TTN-related myopathy
MONDO:0100175A 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.
Also known as: TTN myopathy, congenital myopathy related to TTN
8 clinical trials for this condition and its sub-types, 2 tagged with TTN-related myopathy itself.
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Sub-types of TTN-related myopathy
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Autosomal recessive titinopathy 0 trials · 2 incl. sub-types
7 sub-types
- Autosomal recessive limb-girdle muscular dystrophy type 2J 1 trial
- Early-onset myopathy with fatal cardiomyopathy 1 trial
- Emery-Dreifuss-like muscular dystrophy 0 trials
- Autosomal recessive centronuclear myopathy 0 trials Sub-types →
- Autosomal recessive distal titinopathy 0 trials
- Classic multiminicore myopathy 0 trials
- Titinopathy with congenital contractures 0 trials
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Autosomal dominant titinopathy 0 trials
4 sub-types
- Dilated cardiomyopathy 1G 0 trials
- Hypertrophic cardiomyopathy 9 0 trials
- Myopathy, myofibrillar, 9, with early respiratory failure 0 trials
- Tibial muscular dystrophy 0 trials