Charcot-Marie-Tooth disease type 4
Synonyms: AR-CMT1 · Autosomal recessive demyelinating Charcot-Marie-Tooth · CMT4
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A group of autosomal recessive demyelinating Charcot-Marie-Tooth disease (CMT) characterized by progressive, distally accentuated weakness and atrophy of muscles innervated by the peroneal nerve in the lower limbs, followed by weakness and atrophy of hands, sensory loss, and characteristic foot abnormalities. CMT4 is usually more severe than other forms of CMT, and the onset occurs earlier.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Charcot-Marie-Tooth disease type 4 | AR-CMT1 · Autosomal recessive demyelinating Charcot-Marie-Tooth · CMT4 |
| fr | Maladie de Charcot-Marie-Tooth type 4 | AR-CMT1 · CMT4 · Maladie de Charcot-Marie-Tooth démyélinisante autosomique récessive |
| de | Charcot-Marie-Tooth-Krankheit Typ 4 | AR-CMT1 · CMT4 · Charcot-Marie-Tooth, demyeliniserend, autosomal-rezessiv |
| es | Enfermedad de Charcot-Marie-Tooth tipo 4 | |
| it | Malattia di Charcot-Marie-Tooth, tipo 4 | AR-CMT1 · CMT4 · Malattia di Charcot-Marie-Tooth demielinizzante, autosomica recessiva |
| nl | Ziekte van Charcot-Marie-Tooth type 4 | AR-CMT1 · Autosomaal recessieve demyeliniserende ziekte van Charcot-Marie-Tooth · CMT4 |
| pt | Doença de Charcot-Marie-Tooth tipo 4 | CMT4 |
| pl | Choroba Charcot, Marie i Tooth typu 4 | AR-CMT1 · Autosomalna recesywna demielinizująca choroba Charcot, Marie i Tooth · CMT4 |
| cs | Charcotova-Marieova-Toothova nemoc, typ 4 | AR-CMT1 · CMT4 · Autozomálně recesivní demyelinizační Charcotova-Marieova-Toothova nemoc · Charcot-Marie-Toothova nemoc, typ 4 · Autozomálně recesivní demyelinizační Charcot-Marie-Toothova nemoc |
| uk | Хвороба Шарко-Марі-Тута, тип 4 | AR-CMT1 · Аутосомно-рецесивна демієлінізуюча хвороба Шарко-Марі-Тута · CMT4 |
| zh | 腓骨肌萎缩症4型 | 常染色体隐性遗传性脱髓鞘Charcot-Marie-Tooth病 |
| tr | Charcot-Marie-Tooth hastalığı tip 4 | CMT4 · AR-CMT1 · Otozomal Çekinik demiyelinizan Charcot-Marie-Tooth |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 8C20.0 | NTBT | index | validated |
| MONDO | 0018995 | E | validated | |
| MONDO | 18995 | E | validated | |
| UMLS | C4082197 | E | validated | |
| GARD | 12440 | 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:140459Autosomal recessive hereditary demyelinating motor and sensory neuropathy
rare genetic diseases; rare neurological diseases
Children (12):
- ORPHA:99948Charcot-Marie-Tooth disease type 4A
- ORPHA:99955Charcot-Marie-Tooth disease type 4B1
- ORPHA:99956Charcot-Marie-Tooth disease type 4B2
- ORPHA:363981Charcot-Marie-Tooth disease type 4B3
- ORPHA:99949Charcot-Marie-Tooth disease type 4C
- ORPHA:99950Charcot-Marie-Tooth disease type 4D
- ORPHA:99951Charcot-Marie-Tooth disease type 4E
- ORPHA:99952Charcot-Marie-Tooth disease type 4F
- ORPHA:99953Charcot-Marie-Tooth disease type 4G
- ORPHA:99954Charcot-Marie-Tooth disease type 4H
- ORPHA:139515Charcot-Marie-Tooth disease type 4J
- ORPHA:391351SURF1-related Charcot-Marie-Tooth disease type 4
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | — | Europe | 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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/64749
- This record as JSON: /data/d/64749.json