Nemaline myopathy

Myopathy is a collective name for a group of diseases with chronic muscle weakness. It includes myopathies of different origin, nature and genetic background. Non-myogenic myopathies (non-myopathic) are a category in which a decrease in muscle strength and endurance is not directly related to a decrease in the amount of DNA in muscle tissue cells and the formation of defective or inoperative fibers. The main feature of myopathy is the inability of muscles to contract. The diagnosis is made based on the totality of the results of clinical and instrumental studies. Treatment is carried out by a neurologist and, if necessary, a speech therapist.

Nemaline myopathy is a group of neuromuscular diseases in which muscles become weak, stiff, or damaged. In some cases, these diseases can lead to problems with breathing, swallowing, or chewing. Typically, these symptoms appear in children and adolescents, but in some rare cases, myopathies can also occur in adults.

Nemaline myopathy is a progressive muscle disease that is characterized by significant muscle fatigue. This type of myopathy is common among adolescents and young adults. The clinical picture of this myotonia may include muscle weakness, increased stiffness, and possible loss of the ability to move with sufficient force. A common site of lesions in nemaline myopathy is the peripheral part of the head and extremities, as well as the spinal cord. Most often, nemaline myopathy is caused by autoimmune diseases, genetic abnormalities and medications. Treatment of this disease consists of taking medications to help eliminate symptoms and stabilize the functioning of muscle tissue. When myopathy does not respond to treatment, surgery may be necessary. To make a diagnosis of nemaline myopathy, a neurologist examines the patient and prescribes additional studies and tests. As a method of treatment, doctors prescribe physiotherapy and massage, and use special devices on muscle tissue. If there are no other ways to cure, then operations are performed on damaged muscle tissue. Unfortunately, the causes of nemalinka myopathies cannot always be determined accurately, so diagnosis can be difficult. For non-maline myopathies, diagnosis can be carried out through the integrated use of various methods, including MRI and electromyography. Ultrasounds, electromyograms, and muscle testing help the doctor determine the extent of muscle fiber damage and muscle cell activity. They usually do a general examination, including blood and urine tests. Of course, no small myopathy requires constant attention from doctors and proper care for the patient. It is important to monitor your daily routine and ensure sufficient sleep, rest and physical activity. Medications are usually prescribed to correct the underlying condition that is causing the problem - muscle weakness. Physiotherapy, in turn, involves massage, exercise therapy and other methods of maintaining muscle tone. If it is impossible to obtain correct treatment from a doctor, specialists create “at-home” conditions for rehabilitation (self-massage, active recovery programs). Also, the patient may be recommended to wear a special device.