Hereditary motor and sensory neuropathy, Okinawa type
Synonyms: HMSNP · Hereditary motor and sensory neuropathy, proximal type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary motor and sensory neuropathy, Okinawa type | HMSNP · Hereditary motor and sensory neuropathy, proximal type |
| fr | Neuropathie sensitivo-motrice héréditaire type Okinawa | Neuropathie sensitivo-motrice proximale familiale |
| de | Neuropathie, hereditäre motorisch-sensorische, Typ Okinawa | HMSNP · Neuropathie, hereditäre motorisch-sensorische, proximaler Typ |
| es | Neuropatía sensitivo-motora hereditaria, tipo Okinawa | HMSNP · Neuropatía hereditaria sensitivo-motora tipo proximal |
| it | Neuropatia sensitivo-motoria ereditaria, tipo Okinawa | HMSNP · Neuropatia sensitivo-motoria ereditaria, tipo prossimale |
| nl | Hereditaire motorische en sensorische neuropathie, Okinawa-type | HMSNP · Hereditaire motorische en sensorische neuropathie, proximaal type |
| pt | Neuropatia sensitiva e motora hereditária, tipo Okinawa | |
| pl | Dziedziczna neuropatia ruchowa i czuciowa typu Okinawy | Dziedziczna neuropatia ruchowa i czuciowa, typ proksymalny · HMSNP |
| cs | Hereditární motorická a senzorická neuropatie, typ Okinawa | HMSNP · Dědičná motorická a senzorická neuropatie, proximální typ |
| uk | Спадкова моторна та сенсорна нейропатія, тип Окінава | Спадкова моторна та сенсорна нейропатія, проксимальний тип · HMSNP |
| zh | 遗传性运动感觉神经病Okinawa型 | 遗传性运动感觉性神经病，近端型 |
| tr | Kalıtsal motor ve duyusal nöropati, Okinawa tipi | HMSNP · Kalıtsal motor ve duyusal nöropati, proksimal tip |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604484 | E | validated | |
| ICD-10 | G60.0 | NTBT | inclusion | validated |
| ICD-11 | 8C20.Y | NTBT | index | validated |
| MONDO | 0011468 | E | validated | |
| MeSH | C535717 | E | validated | |
| UMLS | C1858338 | E | validated | |
| GARD | 10131 | 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:140456Autosomal dominant hereditary axonal motor and sensory neuropathy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TFG | Disease-causing germline mutation(s) in | Assessed | HGNC:11758 | ENSG00000114354 | 602498 | 3q12.2 | trafficking from ER to golgi regulator | 22883144[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 120 cases | Worldwide | Case(s) | Validated | 22883144[PMID] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
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
28 annotations · validated 2021-02-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030179 | Abnormal peripheral action potential amplitude | |
| HP:0001284 | Areflexia | |
| HP:0012735 | Cough | |
| HP:0030200 | Fatiguable weakness of proximal limb muscles | |
| HP:0011964 | Intermittent painful muscle spasms | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0003474 | Somatic sensory dysfunction | |
| HP:0003484 | Upper limb muscle weakness | |
| Frequent (79-30%) | ||
| HP:0031910 | Abnormal cranial nerve physiology | |
| HP:0000079 | Abnormality of the urinary system | |
| HP:0002483 | Bulbar signs | |
| HP:0003698 | Difficulty standing | |
| HP:0002936 | Distal sensory impairment | |
| HP:0030007 | EMG: positive sharp waves | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0002540 | Inability to walk | |
| HP:0007289 | Limb fasciculations | |
| HP:0010546 | Muscle fibrillation | |
| HP:0001337 | Tremor | |
| Occasional (29-5%) | ||
| HP:0011014 | Abnormal glucose homeostasis | |
| HP:0010827 | Abnormality of the seventh cranial nerve | |
| HP:0011951 | Aspiration pneumonia | |
| HP:0002015 | Dysphagia | |
| HP:0002094 | Dyspnea | |
| HP:0410262 | Lower cranial nerve dysfunction | |
| HP:0011470 | Nasogastric tube feeding in infancy | |
| HP:0002878 | Respiratory failure | |
| HP:0004887 | Respiratory failure requiring assisted ventilation | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 25725944[PMID]_29552439[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90117
- This record as JSON: /data/d/90117.json