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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

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)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
DES1413NM_001927.4AD, 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

Bioinformatics and clinical interpretation

No text defined