Ullrich congenital muscular dystrophy

Overview

What are the main symptoms of Ullrich Congenital Muscular Dystrophy?

People with Ullrich congenital muscular dystrophy have severe muscle weakness starting soon after birth. Most children with Ullrich congenital muscular dystrophy will learn to walk on their own. However, there are some people that never walk and others walk only with support. Those who can walk may lose the ability, usually in adolescence or by their teenage years. Individuals with Ullrich congenital muscular dystrophy develop stiffness and contractures in the muscles in their neck, hips, elbows, and knees. This can make it harder to move. Joints may be loose in the fingers, wrists, toes, ankles, and other areas. Some people need a machine to help them breathe. Additionally, scoliosis may develop and can be progressive requiring special surgical procedures to correct the severe curvature of the spine that can develop. Some people with Ullrich congenital muscular dystrophy have soft, velvety skin on the palms and soles. Some have abnormal wound healing.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/ullrich-congenital-muscular-dystrophy/overview/4654 • DATE UPDATED: 2016-06-12

References

http://ghr.nlm.nih.gov/condition/collagen-vi-related-myopathy

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