BAG3-related myofibrillar myopathy
Synonyms: MFM6 · Myofibrillar myopathy type 6
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Childhood
- Status
- active
A rare myofibrillar myopathy characterized by childhood-/adolescent-onset progressive myopathy with proximal and/or distal muscle weakness that commonly progress to involve axial muscles due to <i>BAG3</i> mutations. Patients present with toe-walking, gait disturbance, fatigue, rigid spine, scoliosis and joint contractures (particularly of the knees, ankles, and hips). Respiratory insufficiency and cardiomyopathy are frequently present. All patients exhibit a sensorimotor axonal/demyelinating (often with giant axons) peripheral neuropathy contributing to distal weakness and sensory loss. Disease typically progress rapidly in childhood-/adolescent-onset patient, however few adult-onset patients reported to have milder, slower progression with limited cardiac or respiratory involvement.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | BAG3-related myofibrillar myopathy | MFM6 · Myofibrillar myopathy type 6 |
| fr | Myopathie myofibrillaire associée à BAG3 | Myopathy myofibrillaire type 6 |
| de | BAG3-assoziierte myofibrilläre Myopathie | MFM6 · Myofibrilläre Myopathie Typ 6 |
| es | Miopatía miofibrilar asociada a BAG3 | MFM6 · Miopatía miofibrilar tipo 6 |
| it | Miopatia miofibrillare correlata a BAG3 | MFM6 · Miopatia miofibrillare tipo 6 |
| nl | BAG3-gerelateerde myofibrillaire myopathie | MFM6 · Myofibrillaire myopathie type 6 |
| pt | Distrofia muscular, tipo Selcen | MFM6 · Miopatia miofibrilar tipo 6 · Miopatia miofibrilar BAG3-relacionada |
| pl | Miopatia miofibrylarna związana z BAG3 | = en |
| cs | Svalová dystrofie, Selcenové typ | = en |
| uk | Мязова дистрофія, тип Селцена | |
| zh | 肌营养不良Selcen型 | |
| tr | Kas distrofisi, Selcen tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612954 | E | validated | |
| ICD-10 | G71.8 | NTBT | attributed | validated |
| ICD-11 | 8C76 | NTBT | index | validated |
| MONDO | 0013061 | E | validated | |
| UMLS | C4509880 | 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:206650Autosomal dominant distal myopathy
rare genetic diseases; rare neurological diseases - ORPHA:593Myofibrillar myopathy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BAG3 | Disease-causing germline mutation(s) in | Assessed | HGNC:939 | ENSG00000151929 | 603883 | 10q26.11 | BAG cochaperone 3 | 19085932[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 12 cases | Worldwide | Case(s) | Validated | 22734908[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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/199340
- This record as JSON: /data/d/199340.json