Hereditary motor and sensory neuropathy type 5
Synonyms: Charcot-Marie-Tooth disease-pyramidal features syndrome · HMSN 5 · HMSN V · Hereditary motor and sensory neuropathy type V
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary motor and sensory neuropathy type 5 | Charcot-Marie-Tooth disease-pyramidal features syndrome · HMSN 5 · HMSN V · Hereditary motor and sensory neuropathy type V |
| fr | Neuropathie sensitivo-motrice héréditaire type 5 | Neuropathie sensitivo-motrice héréditaire type V · Syndrome de maladie de Charcot-Marie-Tooth-signes pyramidaux |
| de | Neuropathie, hereditäre motorisch-sensorische, Typ 5 | Charcot-Marie-Tooth-Krankheit - pyramidale Störungen · HMSN 5 · HMSN V · Neuropathie, hereditäre motorisch-sensorische, Typ V |
| es | Neuropatía sensitivo-motora hereditaria tipo 5 | HMSN 5 · HMSN V · Neuropatía hereditaria sensitivo-motora tipo V · Síndrome de enfermedad de Charcot-Marie-Tooth-signos piramidales |
| it | Neuropatia motoria e sensoriale ereditaria tipo 5 | HMSN 5 · Malattia di Charcot-Marie-Tooth - segni piramidali |
| nl | Hereditaire motorische en sensorische neuropathie type 5 | Erfelijke motorische en sensorische neuropathie type V · HMSN 5 · HMSN V · Ziekte van Charcot-Marie-Tooth - piramidale kenmerken-syndroom |
| pt | Neuropatia sensitiva e motora hereditária tipo 5 | Doença de Charcot-Marie-Tooth-sinais piramidais · HMSN 5 |
| pl | Dziedziczna neuropatia ruchowo-czuciowa typu 5 | Choroba Charcot, Marie i Tooth - objawy piramidowe · HMSN 5 |
| cs | Hereditární motorická a sensorická neuropatie, typ 5 | HMSN 5 · Syndrom zahrnující Charcotovu-Marieovu-Toothovu nemoc a pyramidové příznaky · Syndrom zahrnující Charcot-Marie-Toothovu nemoc a pyramidové příznaky |
| uk | Спадкова моторна та сенсорна нейропатія, тип 5 | Хвороба Шарко-Марі-Тута - синдром пірамідальних ознак · Спадкова моторна та сенсорна нейропатія типу V · HMSN 5 · HMSN V |
| zh | 遗传性运动感觉性神经病5型 | Charcot-Marie-Tooth病-金字塔征综合征 |
| tr | Kalıtsal motor ve duyusal nöropati tip 5 | HMSN 5 · HMSN V · Kalıtsal motor ve duyusal nöropati tip V · Charcot-Marie-Tooth hastalığı-piramidal özellikler sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600361 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.Y | NTBT | index | validated |
| MONDO | 0010877 | E | validated | |
| UMLS | C4721916 | E | validated | |
| GARD | 9208 | 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 |
|---|---|---|---|---|---|---|---|---|
| MFN2 | Disease-causing germline mutation(s) in | Assessed | HGNC:16877 | ENSG00000116688 | 608507 | 1p36.22 | mitofusin 2 |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 25 cases | Worldwide | Case(s) | Validated | 6707656[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 6707656[PMID]_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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/64751
- This record as JSON: /data/d/64751.json