X-linked myopathy with postural muscle atrophy
Synonyms: XMPMA
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Adult
- Status
- active
A rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked myopathy with postural muscle atrophy | XMPMA |
| fr | Myopathie liée à l'X avec atrophie des muscles posturaux | = en |
| de | X-chromosomale Myopathie mit posturaler Muskelatrophie | = en |
| es | Miopatía ligada al cromosoma X con atrofia de la musculatura postural | = en |
| it | Miopatia legata all'X con atrofia muscolare posturale | |
| nl | X-gebonden myopathie met posturale spieratrofie | X-gebonden myopathie met posturale musculaire atrofie · XMPMA |
| pt | Miopatia ligada ao X com atrofia dos músculos posturais | |
| pl | Miopatia sprzężona z chromosomem X z atrofią mięśni posturalnych | = en |
| cs | X-vázaná myopatie s posturální svalovou atrofií | = en |
| uk | Х-зчеплена міопатія з атрофією постуральних мязів | = en |
| zh | X连锁的体位性肌萎缩肌病 | = en |
| tr | Postural kas atrofisi ile seyreden X'e bağlı miyopati | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300696 | E | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| ICD-11 | 8C70.Y | NTBT | index | validated |
| MONDO | 0010401 | E | validated | |
| UMLS | C2678055 | 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:206644Progressive muscular dystrophy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FHL1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3702 | ENSG00000022267 | 300163 | Xq26.3 | four and a half LIM domains 1 | 18179888[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 families | Worldwide | Family(ies) | Validated | 19687455[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19687455[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/178461
- This record as JSON: /data/d/178461.json