Details of Disease

General Information of Disease (ID: DISINYSF)

• Disease Name: TTN-related myopathy
• Synonyms: TTN myopathy; congenital myopathy related to TTN
• Definition: A disorder of the musculoskeletal system caused by pathogenic variants in the TTN gene encoding the titin protein expressed in striated muscle. These variants are associated with a variety of overlapping congenital and adult-onset myopathies characterized by non-progressive or progressive neck, axial, and limb weakness, joint contractures, early-onset respiratory insufficiency, facial weakness, congenital cardiac anomalies and/or early-onset dilated cardiomyopathy. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include increased internalized and central nuclei, minicores, and dystrophic changes.|In the absence of evidence supporting distinct differences in molecular mechanisms between the associated disease entities, as well as considerable phenotypic overlap, these entities can be considered part of a clinical spectrum of TTN-related myopathy.
• Disease Hierarchy:
  DIS2BIP8: Congenital nervous system disorder
  DIS9I2IB: Qualitative or quantitative defects of titin
  DISLSK9G: Congenital myopathy
  DISD715V: Hereditary neurological disease
  DISINYSF: TTN-related myopathy

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TTN	OT0LZ058	Definitive	Autosomal recessive	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.