Symptomatic form of X-linked centronuclear myopathy in female carriers
Synonyms: Symptomatic form of X-linked myotubular myopathy in female carriers · Symptomatic form of XLCNM in female carriers · Symptomatic form of XLMTM in female carriers
- Type
- Disease
- Group
- Disorder
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare centronuclear myopathy characterized by a variable severity of muscle weakness which is typically asymmetric with a limb-girdle pattern. Severity can range from skeletal asymmetry to loss of ambulation. Other manifestations may include respiratory muscle weakness, urinary incontinence, bulbar signs (facial weakness, limitation of extra-ocular movements, ophthalmoparesis, ptosis and dysarthria), or skeletal involvement (kyphoscoliosis, scoliosis, joint hyperlaxity, joint contractures of the lower extremities, foot deformities and hand and/or facial contractures). Many female carriers remain asymptomatic.
Names in Orphadata languages
11 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Symptomatic form of X-linked centronuclear myopathy in female carriers | Symptomatic form of X-linked myotubular myopathy in female carriers · Symptomatic form of XLCNM in female carriers · Symptomatic form of XLMTM in female carriers |
| fr | Forme symptomatique de la myopathie centronucléaire liée à l'X de la femme porteuse | Forme symptomatique de XLCNM de la femme porteuse · Forme symptomatique de XLMTM de la femme porteuse · Forme symptomatique de la myopathie congénitale myotubulaire liée à l'X de la femme porteuse |
| de | Symptomatische Form der X-chromosomalen zentronukleären Myopathie bei weiblichen Anlageträgerinnen | Symptomatische Form der X-chromosomalen myotubuläre Myopathie bei weiblichen Anlageträgerinnen · Symptomatische Form von XLCNM bei weiblichen Anlageträgerinnen · Symptomatische Form von XLMTM bei weiblichen Anlageträgerinnen |
| es | Forma sintomática de miopatía centronuclear ligada al cromosoma X en mujeres portadoras | Forma sintomática de XLCNM en mujeres portadoras · Forma sintomática de XLMTM en mujeres portadoras · Forma sintomática de miopatía miotubular ligada al cromosoma X en mujeres portadoras |
| it | Forma sintomatica della miopatia centronucleare legata allX nelle femmine portatrici | Forma sintomatica della XLCNM nelle femmine portatrici · Forma sintomatica della XLMTM nelle femmine portatrici · Forma sintomatica della miopatia miotubulare legata allX nelle femmine portatrici |
| nl | Symptomatische vorm van X-gebonden centronucleaire myopathie bij vrouwelijke dragers | Symptomatische vorm van X-gebonden myotubulaire myopathie bij vrouwelijke dragers · Symptomatische vorm van XLCNM bij vrouwelijke dragers · Symptomatische vorm van XLMTM bij vrouwelijke dragers |
| pt | Forma sintomática de miopatia centronuclear ligada ao X em mulheres portadoras | Forma sintomática de XLCNM em mulheres portadoras · Forma sintomática de XLMTM em mulheres portadoras · Forma sintomática de miopatia miotubular ligada ao X em mulheres portadoras |
| pl | Objawowa postać centronuklearnej miopatii sprzężonej z choromosomem X u kobiet nosicielek | = en |
| cs | Symptomatická forma X-vázané centronukleární myopatie u žen přenašeček | = en |
| uk | Симптоматична форма Х-зчепленої центронуклеарної міопатії у жінок-носіїв | Симптоматична форма XLCNM у жінок-носіїв · Симптоматична форма Х-зчепленої міотубулярної міопатії у жінок-носіїв · Симптоматична форма XLMTM у жінок-носіїв |
| tr | Symptomatic form of X-linked centronuclear myopathy in female carriers | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 310400 | NTBT | validated | |
| ICD-10 | G71.2 | NTBT | attributed | validated |
| MONDO | 0035826 | E | validated | |
| UMLS | C5680221 | 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 (2):
- ORPHA:595Centronuclear myopathy
rare genetic diseases; rare neurological diseases - ORPHA:207110Qualitative or quantitative defects of myotubularin
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MTM1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7448 | ENSG00000171100 | 300415 | Xq28 | myotubularin 1 | 15883335[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | 28685322[PMID]_34011573[PMID]_ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 28685322[PMID]_34011573[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/604680
- This record as JSON: /data/d/604680.json