Ullrich congenital muscular dystrophy (UCMD) is a type of muscular dystrophy, which is a group of related diseases characterized by muscle weakness and wasting.

Causes of UCMD

UCMD is caused by mutations in the COL6A1COL6A2, and COL6A3 genes that encode for portions of a large structural protein called collagen type 6. These mutations result in either abnormal collagen type 6 protein being produced or less of it. The effect that a particular mutation will have on the protein complex is difficult to predict, but, generally, mutations that cause less collagen type 6 to be produced are associated with more severe symptoms.

How is autosomal recessive UCMD inherited?

UCMD can be inherited in two ways: autosomal recessive or autosomal dominant.

Most cases of UCMD are inherited in an autosomal recessive manner. Autosomal means that the mutations are carried on chromosomes that do not determine gender, and so affect both genders equally. Recessive means that a child must inherit two copies of a disease-causing mutation to develop the disease. In most cases, this happens when both parents are carriers of the disease-causing mutation, but they themselves have no symptoms of the disease. The children of carriers have a one-in-two chance of inheriting only one copy of the disease-causing mutation and being carriers like their parents. They have a one-in-four chance of inheriting two copies of the disease-causing mutation and developing the disease, or of inheriting no copies of the mutation and being healthy.

How is autosomal dominant UCMD inherited?

A small number of UCMD cases can be inherited in an autosomal dominant manner — meaning that a single copy of a mutated gene is sufficient to cause the disease. This type of mutation is usually a new mutation in the gene, affecting people with no family history of the disease, although, occasionally, UCMD patients can transmit this type of mutation to their children. Patients with a single copy of the disease-causing mutation have a one-in-two chance of transmitting it to their children, who would then inherit the disease as well.

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Muscular Dystrophy News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare providers with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

Emily holds a Ph.D. in Biochemistry from the University of Iowa and is currently a postdoctoral scholar at the University of Wisconsin-Madison. She graduated with a Masters in Chemistry from the Georgia Institute of Technology and holds a Bachelors in Biology and Chemistry from the University of Central Arkansas. Emily is passionate about science communication, and, in her free time, writes and illustrates children’s stories.
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Emily holds a Ph.D. in Biochemistry from the University of Iowa and is currently a postdoctoral scholar at the University of Wisconsin-Madison. She graduated with a Masters in Chemistry from the Georgia Institute of Technology and holds a Bachelors in Biology and Chemistry from the University of Central Arkansas. Emily is passionate about science communication, and, in her free time, writes and illustrates children’s stories.
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