X-linked Charcot-Marie-Tooth disease type 2
Synonyms: CMTX2
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare genetic peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile-to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked Charcot-Marie-Tooth disease type 2 | CMTX2 |
| fr | Maladie de Charcot-Marie-Tooth liée à l'X type 2 | = en |
| de | Charcot-Marie-Tooth-Krankheit, X-chromosomale, Typ 2 | = en |
| es | Enfermedad de Charcot-Marie-Tooth ligada al cromosoma X tipo 2 | = en |
| it | Malattia di Charcot-Marie-Tooth legata all'X, tipo 2 | CMT2X · CMTX2 |
| nl | X-gebonden ziekte van Charcot-Marie-Tooth type 2 | = en |
| pt | Doença de Charcot-Marie-Tooth ligada ao X tipo 2 | |
| pl | Choroba Charcota, Mariego i Tootha typu 2 sprzężona z chromosomem X | CMT2X · CMTX2 |
| cs | X-vázaná Charcotova-Marieova-Toothova nemoc, typ 2 | CMTX2 · X-vázaná Charcot-Marie-Toothova nemoc, typ 2 |
| uk | Х-зчеплена хвороба Шарко-Марі-Тута, тип 2 | = en |
| zh | X连锁遗传夏科-马里-图斯病2型 | CMT2 |
| tr | X'e bağlı Charcot-Marie-Tooth hastalığı tip 2 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 302801 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | LD90.Y | NTBT | index | validated |
| MONDO | 0010550 | E | validated | |
| MeSH | C535302 | E | validated | |
| UMLS | C1844873 | 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:64747X-linked Charcot-Marie-Tooth disease
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare otorhinolaryngological 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 | 5 cases | Worldwide | Case(s) | Validated | 1557086[PMID]_1674639[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1557086[PMID]_1674639[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
26 annotations · validated 2021-03-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001284 | Areflexia | |
| HP:0003431 | Decreased motor nerve conduction velocity | |
| HP:0008944 | Distal lower limb amyotrophy | |
| HP:0009053 | Distal lower limb muscle weakness | |
| HP:0002936 | Distal sensory impairment | |
| HP:0003444 | EMG: chronic denervation signs | |
| HP:0009027 | Foot dorsiflexor weakness | |
| HP:0001288 | Gait disturbance | |
| HP:0030237 | Hand muscle weakness | |
| HP:0002378 | Hand tremor | |
| HP:0008954 | Intrinsic hand muscle atrophy | |
| HP:0011727 | Peroneal muscle weakness | |
| HP:0001761 | Pes cavus | |
| HP:0003376 | Steppage gait | |
| HP:0011399 | Tibialis atrophy | |
| Occasional (29-5%) | ||
| HP:0003487 | Babinski sign | |
| HP:0031866 | Clasp-knife sign | |
| HP:0006801 | Hyperactive deep tendon reflexes | |
| HP:0001347 | Hyperreflexia | |
| HP:0001265 | Hyporeflexia | |
| HP:0001249 | Intellectual disability | |
| HP:0000543 | Optic disc pallor | |
| HP:0001138 | Optic neuropathy | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0007924 | Slow decrease in visual acuity | |
| HP:0002313 | Spastic paraparesis | |
Annotation source: 15955956[PMID]_1557086[PMID]_1674639[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/101076
- This record as JSON: /data/d/101076.json