Brody myopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare genetic skeletal muscle disease characterized by childhood onset of exercise-induced progressive impairment of muscle relaxation, stiffness, cramps, and myalgia, predominantly in the arms, legs, and face (eyelids), and, biochemically, by a reduced sarcoplasmic reticulum Ca(2+)-ATPase activity. Symptoms improve after a few minutes of rest and may be exacerbated by cold. The term Brody syndrome refers to a clinically distinguishable subset of patients without <i>ATP2A1</i> mutations, with adolescence or adult onset and selective muscular involvement, in which myalgia is more common.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Brody myopathy | |
| fr | Myopathie de Brody | |
| de | Brody-Myopathie | |
| es | Miopatía de Brody | |
| it | Miopatia di Brody | |
| nl | Brody-myopathie | |
| pt | Miopatia de Brody | |
| pl | Miopatia Brody'ego | |
| cs | Brodyho myopatie | |
| uk | Міопатія Броді | |
| zh | Brody肌病 | |
| tr | Brody miyopatisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601003 | E | validated | |
| ICD-10 | G71.8 | NTBT | attributed | validated |
| ICD-11 | 8C7Y | NTBT | index | validated |
| MONDO | 0010977 | E | validated | |
| MeSH | C536607 | E | validated | |
| UMLS | C1832918 | E | validated | |
| GARD | 9158 | 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:206656Non-dystrophic myopathy
rare genetic diseases; rare neurological diseases - ORPHA:209199Qualitative or quantitative defects of protein SERCA1
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ATP2A1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:811 | ENSG00000196296 | 108730 | 16p11.2 | ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 | 10914677[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_32040565[PMID]_22704959[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/53347
- This record as JSON: /data/d/53347.json