Ullrich’s disease: a hereditary muscle disease

Ullrich’s disease is an inherited condition in which muscle tissue deteriorates over time. It can occur anywhere in the body, but is most common in the muscles and skin. Because the connective tissue is affected, the wrists and ankles are often extremely mobile. It starts shortly after birth and the patient will continue to deteriorate and end up in a wheelchair. Ultimately, the patient will need a ventilator to stay alive.

What it is

Ullrich’s disease is a hereditary condition in which the process of deterioration of the body begins shortly after birth. It is a rare congenital disorder of muscle and connective tissue that mainly occurs in the muscles and skin. It mainly affects the skeletal muscles that ensure that we can move. The muscles become increasingly weaker. A striking feature is the extreme mobility (hypermobility) in the wrists and ankles. For example, the hand can be folded back against the forearm.

Heredity

This disease is very rare and it is hereditary. A mutation has occurred in the hereditary material on the genes. There is a deficiency of a certain type of collagen that leads to muscle weakness. The genes that play an important role in the function of muscle cells are affected. This genetic error is on a recessive gene, which means that this disease is only expressed if it is matched by a recessive gene. As soon as a dominant gene is opposite, the disease is not expressed and a person is only a carrier of this disease. In a rare number of cases, a recessive gene is opposite the recessive gene and the child will develop Ullrich’s disease. This disease occurs in 1 in a million people.

Affect muscles

Both muscle and connective tissue continue to deteriorate as the patient ages. At a certain point, the muscles are so weakened that walking is no longer possible. The patient is dependent on help from others and a wheelchair. Stiffness develops in the knees and elbows, making movement even more difficult. As the muscles become further damaged, the breathing muscles will no longer be able to function independently and the patient will be tied to a breathing machine. At first it will only be for the night, later for the entire day.

The gradient

The weights are stiff and the muscles continue to contract. Some patients suffer from small bumps on the skin, also called hyperkeratosis folliculitis. This occurs on the elbows and knees. Wounds can open and bleed more easily, making it easier for scars to form on the skin surface. The skin of the palms and soles of the feet is velvety soft. Because it is a very rare disease, little is known about it. We are currently working hard to raise money for research to further investigate this disease.

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