Acıbadem Ataşehir Hospital Neurology Specialist Prof. Dr. Kayıhan Uluç gave information about muscle disease. Defining muscle diseases as diseases caused by various proteins and structures in the muscle itself or in the muscle, Prof. Dr. Kayıhan Uluç said, “Muscle diseases, which can be seen at almost any age, are among the diseases that cause problems that can greatly limit daily life over time. In the following period, serious loss of function develops and the patient may become unable to get out of bed. Although the cause of muscle diseases is not yet known, it is stated that genetic factors are at the forefront. Rarely, muscle diseases may develop due to inflammatory/autoimmune diseases, alcohol and cholesterol-lowering drugs, endocrinological diseases or infections.” used the phrases.
prof. Dr. Kayıhan Uluç pointed out that correct and early diagnosis is extremely important in muscle diseases and said, “The earlier you detect muscle diseases, the higher your chance of intervention. We can improve the quality of life of patients and enable them to come to the point where they can do their own work. In addition, while we were helpless in the past, especially in muscle diseases caused by genetic diseases, we know that some of them are treatable today, for example, when you replace some missing enzymes in the body that cause the disease, patients can regain their old muscle strength.” said.
Muscle diseases cause 'weakness' in whichever muscle is involved. It usually affects the arm and leg muscles, and in some patients, the hand, face, swallowing and eye muscles. Loss of function begins due to weakness in the muscles. In some patients, muscle cramps, increased fatigue with exercise, and rarely pain may accompany the symptoms. Neurology Specialist Prof. Dr. Kayıhan Uluç listed the most common symptoms in muscle diseases as follows:
- Difficulty walking, not being able to go up or down stairs/hill, difficulty getting up after sitting
- Difficulty with movements that require arm muscles to rise and fall, such as combing hair, washing face, and brushing teeth
- Having trouble with fine manual skills such as buttoning, zipping, writing, sewing, holding an object
- Stumbling or falling frequently due to tripping feet
- Double vision, drooping eyelids, difficulty swallowing, trouble turning the tongue
- Difficulty loosening hands after squeezing
- Feeling weakness, pain and tension in the muscles when exercising, fasting, noticing darkening in the color of urine
- having difficulty breathing
The patient's history and examination are of great importance in the diagnosis of muscle diseases. For this reason, the medical history of the patient and his family is questioned in detail. Neurology Specialist Prof. Dr. Kayıhan Uluç said, “When we use methods such as patient history, examination, blood tests and electroneuromyography (EMG) together, we can diagnose more easily. Also, we used to use biopsy method in almost all patients for definitive diagnosis. Thanks to the rapidly developing genetic methods, we can now diagnose these diseases by genetic examination, except for some special cases.
Although there is no definitive treatment for muscle diseases, there are treatment options that alleviate the complaints and improve the patient's quality of life. Today, very successful results can be obtained from physical therapy, speech therapy, respiratory therapy, drug treatments that suppress the body's immune system and reduce muscle contractions. Neurology Specialist Prof. Dr. Kayıhan Uluç, pointing out that the underlying cause should be determined first in order to obtain effective results from the treatment, said, “There are promising developments in the treatment of genetic-induced muscle diseases today, especially thanks to the groundbreaking developments in gene therapy. We have now started specific treatments for certain genes. For example, some genetic diseases can occur due to the deficiency of various enzymes in the body. Therefore, when we detect an underlying genetic disease as a result of the examinations, we first check the enzymes. If the problem is caused by enzyme deficiency, we can only treat that disease, which was considered incurable, by replacing the missing substance.”
Be the first to comment