Fragile direct malnutrition is a common chromosomal epigenetic disease that mainly affects muscle function, while it may also involve multiple systems, posing many challenges to the life and health of patients. Knowledge of their symptoms, the mechanisms for their onset, diagnostic methods and treatment strategies are essential for patients and their families.
1. Symptoms are expressed that muscle strength is one of the typical symptoms of the disease, and it is difficult for patients to relax normally after muscle contraction. For example, handshakes cannot be quickly released or eyes closed for long periods of time. This is often exacerbated in cold environments or when emotional stress occurs. Muscular incompetence and contraction are also more common, and patients gradually feel reduced body strength, reduced activity tolerance and, as the disease progresses, reduced muscle size, especially in the small hand muscles, neck muscles and lower limb muscles. Some of the patients also suffer from facial muscle weakness, which leads to a thin face and a reduced face, with a special facial appearance, commonly known as the “Ax face”. In addition to problems with the muscular system, strong straightness malnutrition may affect other systems. For example, patients are often accompanied by heart-transmission abnormalities, which can lead to signs of heart disorder, heart palpitation and, in serious cases, even cardiac arrest, endangering life. The high incidence of eye symptoms, such as cataracts, can affect the patient ‘ s vision. In addition, there may be endocrine system disorders, such as testicular atrophy, sexual dysfunction and menopause, among women. Some sufferers also suffer from mental loss, sleep disorders and other manifestations, which have a great impact on daily life and work.
II. Epidemic mechanisms The most common of these is the abnormal increase in CTTG duplicate sequences in the DMPK gene. Under normal circumstances, the number of CTTG repeats in the gene is within a given range, but the number of repeats in the patient has increased significantly. This mutation leads to an abnormal function of the gene, which in turn affects the process of synthesis and metabolism of various proteins. Unusual genetic expression can interfere with the normal physiological function of the muscle cell, resulting in an irritation of the muscular membrane, abnormal functions of the calcium ion channel, leading to muscle constriction and relaxation abnormalities, and the emergence of a straight muscle. At the same time, the cytological function of other organizations and organs is adversely affected, resulting in multisystem pathologies such as heart, eye and endocrine systems.
Diagnosis. Genetic testing is a key tool for the diagnosis of acute and direct malnutrition. An analysis of the DMPK gene results in the detection of the expansion of CTTG duplicate sequences, which can be clearly diagnosed if they are found to have increased more than normal. In addition, an electrostatic examination of the muscle is important for assessing the electrophysiological properties of the muscles. On the avionic map, it is observed that a typical muscle-strength straight-level is manifested in continuous high-frequency discharges, with a gradual decline in wave bands and frequencies, which helps to identify and diagnose other similar muscle diseases. The doctor also makes a comprehensive assessment based on the patient ‘ s symptoms, such as heaviness, muscle incompetence, multisystem stress, etc., in order to further improve the accuracy of the diagnosis in the family history. IV. The treatment strategy currently does not have a cure for the disease, but a number of measures can be taken to mitigate symptoms and slow progress. With regard to drug treatment, some drugs can be used to improve musculostrogenic symptoms, such as sodium-traffic retardants such as Mexico, which can regulate muscle membranes ‘ irritation and reduce myocardia. Rehabilitation training is an important treatment for muscle weakness. Through targeted force training, physiotherapy such as massages, heat dressings, etc., muscles can be strengthened, their blood circulation improved and their function and mobility enhanced. In the case of complications such as heart-transmission abnormalities, there is a need for periodic cardiac examinations, such as electrocardiogram monitoring, and, if necessary, a pacemaker to prevent serious incidents such as cardiac arrest. At the same time, patients also need to undergo regular eye examinations to address eye problems such as cataracts in a timely manner. Endocrine and other system problems should be addressed with appropriate treatment and support to improve the quality of life of patients.
Despite being a more complex and serious genetic disease, better living conditions can be maintained through early diagnosis, scientifically sound treatment and multi-faceted integrated management. At the same time, as medical research continues, more breakthroughs in the treatment of the disease are expected in the future.
