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TTN-related myopathy

MONDO:0100175

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.

Also known as: TTN myopathy, congenital myopathy related to TTN

41 clinical trials for this condition and its sub-types.

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Sub-types

Autosomal recessive limb-girdle muscular dystrophy type 2J (1) Early-onset myopathy with fatal cardiomyopathy (1) Autosomal dominant titinopathy (0) Autosomal recessive centronuclear myopathy (0) Autosomal recessive distal titinopathy (0) Autosomal recessive titinopathy (0) Classic multiminicore myopathy (0) Dilated cardiomyopathy 1G (0) Emery-Dreifuss-like muscular dystrophy (0) Hypertrophic cardiomyopathy 9 (0) Myopathy, centronuclear, 2 (0) Myopathy, centronuclear, 5 (0) Myopathy, myofibrillar, 9, with early respiratory failure (0) Tibial muscular dystrophy (0) Titinopathy with congenital contractures (0)

Broader categories

Disease (618) Nervous system disorder (217) Musculoskeletal system disorder (196) Hereditary disease (172) Muscle tissue disorder (53) Human disease (14) Myopathy (11) Congenital myopathy (8) Skeletal muscle disorder (8) Hereditary neurological disease (5)
Trials to join now! 19 Not yet recruiting 8 Not yet finished but already full! 5 Completed 8 Terminated 1
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