Erba Juvenile Form of Myopathy

Juvenile Erb's myopathy (EWH) is a rare inherited disease characterized by progressive muscle weakness and impaired motor function. This disorder is associated with genetic mutations that lead to deficiencies in proteins involved in muscle function.

The term "juvenile" refers to the young age of onset, when symptoms may appear in children and adolescents. Juvenile age is the most favorable period for treatment and achieving the best results, since the functional abilities of the muscles have not yet been completely lost.

Symptoms of escherel syndrome include sudden and rapidly progressive muscle weakness, leading to immobility. Patients may lose the ability to walk or even sit. Muscle weakness occurs gradually and first appears in the muscles of the legs or arms. However, over time, the disease can spread to the muscles of the face, throat, neck and other parts of the body. In many cases, this leads to complete immobility and difficulty breathing.