Congenital muscular dystrophy can affect the body in a variety of ways, depending on the type of disease. All congenital muscular dystrophies are caused by a genetic mutation that affects one of the various proteins in muscle cells. The genetic problems lead to muscle weakness that develops very early in childhood, almost always by age two. The disease most commonly affects voluntary muscles in the legs, arms, and torso, leading to problems with developmental milestones like crawling, sitting up, and walking. This muscle weakness can sometimes lead to scoliosis (a curving of the spine) or joint contractures in which joints become "frozen" in bent positions. It can also affect muscles in the heart and brain, causing learning disabilities and other mental problems. In most cases, the disease progresses over time and may lead to limited mobility or a complete inability to walk.
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