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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the TTN gene cause tibial muscular dystrophy. This gene provides instructions for making a protein called titin. Titin plays an important role in muscles the body uses for movement (skeletal muscles) and in heart (cardiac) muscle.</p><p>Within muscle cells, titin is an essential component of structures called sarcomeres. Sarcomeres are the basic units of muscle contraction; they are made of proteins that generate the mechanical force needed for muscles to contract. Titin has several functions within sarcomeres. One of its most important jobs is to provide structure, flexibility, and stability to these cell structures. Titin also plays a role in chemical signaling and in assembling new sarcomeres.</p><p>Mutations in the TTN gene alter the structure and function of titin. Researchers suspect that these changes may disrupt titin&#x27;s interactions with other proteins within sarcomeres. Mutations may also interfere with the protein&#x27;s role in chemical signaling. The altered titin protein disrupts normal muscle contraction, which causes muscles to weaken and waste away over time. It is unclear why these effects are usually limited to muscles in the lower legs.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/tibial-muscular-dystrophy/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Tibial muscular dystrophy?"},{"bodyHtml":"<p>Muscle weakness worsens very slowly in people with tibial muscular dystrophy. Ten to 20 years after the onset of symptoms, weakness may develop in muscles that help extend the toes (long-toe extensors). Weakness in these muscles makes it difficult to lift the toes while walking, a condition known as foot drop. Later in life, about one third of people with tibial muscular dystrophy experience mild to moderate difficulty with walking because of weakness in other leg muscles. However, most affected individuals remain able to walk throughout their lives.</p><p>A small percentage of people with tibial muscular dystrophy have a somewhat different pattern of signs and symptoms than those described above. Starting in childhood, these individuals may have generalized muscle weakness, weakness and atrophy of the thigh muscles (quadriceps) or other muscles in the legs, and weakness affecting muscles in the arms.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/tibial-muscular-dystrophy\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"tibial-muscular-dystrophy","sourceDocuments":[{"name":"Tibial muscular dystrophy","reviewed":"2012-02","sections":{"causes":{"fetchedAt":"2026-10-20T20:25:28.484647+00:00","label":"Causes","pageSha256":"4be53bf0693c3a0f9f3d417e5e185d160eef6571d720305034b397b153b59149","sourceUrl":"https://medlineplus.gov/genetics/condition/tibial-muscular-dystrophy/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/tibial-muscular-dystrophy"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Tibial muscular dystrophy"},"schemaVersion":1}