Distal hereditary motor neuropathy, Jerash type
Synonyms: Autosomal recessive distal spinal muscular atrophy type 2 · dHMNJ
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare, genetic, neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (such as brisk knee reflexes and positive Babinski sign) with absent ankle reflexes are initially associated but regress as disease stabilizes (~10 years after onset).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal hereditary motor neuropathy, Jerash type | Autosomal recessive distal spinal muscular atrophy type 2 · dHMNJ |
| fr | Neuropathie motrice distale héréditaire type Jerash | Amyotrophie spinale distale autosomique récessive type 2 · Atrophie musculaire spinale distale autosomique récessive type 2 · dHMNJ |
| de | Neuropathie, distale hereditäre motorische, Typ Jerash | dHMNJ |
| es | Neuropatía motora distal hereditaria tipo Jerash | Atrofia muscular espinal distal autosómica recesiva tipo 2 · dHMNJ |
| it | Neuropatia motoria ereditaria distale, tipo Jerash | Atrofia muscolare spinale distale autosomica recessiva, tipo 2 · dHMNJ |
| nl | Distale hereditaire motorische neuropathie, Jerash-type | Autosomaal recessieve distale spinale spieratrofie type 2 · dHMNJ |
| pt | Neuropatia, motora, distal, hereditária, tipo Jerash | |
| pl | Dystalna dziedziczna neuropatia ruchowa, typ Dżarasz | Autosomalny recesywny dystalny rdzeniowy zanik mięśni typu 2 · dHMNJ |
| cs | Distální hereditární motorická neuropatie, Jerash typ | dHMNJ · Autozomálně recesivní distální spinální svalová atrofie, typ 2 |
| uk | Дистальна спадкова моторна нейропатія, тип Джераша | Аутосомно-рецесивна дистальна спінальна мязова атрофія, тип 2 · dHMNJ |
| zh | Jerash型远端型遗传性运动神经病 | 常染色体隐性遗传远端脊髓性肌萎缩症2型 |
| tr | Distal kalıtsal motor nöropati, Jerash tipi | dHMNJ · Otozomal çekinik distal spinal kas atrofisi tip 2 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 605726 | E | validated | |
| ICD-10 | G12.2 | NTBT | attributed | validated |
| ICD-11 | 8B61.4 | NTBT | index | validated |
| MONDO | 0011585 | E | validated | |
| MeSH | C535715 | E | validated | |
| UMLS | C1854023 | E | validated | |
| GARD | 10133 | 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 |
|---|---|---|---|---|---|---|---|---|
| SIGMAR1 | Disease-causing germline mutation(s) in | Assessed | HGNC:8157 | ENSG00000147955 | 601978 | 9p13.3 | sigma non-opioid intracellular receptor 1 | 26078401[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | 11117544[PMID]_26078401[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_11117544[PMID]_26078401[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/139552
- This record as JSON: /data/d/139552.json