ORPHA:178464
Hereditary myopathy with early respiratory failure
Synonyms: Edström Myopathy · HIBM-ERF · HMERF · Hereditary inclusion body myopathy with early respiratory failure · MFM-titinopathy · Myofibrillar myopathy with early respiratory failure · Myofibrillar myopathy-titinopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare genetic neuromuscular disease characterized by adult onset of slowly progressive distal and/or proximal muscle weakness in the upper and lower extremities, and early involvement of respiratory muscles leading to respiratory failure. Additional features are neck flexor weakness, foot extensor weakness, and, in rare cases, mildly impaired cardiac function. Muscle biopsy shows eosinophilic myofibrillar inclusions referred to as cytoplasmic bodies, as well as fiber size variation, increased internal nuclei and connective tissue, fiber splitting, and rimmed vacuoles.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary myopathy with early respiratory failure | Edström Myopathy · HIBM-ERF · HMERF · Hereditary inclusion body myopathy with early respiratory failure · MFM-titinopathy · Myofibrillar myopathy with early respiratory failure · Myofibrillar myopathy-titinopathy |
| fr | Myopathie héréditaire avec atteinte respiratoire précoce | Myopathie d'Edström · Myopathie myofibrillaire avec atteinte respiratoire précoce · Myopathie myofibrillaire-titinopathie · Myopathie à corps d'inclusion héréditaire avec atteinte respiratoire précoce · Myopathie à inclusions héréditaire avec atteinte respiratoire précoce · HIBM-ERF · HMERF · MMF-titinopathie |
| de | Hereditäre Myopathie mit frühem Atemversagen | Edström-Myopathie · HIBM-ERF · HMERF · Hereditäre Einschlusskörperchenmyopathie mit frühem Atemversagen · MFM-Titinopathie · Myofibrilläre Myopathie mit frühem Atemversagen · Myofibrilläre Myopathie-Titinopathie |
| es | Miopatía hereditaria con insuficiencia respiratoria temprana | HIBM-ERF · HMERF · MFM-titinopatía · Miopatía de Edström · Miopatía hereditaria con cuerpos de inclusión con insuficiencia respiratoria temprana · Miopatía miofibrilar con fallo respiratorio temprano · Miopatía miofibrilar con insuficiencia respiratoria temprana · Miopatía miofibrilar-titinopatía |
| it | Miopatia ereditaria con insufficienza respiratoria precoce | ADMERF · HIBM-ERF · Miopatia di Edström · Miopatia ereditaria da corpi inclusi con insufficienza respiratoria precoce · Miopatia miofibrillare con insufficienza respiratoria precoce |
| nl | Erfelijke myopathie met vroeg respiratoir falen | ADMERF · Edström-myopathie · Erfelijke inclusielichaammyopathie met vroeg respiratoir falen · HIBM-ERF · HMERF · MFM-titinopathie · Myofibrillaire myopathie - titinopathie · Myofibrillaire myopathie met vroeg respiratoir falen |
| pt | Miopatia hereditária com insuficiência respiratória precoce | |
| pl | Dziedziczna miopatia z wczesną niewydolnością oddechową | ADMERF · Dziedziczna miopatia z ciałkami wtrętowymi z wczesną niewydolnością oddechową · HIBM-ERF · Miopatia Edströma · Miopatia miofibrylarna z wczesną niewydolnością oddechową |
| cs | Hereditární proximální myopatie s časným respiračním selháním | ADMERF · Edstromova myopatie · HIBM-ERF · HMERF · Hereditární myopatie s inkluzními tělísky s časným respiračním selháním · Myofibrilární myopatie s časným respiračním selháním |
| uk | Спадкова міопатія з ранньою дихальною недостатністю | Міопатія Едстрема · Спадкова інклюзивна міопатія тіла з ранньою дихальною недостатністю · HIBM-ERF · HMERF · MFM-титинопатія · Міофібрилярна міопатія з ранньою дихальною недостатністю · Міофібрилярна міопатія-титинопатія |
| zh | 遗传性肌病伴早期呼吸衰竭 | 遗传性包涵体肌病伴早期呼吸衰竭 |
| tr | Erken solunum yetmezliği ile seyreden kalıtsal miyopati | HMERF · HIBM-ERF · MFM-titinopati · Edström miyopatisi · Miyofibriler miyopati-titinopati · Erken solunum yetmezliği ile seyreden miyofibriler miyopati · Erken solunum yetmezliği ile seyreden kalıtsal inklüzyon vücut miyopatisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 603689 | E | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| ICD-11 | 8C70.Y | NTBT | index | validated |
| MONDO | 0011362 | E | validated | |
| MeSH | C566343 | E | validated | |
| UMLS | C1863599 | E | validated | |
| GARD | 12591 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:206662Inclusion myopathy
rare genetic diseases; rare neurological diseases - ORPHA:206644Progressive muscular dystrophy
rare genetic diseases; rare neurological diseases - ORPHA:209053Qualitative or quantitative defects of titin
rare genetic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:34521Distal myopathy with early respiratory muscle involvement moved to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TTN | Disease-causing germline mutation(s) in | Assessed | HGNC:12403 | ENSG00000155657 | 188840 | 2q31.2 | titin | 24575448[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 families | Worldwide | Family(ies) | Validated | 10407851[PMID]_10053013[PMID]_2376753[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_10407851[PMID]_10053013[PMID]_2376753[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.
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HPO phenotypes
24 annotations · validated 2018-06-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002094 | Dyspnea | |
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0009027 | Foot dorsiflexor weakness | |
| HP:0001288 | Gait disturbance | |
| HP:0003557 | Increased variability in muscle fiber diameter | |
| HP:0031237 | Internally nucleated skeletal muscle fibers | |
| HP:0008800 | Limited hip movement | |
| HP:0003555 | Muscle fiber splitting | |
| HP:0003722 | Neck flexor weakness | |
| HP:0008978 | Necrotizing myopathy | |
| HP:0012764 | Orthopnea | |
| HP:0002792 | Reduced vital capacity | |
| HP:0002747 | Respiratory insufficiency due to muscle weakness | |
| HP:0002091 | Restrictive ventilatory defect | |
| HP:0003805 | Rimmed vacuoles | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0003803 | Type 1 muscle fiber predominance | |
| Occasional (29-5%) | ||
| HP:0008981 | Calf muscle hypertrophy | |
| HP:0002460 | Distal muscle weakness | |
| HP:0100293 | Muscle fiber hypertrophy | |
| HP:0003701 | Proximal muscle weakness | |
| HP:0008963 | Tibialis muscle weakness | |
| Very rare (<4-1%) | ||
| HP:0002527 | Falls | |
Annotation source: 22577215[PMID]_24575448[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/178464
- This record as JSON: /data/d/178464.json