Desminopathy
Synonyms: Desmin-related myofibrillar myopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
A rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hypoventilation with oxygen desaturation and progressing to daytime respiratory failure.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Desminopathy | Desmin-related myofibrillar myopathy |
| fr | Desminopathie | Myopathie myofibrillaire liée à la desmine |
| de | Desminopathie | Myofibrilläre Myopathie, Desmin-assoziierte |
| es | Desminopatía | Miopatía miofibrilar asociada a la desmina |
| it | Desminopatia | Miopatia miofibrillare legata alla desmina |
| nl | Desminopathie | Desmine-gerelateerde myofibrillaire myopathie |
| pt | Desminopatia | |
| pl | Desminopatia | Miopatia miofibrylarna związana z desminą |
| cs | Desminopatie | Desmin-vázaná myofibrilární myopatie |
| uk | Десмінопатія | Міофібрилярна міопатія, повязана з десміном |
| zh | 结蛋白病 | 结蛋白相关肌原纤维肌病 |
| tr | Desminopati | Desmin-ilişkili miyofibriler miyopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601419 | E | validated | |
| ICD-10 | G71.8 | NTBT | attributed | validated |
| ICD-11 | 8C76 | NTBT | index | validated |
| MONDO | 0011076 | E | validated | |
| MeSH | C563319 | E | validated | |
| UMLS | C1832370 | 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 (7):
- ORPHA:206650Autosomal dominant distal myopathy
rare genetic diseases; rare neurological diseases - ORPHA:217635Familial restrictive cardiomyopathy
rare cardiac diseases; rare genetic diseases - ORPHA:206662Inclusion myopathy
rare genetic diseases; rare neurological diseases - ORPHA:593Myofibrillar myopathy
rare genetic diseases; rare neurological diseases - ORPHA:217610Neuromuscular disease with dilated cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:209041Qualitative or quantitative defects of desmin
rare genetic diseases - ORPHA:217595Syndrome associated with hypertrophic cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:34517Autosomal dominant limb-girdle muscular dystrophy type 1E moved to · inactive
- ORPHA:363543Autosomal recessive limb-girdle muscular dystrophy type 2R moved to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DES | Disease-causing germline mutation(s) in | Assessed | HGNC:2770 | ENSG00000175084 | 125660 | 2q35 | desmin | 11668632[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | 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
18 annotations · validated 2019-01-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003327 | Axial muscle weakness | |
| HP:0009053 | Distal lower limb muscle weakness | |
| HP:0003323 | Progressive muscle weakness | |
| Frequent (79-30%) | ||
| HP:0001678 | Atrioventricular block | |
| HP:0005157 | Concentric hypertrophic cardiomyopathy | |
| HP:0001635 | Congestive heart failure | |
| HP:0030196 | Fatigable weakness of respiratory muscles | |
| HP:0001288 | Gait disturbance | |
| HP:0002505 | Loss of ambulation | |
| HP:0002747 | Respiratory insufficiency due to muscle weakness | |
| HP:0005115 | Supraventricular arrhythmia | |
| Occasional (29-5%) | ||
| HP:0002522 | Areflexia of lower limbs | |
| HP:0030192 | Fatigable weakness of bulbar muscles | |
| HP:0003722 | Neck flexor weakness | |
| HP:0001645 | Sudden cardiac death | |
| HP:0005659 | Thoracic kyphoscoliosis | |
| HP:0030319 | Weakness of facial musculature | |
| Very rare (<4-1%) | ||
| HP:0003306 | Spinal rigidity | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 23143191[PMID]_7405006[PMID]_8509778[PMID]_8114783[PMID]_15122708[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98909
- This record as JSON: /data/d/98909.json