Hereditary motor and sensory neuropathy with acrodystrophy
Synonyms: AR-CMT2 with acrodystrophy · Autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy · Autosomal recessive axonal Charcot-Marie-Tooth disease with acrodystrophy · HMSN with acrodystrophy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Status
- active
Hereditary motor and sensory neuropathy with acrodystrophy is a rare axonal hereditary motor and sensory neuropathy characterized by progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary motor and sensory neuropathy with acrodystrophy | AR-CMT2 with acrodystrophy · Autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy · Autosomal recessive axonal Charcot-Marie-Tooth disease with acrodystrophy · HMSN with acrodystrophy |
| fr | Neuropathie sensitivo-motrice axonale héréditaire avec acrodystrophie | AR-CMT2 avec acrodystrophie · HMSN avec acrodystrophie · Maladie de Charcot-Marie-Tooth axonale autosomique récessive avec acrodystrophie · Maladie de Charcot-Marie-Tooth type 2 autosomique récessive avec acrodystrophie |
| de | Neuropathie, hereditäre motorisch-sensorische, mit Akrodystrophie | AR-CMT2 mit Akrodystrophie · Autosomal-rezessive axonale Charcot-Marie-Tooth-Krankheit mit Akrodystrophie · Charcot-Marie-Tooth-Krankheit, autosomal-rezessive, Typ 2, mit Akrodystrophie |
| es | Neuropatía sensitivo-motora hereditaria con acrodistrofia | CMT2-AR con acrodistrofia · Enfermedad de Charcot-Marie-Tooth autosómica recesiva tipo 2 con acrodistrofia · Enfermedad de Charcot-Marie-Tooth axonal autosómica recesiva con acrodistrofia · HMSN con acrodistrofia |
| it | Neuropatia motoria e sensoriale ereditaria con acrodistrofia | AR-CMT2 con acrodistrofia · HMSN con acrodistrofia · Malattia di Charcot-Marie-Tooth autosomica recessiva con acrodistrofia · Malattia di Charcot-Marie-Tooth autosomica recessiva, tipo 2, con acrodistrofia |
| nl | Hereditaire motorische en sensorische neuropathie met acrodystrofie | AR-CMT2 met acrodystrofie · Autosomaal recessieve axonale ziekte van Charcot-Marie-Tooth met acrodystrofie · Autosomaal recessieve ziekte van Charcot-Marie-Tooth type 2 met acrodystrofie · HMSN met acrodystrofie |
| pt | Neuropatia sensitiva e motora hereditária com acrodistrofia | Charcot-Marie-Tooth axonal com acrodistrofia |
| pl | Dziedziczna neuropatia ruchowo-czuciowa z akrodystrofią | AR-CMT2 z akrodystrofią · Autosomalna recesywna aksonalna choroba Charcota, Mariego i Tootha z akrodystrofią · Autosomalna recesywna choroba Charcota, Mariego i Tootha typu 2 z akrodystrofią · HMSN z akrodystrofią |
| cs | Hereditární motorická a senzorická neuropatie s akrodystrofií | AR-CMT2 s akrodystrofií · HMSN s akrodystrofií · Autozomálně recesivní Charcotova-Marieova-Toothova nemoc s akrodystrofií · Autozomálně recesivní axonální Charcotova-Marieova-Toothova nemoc s akrodystrofií · Autozomálně recesivní Charcot-Marie-Toothova nemoc s akrodystrofií · Autozomálně recesivní axonální Charcot-Marie-Toothova nemoc s akrodystrofií |
| uk | Спадкова моторна та сенсорна нейропатія з акродистрофією | AR-CMT2 з акродистрофією · Аутосомно-рецесивна аксональна хвороба Шарко-Марі-Тута з акродистрофією · Аутосомно-рецесивна хвороба Шарко-Марі-Тута типу 2 з акродистрофією · ГМСН з акродистрофією |
| zh | 遗传性运动感觉神经病伴肢端营养不良 | 常染色体隐性遗传性轴索型Charcot-Marie-Tooth病伴肢端营养不良 |
| tr | Akrodistrofi ile seyreden kalıtsal motor ve duyusal nöropati | Akrodistrofi ile seyreden HMSN · Akrodistrofi ile seyreden AR-CMT2 · Akrodistrofi ile seyreden otozomal Çekinik Charcot-Marie-Tooth tip 2 · Akrodistrofi ile seyreden otozomal Çekinik aksonal Charcot-Marie-Tooth hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.1 | NTBT | index | validated |
| MONDO | 0019550 | E | validated | |
| UMLS | C4749729 | 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:91024Autosomal recessive axonal hereditary motor and sensory neuropathy
rare genetic diseases; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90119
- This record as JSON: /data/d/90119.json