Facial onset sensory and motor neuronopathy
Synonyms: FOSMN syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Adult, Elderly
- Status
- active
Facial onset sensory and motor neuronopathy is characterised initially by paraesthesia and numbness in the region of the trigeminal nerve distribution, which later progresses to involve the scalp, neck, upper trunk and upper limbs. Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Facial onset sensory and motor neuronopathy | FOSMN syndrome |
| fr | Neuronopathie motrice et sensorielle à début facial | Syndrome FOSMN |
| de | Neuropathie, fazial beginnende, sensorische und motorische | FOSMN-Syndrom |
| es | Neuropatía sensitiva autonómica de inicio facial | Síndrome FOSMN |
| it | Neuropatia sensitivo-motoria a esordio facciale | Sindrome FOSMN |
| nl | Sensorische en motorische neuropathie met faciale aanvang | FOSMN-syndroom |
| pt | Neuronopatia sensitiva e motora de início na face | |
| pl | Neuropatia czuciowa i ruchowa rozpoczynająca się od twarzy | Zespół FOSMN |
| cs | Senzorická a motorická neuropatie počínající v obličeji | FOSMN syndrom |
| uk | Сенсорна та моторна нейронопатія, що починається з обличчя | Синдром FOSMN |
| zh | 面部首发型感觉和运动神经病 | FOSMN综合征 |
| tr | Yüz başlangıçlı duyusal ve motor nöronopati | FOSMN sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G60.0 | NTBT | attributed | validated |
| MONDO | 0019405 | E | validated | |
| UMLS | C4509818 | E | validated | |
| GARD | 12036 | 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 (2):
- ORPHA:183500Genetic neurodegenerative disease
rare genetic diseases - ORPHA:182070Rare neurodegenerative disease
rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 47 cases | Worldwide | Case(s) | Validated | 29781209[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_29781209[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
7 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001260 | Dysarthria | |
| HP:0002015 | Dysphagia | |
| HP:0002380 | Fasciculations | |
| HP:0003394 | Muscle spasm | |
| HP:0001324 | Muscle weakness | |
| HP:0003401 | Paresthesia | |
| HP:0003202 | Skeletal muscle atrophy | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 24643461[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85162
- This record as JSON: /data/d/85162.json