Duchenne myodystrophy(DMD) is a recessive, X-linked disease characterized by the progression of muscle weakness. In 1991, Emery, studying the frequency of certain neurological conditions, found that DMD occurs in 1 in 3500 live births. DMD results from a gene responsible for making the protein dystrophin, a gene found in all types of muscles.

Lack of dystrophin leads to progressive muscle degeneration with 75% loss of muscle mass by age 10; however, loss of locomotion occurs after age 13. In addition, patients with DMD have problems with the cardiovascular and digestive systems when the muscles of the corresponding systems are damaged.

The initial symptom of DMD is gait disturbance (over 16-18 months). DMD can be diagnosed in children who have frequent falls, difficulty running, and difficulty climbing stairs. Muscular hypertrophy, especially the soleus muscle, is a common feature of DMD. A common symptom of proximal muscle weakness is getting up gradually from the floor using the upper limbs. Screening for DMD may include measuring the level of creatinine kinase in the blood, which is elevated in patients with DMD. Diagnosis is usually made after a genetic test from a muscle biopsy.

Standard therapy includes the use of glucocorticosteroids, prednisone, or deflazacort. This therapy can slow the progression of muscle weakness in DMD. Treatment that alters the natural course of the disease can have side effects such as weight gain, bone damage, behavior problems, and short stature. Steroids are usually started between the ages of 4 and 8.

However, there is no treatment for DMD to target the pathogenesis of the disease and improve muscle recovery. The spectrum of research includes various areas, including cell therapy, the use of antisense oligonucleotides, therapy aimed at preventing premature codon arrest, and therapy with growth factors.

A multidisciplinary approach to treating DMD is important as it provides control over the disease and prolongs the patient's life expectancy.

The multifunctional clinics include a variety of specialists including cardiologists, pulmonologists, neurologists, nursing nutritionists, rehabilitation specialists, orthopedists, physiotherapists, geneticists, and anyone else who is needed to diagnose and prevent complications.

As the age of DMD patients increases, nutritional adjustments are needed to prevent weight gain. Difficulty chewing and swallowing should be regularly assessed and enteral nutrition reviewed, including consideration of the use of gastrostomy or tube feeding for severe swallowing difficulties or weight loss resulting from inability to consume adequate nutrition.

Gastrointestinal (GI) complications, including constipation, delayed gastric emptying, and reflux, occur in patients with DMD and require dietary adjustments and / or drug therapy to relieve symptoms. Complementary and alternative medicine is often used among DMD patients to help treat and relieve symptoms of the disease.

While there may be some potential benefits, caution should be exercised when using complementary and alternative therapies, and further research is needed to confirm the safety and efficacy of such treatments.

DMD is a multisystem disease, affecting skeletal, cardiac, and smooth muscle, resulting in respiratory, cardiovascular, orthopedic complications, and nutritional disorders.

The purpose of this review is to provide a comprehensive analysis in relation to nutritional, aspects and complications associated with DMD.

Anthropometric data.

Several retrospective and prospective studies have examined weight, height, and body composition associated with DMD and have attempted to measure measurements of changes in height over time and in non-steroid-treated individuals. In 1988, Griffiths and Edwards proposed a growth chart for DMD, which equates to a progressive loss of muscle tissue of 4% per year. However, there are not widely recognized growth charts specifically designed for boys with DMD and by the World Health Organization (WHO) and the Centers for Disease Control and Prevention (CDC). Growth charts are used to estimate growth for ages 0-24 months and 2-20 years, respectively, in a clinical setting. At birth, weight and height in boys with DMD is similar to standard distributions in boys, suggesting that disease progression is potentially responsible for differences in weight and height.

The weight

The percentage of men with DMD at the 90th weight-for-age percentile increases during childhood to 12 years; however, there is no significant difference in weight trends for boys who can walk and not receiving steroids compared with age-weight-height charts for boys aged 2-12 years. Despite the lack of steroid use, an increase in weight rate appears between ages 7-10 and continues to increase such that the average weight of boys with DMD who are able to walk and not receiving steroids is greater than the average on the CDC growth charts, suggesting that the increase weight loss with DMD is more difficult than increased appetite as a side effect of steroid use. Additional research also suggests that adolescents (9-17.7 years of age) are at greatest risk of overweight / obesity, while malnutrition and weight loss are of greater concern over the age of 18.

Height

Several studies show that children with DMD are lower than the average of a typical male child. These differences in height can be considered even before the age of 2 years, and 30% of children with DMD are between the ages of 2-5 years. There are significant differences in height between boys with DMD aged 2-12 when compared to the CDC growth charts for height / age.

However, this same study suggests a slight increase in growth rate around 10 years. These results indicate that short stature in DMD is independent of steroid use.

It has been suggested that low human growth hormone (HGH) levels are partially responsible for the short stature of men with DMD. Decreased muscle tone leads to poor bone growth - another hypothesis for the reasons for short stature. However, no studies have shown a significant correlation between specific markers of growth and muscle weakness, and the exact etiology of short stature in DMD remains unclear. Genetics can partially predict the outcomes of growth; short stature is more common in children with a distal deletion of the DMD gene. Central mutations are also associated with small stature, but to a lesser extent than distal deletions.

It is important to recognize the difficulty of measuring height in boys who have lost the ability to walk, which may explain why most studies assessing height have focused on the age at which children can walk, which usually occurs in a ten-year-old or early adolescence. Knee height, tibial length, and / or upper limb length can be used to assess growth in non-ambulant DMD patients, although it should be noted that measuring arm span requires the ability to keep the limbs straight, a possibility that may diminish over time in patients with MDD. Additional factors that affect the accuracy of height measurement include limited range of motion, contractures, and scoliosis.

Scoliosis and other curvature of the spine are common problems among children and adults with DMD and can affect 90% of patients. Scoliosis is of particular concern in non-ambulant patients, and prolonged mobility may reduce the severity of scoliosis. Curvatures of the spine tend to worsen during puberty; however, puberty often coincides with an increase in wheelchair dependence in DMD patients. Three main types of spinal deformity have been identified in DMD, which may include scoliosis, kyphosis, and / or lordosis. Spine surgery is commonly used to treat scoliosis. Non-surgical treatment for scoliosis involves the use of wheelchair modifications that provide additional head and neck support. Curvature of the spine not only affects overall growth, but there is a strong correlation between scoliosis and pulmonary function. Several studies advocate controlling scoliosis from loss of mobility using nonsurgical methods to prevent progression of scoliosis and ensure early surgical intervention.

Body mass index and body composition

Aside from the marked increases in weight and short stature, it is not surprising that body mass index (BMI) tends to be higher in children with DMD compared to CDC trends. Several studies show that BMI does not accurately represent body composition in this population. There are several methods used to measure muscle mass, but the most commonly used are dual energy X-ray absorptiometry (DEXA), bioelectrical impedance, and magnetic resonance imaging (MRI). Elliott et al hypothesized that bioelectric impedance is a minimally invasive, cost-effective way to measure body content in a clinical setting.

Body composition is of significant interest in DMD, as lean body mass has been shown to correlate with muscle function. The increase in fat mass may be associated with fatty infiltration of skeletal muscle in patients with DMD. For this reason, patients with DMD may have body weight and BMI within the normal range; however, these measurements do not provide information on the percentage of lean body mass. Tarnopolsky et al. Have shown that creatine monohydrate increases lean body mass and decreases bone breakdown. Although some studies measuring body composition in DMD patients report less muscle mass maintenance.

Comparative Standards for Caloric Content, Protein Requirements, and Fluid Requirements.

Assessing energy requirements in patients with DMD is challenging, especially when corticosteroids are used early, but also because of degenerative muscle loss throughout the illness. Currently, there are no predictive equations to help estimate energy in DMD patients who are on steroid treatment. In the early years, children with DMD move independently or with the help of orthoses. In later years, respiratory function is significantly reduced, requiring the use of mechanical ventilation. Predictive equations exist for intubated patients but are not specific to DMD.

Excess and malnutrition occur in about 54% of all DMD patients aged 10-13 years. Overeating, or obesity, has been suggested to be multifactorial in this population and may be associated with decreased physical activity and mobility, replacement of muscle with fat and connective tissue, and use of corticosteroids. Patients should not over-feed in an attempt to increase the body's muscle production. This practice is not only ineffective as it will not increase muscle synthesis, but it can also lead to excessive weight gain and obesity. Excessive weight gain impairs skeletal muscle health, which can increase the likelihood of orthopedic surgery. In addition, obesity can worsen the results of such treatment. Reduced nutrition can worsen muscle loss and affect physical performance in daily activities in people with muscular dystrophy. CDC BMI charts can assist practitioners in determining whether patients are in the over- or undernourished categories, but as mentioned, BMI may not be the most accurate predictor of nutritional status in patients with DMD.

Energy requirements

Resting energy expenditure (REB) is believed to be altered by DMD. REB is defined as the minimum amount of energy required to maintain metabolically active mass components without regard to adipose tissue. Approximately 30% of REB is consumed in the liver, 20% by muscle mass and 20% by the brain. Of the total energy consumption (WEM), the WER accounts for almost 60% -70%, the largest percentage of the total energy demand. To determine the RER, the REE is multiplied by activity factors based on the level of physical activity of the patient. While studies are limited by small sample sizes and complicate across a wide range of ages and stages of muscle dysfunction, several studies have shown that muscle loss in DMD is associated with lower RRR.

Shimizu-Fujiwara et al studied these indicators in a group of 77 patients with DMD, aged 10-37 years, and found that the RR in this population was significantly lower than normal. Hogan observed REB in 4 patients with DMD, ages 11-22, as well as in 2 patients with Becker muscular dystrophy, all of whom had lower REBs than the standard population. Hankard et al found that muscle loss was associated with lower REB in DMD boys with normal body weight. Gonzalez-Bermejo et al found that the RER was significantly lower (22%) in intubated DMD patients compared with non-intubated, healthy individuals. These data are consistent with other results showing that ventilated patients have a lower energy requirement. In contrast, Zanardi et al found that in 9 children with DMD aged 6-12 years, muscle loss was associated with lower REB.

The use of indirect calorimetry requires access to a metabolic box, which can be expensive, large, and requires regular maintenance and calibration, as even the smallest change in calibration can affect the results. An alternative to the metabolic box is the indirect calorimeter, which is more portable, more cost effective, and easy to operate. However, it cannot be used for intubated patients.

When indirect calorimetry is not feasible, predictive equations can be used. There are several equations to help estimate energy needs. In the DMD population, it was proposed to use the Schofield equation. The Harris-Benedict equation has been shown in 2 studies to overestimate energy needs. Because of their lower REB scores, boys with DMD do not require the same amount of calories as healthy children. Some literature suggests that the caloric requirement is estimated to be about 80% of the dietary requirement (DI) for outpatient boys with DMD and 70% of the DI for boys who have lost the ability to walk. Energy expenditures should be individualized based on movement and overall physical characteristics. Energy needs should be carefully assessed; negative energy balance can lead to loss of muscle mass that cannot be restored.

Obesity prevention is more beneficial than calorie restriction in patients who are already obese. However, obese patients with DMD require dietary adjustments to reduce the potential side effects of obesity.

Protein needs.

Little research has been done on the need for a specific protein in the DMD population. Protein intake should, at a minimum, match the ADP for age. Acceptable percentage for protein intake is 10% -30% of total calories for boys 4-18 years old.

There is currently no evidence that boys with DMD require additional protein.

Table 1 shows the energy and protein requirements for boys across all age groups.

Fluid requirements.

Currently, there are no guidelines for calculating the recommended fluid intake specifically for DMD. However, adequate fluid intake is recommended due to the increased risk of constipation due to low muscle tone. Drinking enough fluids can be limited by dysphagia, which gets worse as the disease progresses. The calculation of fluid requirements starts with an estimate based on the patient's body weight, but can be customized as needed. Fluid calculations based on height and weight are available, but should only be used when measuring accurate height, but due to discrepancies in measuring height in this population, these equations should be used with caution. Table 2 shows how to estimate fluid requirements based on the Holliday-Segar method.

Difficulty feeding and gastrostomy.

Feeding difficulties may be partially responsible for the weight loss in DMD in older adolescence and adulthood. A variety of difficulties in chewing and swallowing occur in patients with DMD. The most common are facial weakness, decreased chewing, and poor coordination of tongue movements. Macroglossia and malocclusion are also seen in some patients. These difficulties lead to increased food intake and more frequent choking. Self-feeding is another challenge for adult patients.

Changing the consistency of foods is one way to reduce chewing difficulties in patients with DMD. By consistency, foods can be divided into 4 main categories or diets for dysphagia. The Level 1 diet includes pureed foods, while the Level 4 diet includes all food consistencies. In addition, the viscosity of the fluid can be changed to make it easier for dysphagia patients to swallow.

As mentioned earlier, malnutrition and weight loss are common in DMD patients in late adolescence and older. Enteral feeding is an alternative to oral feeding. In a retrospective study of 25 patients with DMD, a gastrostomy tube was installed, the main cause was a decrease in weight gain, the secondary cause was dysphagia. In addition, gastrostomy placement has improved the nutritional status of many patients, but it is unclear whether gastrostomy can increase the duration and / or quality of life in patients with MDD.

Gastrointestinal complications

Complications associated with the work of the gastrointestinal tract (GI tract) are quite common in DMD. Such complications were reported by 47% of patients in a study by Pan et al.

Common gastrointestinal complications associated with DMD include constipation, reflux, and delayed gastric emptying.

Constipation

Constipation is the most common complication in DMD patients and increases with age. In a study by Pane et al, cited earlier, 36% of patients reported constipation, and 60% of these patients over the age of 18 were constipated. Constipation occurs more frequently in adult patients with DMD, according to this report, Boland et al. Report that smooth GI muscle involvement occurs in the second decade of life, while skeletal muscle involvement is often observed in the first decade of life. Constipation can result from a variety of factors, including colon smooth muscle involvement, stiffness, abdominal muscle weakness, and inadequate fluid intake. Boland et al reported that 21% of patients had lesions of gastrointestinal smooth muscle. Gottrand et al noted that 10 of 12 patients suffered from constipation and 7 of 12 had abnormal colon transit times.

Altered smooth muscle cell function is one possible explanation for constipation in DMD patients. However, fiber intake is another factor. A double-blind, randomized, placebo-controlled study by Weber et al found that daily dietary fiber intake leads to increased bowel movements and increased stool softness in a pediatric population with controlled chronic constipation. Despite these positive benefits, the high-fiber diet did not show a decrease in colon transit time among patients. Table 4 describes fiber requirement by age in boys 4-18 years old.

The approach to treating constipation is determined by the type of constipation the patient is experiencing. Laxatives are used for patients with an inadequate oral diet. Such drugs should be used with caution in immobilized patients with decreased motility, as they can lead to compression, which exacerbates the problem. Stimulants are useful when constipation is caused by slow transit times, and stool softeners are useful when the patient is having difficulty evacuating. Stimulants are used to treat acute constipation, osmotic laxatives such as magnesium hydroxide, lactulose, and polyethylene glycol 3350 may be needed daily if constipation persists.

Treatment for constipation should be individualized and take into account the cause and severity of the problem. Many patients must use a treatment regimen for chronic constipation that includes supportive therapy, including using stool softeners, and appropriate eating habits, including a high fiber diet and ensuring adequate fluid intake. It is important to recognize and adequately deal with constipation, as constipation can lead to decreased appetite and thus reduce oral intake, which is especially problematic for patients who are already malnourished.

A complication associated with chronic constipation and its treatment with laxative enemas is severe metabolic acidosis, a potentially life-threatening condition. Symptoms may include decreased fluid and food intake, abdominal pain, and bloating. A study by Luo Casio et al found that 8 out of 55 DMD patients aged 20-36

Have had metabolic acidosis for 5 years. All patients received treatment for chronic constipation with laxatives and enemas and were on positive pressure ventilation.

Metabolic acidosis resulted from intestinal loss of bicarbonate from diarrhea or from laxative enemas. Other factors in the development of metabolic acidosis include inadequate calorie intake and dehydration.

Delayed gastric emptying / reflux

Another complication is related to the altered function of gastric smooth muscles, as a result, gastric emptying is delayed. Borreli et al showed that the time to empty the stomach in patients with muscular dystrophy is significantly longer than in the control group, and also increases as the disease progresses. This is significant because delayed gastric emptying can contribute to gastroesophageal reflux and malnutrition due to delayed delivery of nutrients to the intestines.

Reflux is also a complication associated with DMD; however, in a survey of patients with DMD, only 4% (5 of 118) require medication for gastroesophageal reflux. Although nutritional adjustments should be recommended for patients experiencing reflux symptoms, some patients with DMD may require drug therapy, including proton pump inhibitors or H2 receptor antagonists. Second-line drugs such as prokinetics, sucralfate, and antacids may be needed in combination with proton pump inhibitors. It is considered common practice to prescribe proton pump inhibitors for patients on corticosteroid therapy to avoid complications, including gastritis or ulcers, and to prevent reflux.

Corticosteroid treatment and nutrition

The effects of corticosteroid treatment, such as prednisone or deflazacort, can alter the natural course of illness in DMD. The benefits of steroid treatment include extending the ability to walk by 2-5 years, reducing the need for surgical correction of the spine, improving cardiac function and thus reducing the risk of cardiomyopathy, delayed onset of ventilation, and improved quality of life. One study from 2007 found that daily and long-term use of corticosteroids extended mobility by 3.3 years, while a more recent 2014 study found that daily treatment extended locomotion by 2 years.

Daily treatment has been shown to be more effective than an alternative, intermittent schedule. Corticosteroids are usually prescribed before the onset of movement problems, around 6-7 years, and are taken over a period of 3-10 years.

bones

Corticosteroid treatment is not without side effects. Decreased bone mineral density is a common side effect of corticosteroid therapy that requires special medical attention. Other side effects of steroids include behavioral changes, stunted growth, abnormal weight gain, cataracts, delayed puberty and, to a lesser extent, impaired glucose tolerance, hypertension, decreased resistance to infections, and gastrointestinal irritation.

The effects of corticosteroid treatment, combined with reduced mobility, increase the risk of decreased bone mineral density in patients with DMD. However, recent studies have shown that even before treatment begins, children with DMD may have low serum 25-hydroxyvitamin D levels and poor bone health at the time of diagnosis. In addition, it has been noted that increased bone metabolism and low serum 25-hydroxyvitamin D levels occur in all DMD patients with or without steroid treatment. Over time, poor bone health can lead to fractures, which is indicative of osteoporosis. DEXA scans are recommended for assessing bone mineral density.

Dietary adjustments promote adequate bone mineralization and include adequate calcium and vitamin D intake, especially in patients receiving corticosteroids. The recommended elemental calcium intake for boys 4-8 years old is 1000 mg / day and increases to 1300 mg / day for boys aged 9-18 years. After 18 years, 1000 mg / day of calcium is recommended. Calcium-rich food sources: dairy products (milk, yogurt, and cheeses), leafy greens (kale, broccoli, Chinese cabbage), canned fish (sardines and salmon), and fortified foods (some cereals, non-dairy milk substitutes, and bread ). The recommended intake of vitamin D for all ages after infancy is 600 IU / day. Diets rich in vitamin D include fish oil, dairy products, fortified non-dairy milk replacers, and canned foods. The sun converts vitamin D into active vitamin; patients with reduced physical activity and / or wheelchair users are less likely to walk in the sun.

Supplements can be used to ensure adequate intake of calcium and vitamin D. Two main forms of calcium supplements are widely available: calcium citrate and calcium carbonate. Calcium citrate can be considered preferable due to the improved absorption properties, the ability to take with or without food, and the reduction of gastrointestinal side effects. For patients receiving H2 receptor antagonists or proton pump inhibitors, calcium citrate is recommended due to the absence of the need for an acidic environment for adequate absorption. However, the disadvantages of calcium citrate include cost and tablet size; calcium citrate contains a lower percentage of elemental calcium than calcium carbonate (21% versus 40%, respectively).

Calcium carbonate can be given in the form of antacids, which can contain 200-400 mg of elemental calcium. This option can improve adherence to proper taste and ease of administration, and can also help treat gastrointestinal symptoms caused by corticosteroids. Many calcium supplements also contain vitamin D, ranging from 200-400 IU per tablet, reducing the need for additional vitamin D supplementation.

Weight gain

In the DMD population, obesity has been reported in young patients from 7 years of age.

Weight gain is one of the most common side effects of long-term corticosteroid use. However, it has been observed that many DMD patients are obese even without corticosteroid treatment. For DMD patients, being overweight makes mobility even more difficult. As mentioned above, deflazacort has not been shown to have the weight gain effect associated with steroid treatment. Deflazacort is not currently available in the United States.

Risks associated with obesity include insulin resistance, dyslipidemia, hypertension, obstructive sleep apnea, and psychological consequences.

Recommendations for weight management should be made prior to starting steroid treatment, with the expectation that abnormal weight gain may occur. Basic principles of weight management can be tailored to the patient and family's needs and can include dietary changes, exercise, and behavior modification. Dietary intervention and weight loss strategies: Reducing sugar-sweetened beverages and high-calorie dense foods, reducing meals outside the home, and using the MyPlate model to increase your intake of fruits and vegetables. Behavior modification techniques include consuming food from the family table and encouraging patients to eat slowly.

Complementary and Alternative Medicine.

Complementary and alternative medicine is used in pediatric patients with DMD. The study examines the use of complementary and alternative medicine in 80% of 200 caregivers of children with DMD and Becker muscular dystrophy reported having "someday" used complementary and alternative medicine for their child. There are many different types of complementary and alternative treatments, and their frequency of use varies. Alternative medicine, including aquatherapy, hippotherapy, self-hypnosis, prayers, and pets, are most commonly used (61.5%), as reported in a study by Nabucker et al. The following practices were biologically based: herbs, diet modification, megavitaminization, and glycoproteins in 48%. Manipulative practices such as massage, chiropractic, and osteopathic manipulation were used by 29% of caregivers, and 8.5% reported using treatments involving entire medical systems: acupuncture and homeopathy.

Chinese medicine is another area of interest in the field of complementary and alternative medicine. One study observed a decrease in post-exercise damage in normal muscles after taking ginseng supplements in patients with DMD. It is important to consider the risks associated with Chinese medicine though, as it is not officially regulated and improper dosage and unknown drug content can have harmful consequences.

Antioxidants, including coenzyme Q10 and green tea extract, are of interest for their ability to reduce oxidative damage in cells, including muscle tissue, are currently being studied. There is evidence that green tea extract in the diet of MDX mice reduces muscle damage and improves muscle function. The International Research Group conducted a pilot study of coenzyme Q10 in thirteen 5- to 10-year-old DMD patients who had been on a regimen for at least 6 months. Coenzyme Q10 treatment has been shown to increase muscle strength by 8.5% when taken in addition to prednisone. The study authors recommend an initial dose of 400 mg / day, increased by 100 mg / day according to serum CoQ10 levels.

Muscle inflammation in DMD is of interest because chronic inflammation is thought to contribute to the development of DMD disease. Muscle fibers are less capable of regeneration with chronic inflammation and, ultimately, leads to the replacement of adipose and connective tissue. Reducing inflammation has been shown to improve muscle function in MDX mice. Resveratrol, a polyphenol with antioxidant properties, may reduce inflammation in skeletal muscle. A study of MDX mice showed that resveratrol reduced macrophage penetration and increased atrophin expression 10 days after receiving 100 mg / kg resveratrol. has a structure similar to dystrophin and can functionally replace dystrophin.

Amino acids, including taurine and glutamine, have been studied. Taurine has been observed to preserve muscle strength and improve the rate of degeneration-regeneration in MDX mice. Glutamine is a precursor for glucose synthesis. It is produced primarily by skeletal muscle and is the most abundant free amino acid in the body. Intramuscular glutamine concentrations are low in patients with DMD.

Given that DMD patients already have low intramuscular glutamine concentrations and that glutamine is produced by the muscles, the need for glutamine may be increased. Two separate studies show that oral glutamine inhibits whole body protein degradation in DMD.

While this is promising, it is important to note that there was no specific advantage of glutamine versus the amino acid blend, as they both equally inhibit protein degradation throughout the body.

While the benefits of using glutamine have been reported, the negative effects of supplementation must also be considered. As previously reported, the side effects of long-term glutamine supplementation include altered amino acid transport as a result of impaired amino acid absorption, altered glutamine metabolism, and altered ammonia. In addition, further research is needed to determine the effects of long-term glutamine supplementation on the immune system and whether the risk of cancer increases with glutamine use. There may also be a withdrawal syndrome after stopping long-term glutamine intake. The body adapts to consuming large amounts of glutamine by increasing the breakdown of glutamine and decreasing the synthesis of endogenous glutamine.

Creatine leads to improved muscle health by reducing muscle necrosis in MDX mice, and creatine monohydrate supplementation for 4 months in DMD patients resulted in increased upper limb strength and decreased fat mass. Creatine monohydrate can be used in the absence of or in addition to corticosteroid therapy. Further research may determine the optimal dosage of creatine monohydrate supplementation for maintaining lean body mass.

conclusions

While there are many ways to control the symptoms of DMD, either with steroids to prolong mobility or other methods to improve quality of life, there is no cure for DMD.

Clinicians have the challenge of making treatment possible. Much of the nutritional research associated with DMD is limited to small sample sizes, but some trends are visible in many studies. Comparison of growth curves and energy requirements in DMD patients with unaffected individuals may provide some information about the course of the disease. However, maintaining lean body mass has the highest priority as it has the potential to improve quality of life and possibly extend the short life span of DMD patients.

Myopathies- These are primary muscular dystrophies, hereditary degenerative diseases, which are based on damage to muscle fibers and progressive muscle atrophy.

Causes of myopathy

Myopathies are diseases of metabolic disorders in the muscle, the level of creatine phosphokinase increases and the muscle loses its ability to bind and retain creatine, the content of ATP decreases, which leads to atrophy of muscle fibers. The theory of “defective membranes” through which muscle fibers lose enzymes, amino acids is recognized ... Violation of biochemical processes in muscles ultimately leads to damage and death of muscle fibers.

Myopathy symptoms

Primary myopathy begins gradually in most cases in childhood or adolescence.

Myopathic manifestations can be markedly intensified under the influence of a variety of adverse factors - infection, overexertion, intoxication.

The disease begins with the development of weakness and atrophy of a certain muscle group. In the future, the dystrophic process captures all new muscle groups, which can lead to complete immobility. The muscles of the pelvic and shoulder girdle, trunk and proximal extremities are mainly affected. The defeat of the muscles of the distal extremities is rare in severe cases. Muscle atrophy is usually bilateral. In the initial period, there may be a predominance of atrophy on one side, but with the course of the disease, the degree of muscle damage becomes the same in symmetrical muscles. As atrophies develop, muscle strength decreases, tone decreases, tendon reflexes decrease. With atrophy of some muscle groups, others can be hypertrophied (increase) compensatory. However, pseudohypertrophy develops more often - muscle volume increases not due to muscle fibers, but due to an increase in adipose tissue and connective tissue. These muscles become tight, but not strong.

There may be an increase in mobility in the joints, or, on the contrary, the range of motion may decrease due to the shortening of muscles and their tendons.

Depending on a number of features and, first of all, on age, onset of the disease, intensity and sequence of manifestation and growth of atrophies, the nature of inheritance of myopathy is divided into a number of forms. The most common: the youthful (juvenile) form of Erb, the shoulder - scapular - facial form of Landouzy - Dejerine and pseudohypertrophic Duchenne.

In addition, there are variants of genetically heterogeneous (diverse) forms. Nosological forms of myopathies with different types of inheritance are described. Within the framework of one genetic variant, allelic series (different forms of the same gene) are distinguished, caused by different mutations in the same gene. In genocopy with a similar clinical picture, a more favorable course, long-term compensation, abortive forms and a very severe one with early disability are possible.

Examination for myopathy

Typical clinical signs of myopathies are symptoms of flaccid paralysis in various muscle groups without signs of damage to motor neurons and peripheral nerves.

The electromyogram reveals a typical primary muscle pattern, characterized by a decrease in the amplitude of the M-response, increased interference and polyphasic potential.

During a biopsy (examination of a piece of muscle, atrophy, fatty degeneration and necrosis of muscle fibers with proliferation of connective tissue in them is revealed. In some nosological forms, changes in muscle fibers specific to congenital benign structural myopathies) are revealed, such as the central location of nuclei or the presence of framed vacuoles.

In a blood test, an increase in the activity of creatine kinase, aldolase, lactate dehydrokinase and other enzymes can be detected.

In the urine, the level of creatine and amino acids increases and the level of creatinine decreases.

Accurate diagnosis of individual nosological forms is possible only when carrying out molecular genetic analysis aimed at identifying mutations in a particular gene and, in some cases, studying the concentration of a particular protein in a muscle fiber biopsy.

Myopathies are hereditary diseases and in the early stages of the disease, an examination of all family members may be required for diagnosis.

General clinical symptoms:

increasing atrophy of the muscles of the shoulder and pelvic girdle, proximal extremities;
atrophies prevail over the severity of muscle weakness;
the presence of compensatory pseudohypertrophies;
slowly progressive course;
dystrophy of the heart;
the presence of autonomic disorders.

Juvenile Erb.

This form is inherited in an autosomal recessive manner.

The onset of the disease occurs in the second - third decade. Both men and women are ill.

Atrophies begin in the muscles of the pelvic girdle and thighs and extend to the shoulder girdle and trunk muscles. Pseudohypertrophies are rare. Patients get up leaning on the surrounding objects - climbing "ladder". As a result of atrophy of the muscles of the back and abdomen, a forward curvature of the spine appears - hyperlordosis, the waist becomes "aspen".

"Wasp" waist and hyperlordosis in a patient with myopathy.

The gait is disturbed - patients waddle from side to side - "duck" gait. Lagging "pterygoid" scapulae are characteristic. Muscles around the mouth are affected - it is impossible to whistle, stretch the lips with a tube, smile (transverse smile), lips bulge (tapir lips).

The later the disease manifests itself, the more favorable it proceeds. Early onset is difficult, leading to disability and immobility.

Duchenne pseudohypertrophic form.

It is inherited in a recessive sex-linked pattern. The most malignant myopathy.

It begins most often in the first three years of life and less often from five to ten years. Boys are sick. Symptoms begin with atrophy of the buttocks, pelvic girdle muscles, and thighs. Pseudohypertrophy of the gastrocnemius muscles appears early. The process quickly engages all muscle groups. It is difficult for a child to get up from the floor, climb stairs, jump. As he progresses, he becomes bedridden. Joint contractures and bone deformities occur. It is possible to develop Itsenko-Cushing's syndrome (obesity, endocrine disorders). In some cases, there is mental retardation. With this form, the heart muscle, respiratory muscles are affected. Patients die from pneumonia against the background of heart failure.

Becker's myopathy.

A mild variant of sex-linked myopathy.

Begins after 20 years. It is manifested by pseudohypertrophy of the lower leg muscles (calf muscles). Atrophies of the pelvic girdle and hips join slowly. There are no mental disorders.

Shoulder-scapular - facial form of Landusi - Dejerine.

It is inherited in an autosomal dominant manner. Both boys and girls are ill.

The disease begins at 10 - 20 years old with atrophy and weakness of the muscles of the face. Then the process involves the muscles of the shoulder girdle, shoulders, chest muscles, shoulder blades.

Atrophy of the back muscles of a patient with myopathy Landouzi - Dejerine a.

The pelvic girdle is rarely affected. With the defeat of the circular muscle of the mouth, the patient cannot correctly pronounce vowels, whistle. The lips are pseudohypertrophied and appear large. With atrophy of the circular muscles of the eyes, the forehead becomes smooth, it is difficult to close the eyes, the patients sleep with their eyes open. Facial expressions become poor (hypomimic) - "myopathic face", the face of the "sphinx". The mental faculties are not affected.

The course is slow, patients can remain mobile for a long time and do their best work. The earlier the disease begins, the more severe its course. This form of myopathy does not significantly affect life expectancy.

Other forms of myopathies are rare: ophthalmoplegic (as a mild variant of the shoulder-scapular - facial), distal (the distal parts of the limbs are affected at the age of 40-60 and progresses very slowly).

There are also myopathies - congenital - slowly progressive: myopathy of the central core, filamentous myopathy, central - nuclear, myopathy with giant mitochondria and not progressive - Oppenheim's myotonia (sluggish child). They differ in changes in the structure of muscle fibers, which are detected during histological examination under a microscope. The disease is based on a deficiency of various metabolic enzymes. Patients have endocrine disorders, impaired liver and kidney function, heart muscle, visual impairment.

Treatment of myopathies

Treatment is symptomatic, ineffective. Pathogenetic treatment is being developed, many institutes in different countries are conducting research at the gene level - using both stem cells and cell cultures ... but this is the medicine of the future.

Symptomatic treatment is aimed at influencing metabolic processes, especially protein, normalizing the functions of the autonomic nervous system, improving neuromuscular conductivity. Anabolic hormones (nerobol, retabolil, amino acids (glutamic acid, cerebrolysin, ceraxon, somazin), ATP, vitamin therapy (E, B, C, nicotinic acid), anticholinesterase drugs (proserin, neuromidin) are used. , physiotherapy - electrophoresis with proserin, neuromidin, nicotinic acid, muscle stimulation, light massage, ultrasound In some cases, orthopedic correction is indicated - shoes, corsets.

All patients are monitored by a neurologist with the assistance of a therapist, cardiologist, orthopedist - traumatologist.

Doctor's consultation on myopathy

Question: is a diet necessary for myopathy?
Answer: yes, you need to eat more fresh vegetables and fruits, milk, cottage cheese, eggs, oatmeal, carrots, honey, nuts. Coffee, tea, spices, alcohol, sugar, potatoes, cabbage are not recommended.

Question: are myopathy treated with stem cells?
Answer: such techniques are being developed, you can consult individually at the stem cell clinic in Moscow

Doctor neurologist Kobzeva Svetlana Valentinovna

It belongs to a group of diseases characterized by progressive muscular dystrophy. Myopathy is a chronic pathology of the neuromuscular system. In addition, it is hereditary. The emergence of myopathy is also due to complications of various kinds: infectious diseases, injuries, colds, etc. There is an assumption that the cause of the disease is a pathological violation of metabolic processes of cyclic nucleotides, which are universal regulators of cyclic metabolism responsible for the implementation of genetic information.

It has been established that the carriers of myopathy are women, but only men suffer from it. This picture is observed in 50% of cases.

In patients with myopathy, cardinal disorders of the nervous system are not observed, although there is a decrease in the cells of the anterior roots of the spinal cord. The most significant pathological changes occur in the striated muscles: they become thin, and most of their fibers are replaced by connective tissue and fat. At the same time, characteristic changes in muscle fibers are observed: they are randomly intertwined with healthy fibers. Muscle fibers are split along, forming vacuoles.

During the course of the disease, there is a gradual replacement of muscles with adipose or connective tissue. This leads to progressive (partial or complete) muscle atrophy. During the course of the disease, patients noticeably lose weight, and they also have paresis.

The atrophy process proceeds rather slowly, muscle groups are affected unevenly, therefore, patients with myopathy are able not only to serve themselves, but also continue to be efficient. At the same time, they retain sensitivity in the limbs, and motor functions (coordination of movements) are not impaired either.

In the final stage of the disease, the patient has pathological disorders of cardiovascular activity, while there are drops in body temperature and pulse, an increase in sweating is observed, and respiratory activity worsens.

Usually, during the treatment of myopathy, doctors prescribe a course of vitamins to patients, in addition, they recommend doing light massage and physiotherapy exercises. Since patients with myopathy are often susceptible to infections and colds, they must be protected. In addition, for such people it is advised to provide a quiet, calm atmosphere in the house.

Manchurian aralia tincture

It must be taken 15-20 drops together with cooled boiled water 1-2 times a day.

Infusion of Siberian hogweed

Pour dry hogweed herb (3 teaspoons) with 2 cups of cold boiled water and leave for 2 hours. After that, strain the infusion through cheesecloth.

The prepared infusion (preferably cold) should be taken in 0.25 cups 4 times a day before meals.

Valerian officinalis

This plant is widely known for its medicinal properties. When treating myopathy, it is appropriate to use valerian, since it helps to reduce reflex excitability and weakens muscle spasms.

1. Insist dry rhizomes and roots of valerian (1 tablespoon) for 12 hours in a closed glass with cooled boiled water. Take this infusion should be 1 tablespoon 3-4 times a day before meals.

2. Rhizomes and roots of valerian to insist on vodka or 70% alcohol in a ratio of 1: 5 for 1 week. After that, strain the tincture through cheesecloth. This remedy should be taken 15-20 drops 3-4 times a day.

Store this tincture in a cool dry place.

Three-leaf watch

1. Leaves watch (5 g) insist in 1 glass of boiled water, then strain. You need to take this infusion in 0.25 cups 4 times a day before meals.

2. Powders from watch leaves should be taken 1 g 2 times a day 30 minutes before meals.

3. Leaves of the watch (0.5 teaspoon) to insist in cold water for 8 hours. Take the prepared infusion should be 0.5 cups 2-4 times a day 30 minutes before meals.

In addition to the above recipes of traditional medicine, in the treatment of myopathy, it is recommended to eat cherries, which improve the patient's appetite and are considered a means of calming the nerves.

Nutritional therapy for stress and diseases of the nervous system Tatyana Anatolyevna Dymova

Myopathy

It has been established that the carriers of myopathy are women, but only men suffer from it. This picture is observed in 50% of cases.

Manchurian aralia tincture

It must be taken 15-20 drops together with cooled boiled water 1-2 times a day.

Infusion of Siberian hogweed

Pour dry hogweed herb (3 teaspoons) with 2 cups of cold boiled water and leave for 2 hours. After that, strain the infusion through cheesecloth.

The prepared infusion (preferably cold) should be taken in 0.25 cups 4 times a day before meals.

Valerian officinalis

This plant is widely known for its medicinal properties. When treating myopathy, it is appropriate to use valerian, since it helps to reduce reflex excitability and weakens muscle spasms.

1. Insist dry rhizomes and roots of valerian (1 tablespoon) for 12 hours in a closed glass with cooled boiled water. Take this infusion should be 1 tablespoon 3-4 times a day before meals.

Store this tincture in a cool dry place.

Three-leaf watch

1. Leaves watch (5 g) insist in 1 glass of boiled water, then strain. You need to take this infusion in 0.25 cups 4 times a day before meals.

2. Powders from watch leaves should be taken 1 g 2 times a day 30 minutes before meals.

3. Leaves of the watch (0.5 teaspoon) to insist in cold water for 8 hours. Take the prepared infusion should be 0.5 cups 2-4 times a day 30 minutes before meals.

• Library • • Diet in the treatment of myopathy

Diet in the treatment of myopathy

During the treatment of muscle diseases (myopathy), it is necessary to follow a certain diet: do not drink alcohol, limit the consumption of spicy, salty and fatty foods, as well as meat, do not smoke. A dairy diet with intermittent short fasts is recommended. After fasting, it is advisable to eat only milk (unpasteurized and unboiled). Increase the amount of milk gradually to the maximum (how much the patient can drink). Powders made from burnt bones and chalk give good results (see the Appendices section).

Useful cereals on water from sprouted grains of cereal plants (oats, wheat, rye, barley, etc.) with honey and sunflower oil, salads from celery, turnip leaves (contain all the substances necessary for muscle nutrition). You should eat 2-3 apples a day (preferably "Antonovka" variety). With food, a sufficient amount of vitamins of group B and E should enter the body. As a source of vitamins of group B, the liver is very useful, from which you can make pate. The liver is fried for a short time, passed through a meat grinder, mixed with butter and spread on bread. Vitamin E is found in green beans, peas, lettuce, oats, wheat, corn, sea buckthorn and sunflower oil. It is necessary to get 20-30 g of vegetable fats per day.

"Diet in the treatment of myopathy" and other articles from the section Diseases of the musculoskeletal system