati |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 602433 | E | validated | |
| ICD-10 | G12.2 | NTBT | attributed | validated |
| ICD-11 | 8B60.0 | NTBT | attributed | validated |
| MONDO | 0011223 | E | validated | |
| MeSH | C566550 | E | validated | |
| UMLS | C1865409 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:98505Genetic motor neuron disease
rare genetic diseases; rare neurological diseases - ORPHA:183500Genetic neurodegenerative disease
rare genetic diseases - ORPHA:182070Rare neurodegenerative disease
rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SETX | Disease-causing germline mutation(s) in | Assessed | HGNC:445 | ENSG00000107290 | 608465 | 9q34.13 | senataxin | 15106121[PMID]_15478096[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 70 cases | Worldwide | Case(s) | Validated | 9497266[PMID]_12023320[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_9497266[PMID]_12023320[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.
6
HPO phenotypes
8 annotations · validated 2018-07-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0003487 | Babinski sign | |
| HP:0002460 | Distal muscle weakness | |
| HP:0003202 | Skeletal muscle atrophy | |
| Occasional (29-5%) | ||
| HP:0001288 | Gait disturbance | |
| HP:0001761 | Pes cavus | |
| HP:0003474 | Somatic sensory dysfunction | |
| HP:0001258 | Spastic paraplegia | |
Annotation source: 15106121[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/357043
- This record as JSON: /data/d/357043.json