Deutsch
IllnessDesminopathy
Summary
Short information
Curated single gene sequence analysis according to the clinical suspicion Desminopathy
ID
DS0110
Number of genes
1
Accredited laboratory test
Examined sequence length
1,5 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| DES | 1413 | NM_001927.4 | AD, AR |
Informations about the disease
Clinical Comment
Skeletal muscle disease with abnormal chimeric desmin aggregates + other cytoskeletal proteins + granulofilamentous material muscle ultrastructure + variable clinical myopathology, AO + progression. Bilateral skeletal muscle weakness distal leg muscles, then proximally, sometimes trunk, neck flexors + facial muscles; often cardiomyopathy, conduction blocks, arrhythmias, chronic heart failure, sometimes tachyarrhythmia. Weakness eventually to wheelchair. Respiratory insufficiency, disability + death, beginning with nocturnal hypoventilation with oxygen desaturation + progressing to daytime respiratory failure.
Synonyms
- Alias: Desmin-related myofibrillar myopathy (DES)
- Alias: Desminopathy (DES)
- Alias: Muscular dystrophy, limb-girdle, type 2R (DES)
- Alias: Myopathy, myofibrillar, 1 (DES)
- Alias: Stark-Kaeser syndrome (DES)
- Allelic: Arrhythmogenic right ventricular dysplasia, familial, 7 (DES)
- Allelic: Cardiomyopathy, dilatated, 1I (DES)
- Allelic: Scapuloperoneal syndrome, neurogenic, Kaeser type (DES)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
ICD10 Code
G71.8
Bioinformatics and clinical interpretation
No text defined