Sheye Disease

Sheye's disease

Neck disease is a rare hereditary disease characterized by damage to the lens of the eye.

The disease is named after the American ophthalmologist Norwell Herbert Scheie, who described the main clinical manifestations of this condition between 1930 and 1940.

The main symptom of Neck disease is a gradual clouding of the lens, usually beginning in childhood or adolescence. Over time, the lens becomes completely opaque, leading to a significant decrease in vision.

The cause of the disease is mutations in the genes responsible for the normal development of the lens. The disease is inherited in an autosomal dominant manner and occurs in approximately 1 in 25,000 to 50,000 people.

Diagnosis is based on an analysis of complaints, ophthalmoscopy data and molecular genetic research. Treatment consists of surgically replacing the clouded lens with an artificial one. The prognosis is generally favorable.

Neck disease Neck DISEASE (Scheie disease), a severe hereditary recessive metabolic disease manifested by damage to connective and smooth muscle tissues, as well as bone, nervous and cardiovascular systems. In a person suffering from this disease, abnormal processes of metaplasia occur in the bone tissue, i.e., the process of degeneration of cartilage tissue into bone tissue. However, these changes are reversible. In addition to the bone skeleton, muscle tissue and connective tissue of internal organs are affected.

Full name of the disease: hereditary neuromuscular atrophy type I. Some scientists believe it is more correct to talk about hereditary neuropathic muscular atrophy. Scheie's syndrome is characterized by a gradual increase in muscle weakness with the inevitable outcome of complete paralysis. The mutation of the genes responsible for the progression of the syndrome is recessive, meaning that both parents must be carriers of the defective gene for the disease to be passed on to their offspring. Each child of one pair of normal parents should have a 25% chance of having a child with Scheie syndrome (taking into account a mutation in either of the two genes).

As a rule, children under the age of 7 years learn about the first symptoms of Scheie syndrome. Often the first signs are considered to be that the student becomes increasingly tired when performing physical activity. As the disease progresses, mobility of the joints of the fingers and hands quickly disappears. However, initially this symptom does not manifest itself very clearly: sometimes it is enough to simply bend your arm at the elbow and touch your forearm with your palm. Only some children may initially complain of discomfort. The process of development of the syndrome usually lasts 5-8 years, after which it becomes irreversible. During the last year of life, patients may show signs of mental retardation. Many children receive a certificate of education in a boarding school for children with mental disabilities. Among people over 12 years of age, the majority have a stable level of physical activity. In the later stages, the progress of the condition is as slow as it was in the early stages of the disease. The most severe manifestations of Scheie syndrome begin to appear in children