Ullrich congenital muscular dystrophy
Ullrich congenital muscular dystrophy is caused by the lack of a vital protein that acts as a scaffold supporting muscle cells. It is one of the most common forms of congenital muscular dystrophy (CMD).
Congenital muscular dystrophy is a genetic muscle-wasting condition whose symptoms become apparent at an early age (congenital means ‘from birth’). It causes muscles to weaken and waste over time, leading to increasing disability. Ullrich congenital muscular dystrophy affects about 50 percent of the 400-500 people with CMD.
Children with Ullrich congenital muscular dystrophy often have hypotonia (low muscle tone or floppiness) and reduced movement at birth. They may also have dislocated hips, a tendency to hold the head to one side (torticollis), tightness (contractures) in the hips, knees and elbows and notable bendiness (hyperlaxity) of the hands and feet.
Sometimes the first signs are only noted after a few months, when babies are observed to have poor head control or when they are slow to achieve motor milestones such as sitting unaided, crawling or walking. Or there may have been a history of decreased foetal movement during pregnancy.
There is currently no treatment available to target the underlying genetic cause of Ullrich congenital muscular dystrophy. Muscular Dystrophy UK is currently funding research aiming to lay the foundations for a treatment for this condition.This research is investigating whether ‘molecular patches’, a technology in clinical trial as a treatment for other genetic muscle-wasting conditions, could potentially be used for this form of congenital muscular dystrophy
Find out more about Ullrich congenital muscular dystrophy in our condition factsheet.
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