Tubular aggregate myopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare congenital myopathy characterized ultrastructurally by the presence of tubular aggregates in the subsarcolemmal region of the muscle fiber. It most commonly presents with slowly progressive proximal muscle weakness predominantly of the lower limbs, periodic paralysis, post-exertion muscle cramps, and muscular pain. Ocular anomalies like ophthalmoplegia or pupillary abnormalities may be associated. The intensity of the symptoms is variable, cases with normal muscle strength but myalgia or fatigue, as well as clinically asymptomatic cases have been described.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Tubular aggregate myopathy | |
| fr | Myopathie avec agrégats tubulaires | |
| de | Myopathie mit tubulären Aggregaten | |
| es | Miopatía con agregados tubulares | |
| it | Miopatia con aggregati tubulari | |
| nl | Myopathie met tubulaire aggregaten | |
| pt | Miopatia de agregados tubulares | |
| pl | Miopatia z tubularnymi agregatami | |
| cs | Myopatie s tvorbou tubulárních agregátů | |
| uk | Тубулярна агрегатна міопатія | |
| zh | 微管聚集性肌病 | |
| tr | Tübüler agregat miyopatisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 160565 | E | validated | |
| OMIM | 615883 | BTNT | validated | |
| ICD-10 | G71.2 | NTBT | attributed | validated |
| ICD-11 | 8C72.Y | NTBT | index | validated |
| MONDO | 0008051 | E | validated | |
| UMLS | C0410207 | E | validated | |
| GARD | 3884 | 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:97245Congenital myopathy
rare genetic diseases; rare neurological diseases
No children.
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ORAI1 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:25896 | ENSG00000276045 | 610277 | 12q24.31 | ORAI calcium release-activated calcium modulator 1 | 24591628[PMID] |
| STIM1 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:11386 | ENSG00000167323 | 605921 | 11p15.4 | stromal interaction molecule 1 | 23332920[PMID] |
| CASQ1 | Disease-causing germline mutation(s) in | Assessed | HGNC:1512 | ENSG00000143318 | 114250 | 1q23.2 | calsequestrin 1 | 28895244[PMID]_29039140[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 60 cases | Worldwide | Case(s) | Validated | 6176692[PMID]_66818785[PMID]_6681878[PMID]_16758596[PMID]_1484321[PMID]_9447609[PMID]_8836987[PMID]_11547948[PMID]_15452313[PMID]_25227914[PMID]_27882542[PMID]_23332920[PMID]_24570283[PMID]_25326555[PMID]_37923376[PMID]_35666680[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 6176692[PMID]_66818785[PMID]_6681878[PMID]_16758596[PMID]_1484321[PMID]_9447609[PMID]_8836987[PMID]_11547948[PMID]_15452313[PMID]_25227914[PMID]_27882542[PMID]_23332920[PMID]_24570283[PMID]_25326555[PMID]_37923376[PMID]_35666680[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
9 annotations · validated 2016-06-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0003473 | Fatigable weakness | |
| HP:0030200 | Fatiguable weakness of proximal limb muscles | |
| HP:0100301 | Muscle fiber tubular inclusions | |
| HP:0003394 | Muscle spasm | |
| HP:0003326 | Myalgia | |
| Frequent (79-30%) | ||
| HP:0003687 | Centrally nucleated skeletal muscle fibers | |
| HP:0003557 | Increased variability in muscle fiber diameter | |
| Occasional (29-5%) | ||
| HP:0003554 | Type 2 muscle fiber atrophy | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 15452313[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2593
- This record as JSON: /data/d/2593.json