Do you know the symptoms of 'muscular dystrophy'?

 

Muscular dystrophy is a term that summarizes hereditary skeletal muscle breakdown. There are various disease types and diseases, each with a different timing, method, and course of symptoms. It is designated as an incurable disease and there is no curable treatment. This time, I will explain in detail the symptoms, causes, typical diseases, and treatment methods that can be seen in muscular dystrophy.

What is muscular dystrophy?

It is a term that summarizes hereditary diseases in which the skeletal muscles that move the body are damaged. Slowly, muscle weakness and muscle atrophy develop, and motor function becomes impaired. There are several disease types, each with different symptoms or characteristics.

muscular dystrophy symptoms

It shows the following symptoms, such as symptoms caused by impaired body movement as skeletal muscle is damaged, symptoms caused by decreased heart or intestinal function, and complications.

• Gait disorder, hand-foot dysfunction
• Difficulty chewing, swallowing, or swallowing food incorrectly
• dysarthria (decreased ability to pronounce speech)
• Ptosis (eyelids go down)
• Difficulty closing the eyes
• expression is poor
• Contracture (joints stiffen and harden), limited range of motion in the joint, deformity of the joint
• weaken bones
• bad teeth and bite
• can't spit
• get hard to breathe
• intellectual disability, developmental disability
• heart failure
• arrhythmia
• malnutrition
• Constipation, gastrointestinal dysfunction
• cataract, retinopathy
• deafness
• convulsion

Causes of muscular dystrophy

It is caused by a genetic mutation that disrupts the function of a protein, making it impossible to maintain normal cell function. Mutations in the same gene can sometimes cause different symptoms. Conversely, there are cases in which similar symptoms can occur even when other genes are mutated. Many genes that cause disease have been discovered, and the mechanisms of disease are being elucidated, but there are still many disease types for which the causative gene has not been found.

Common diseases of muscular dystrophy

Disease types are classified according to the site of disorder of protein related to muscle function, and disease names are divided according to the course of symptoms and characteristics. Typical examples are the Duchenne type, the Becker type, the retarded type, the facial scapular type, and the congenital muscular dystrophy. In addition, ophthalmoplegia, myotonic dystrophy, and Emery-Dreyfus muscle dystrophy are also known.

Duchenne muscle dystrophy

It is caused by a deletion in a part of the disc trophin gene. Although the age of onset and the speed at which symptoms progress varies depending on the individual, it is usually found at the age of 3 to 5 years with symptoms such as being prone to falling and not being able to run. It follows the process of becoming unable to walk back and forth.

As joint contracture and scoliosis progress, respiratory failure and cardiomyopathy may also be seen by the age of 10 years. Life expectancy, which used to be in the late teens, is now increasing to the 30s. Hypercreatine kinase (CK)emia, which appears to be a disorder of muscle cells, is often detected before the onset of the disease.

Becker's muscular dystrophy

It is caused by an abnormality in the disc trophin gene and a decrease in its quantity. Symptoms are similar to those of the Duchenne type, but the onset of the symptoms is slower than that of the Duchenne type, and the average person has difficulty walking in their 30s. Some of them do not show symptoms even after middle age. Compared to the Duchenne type, cardiomyopathy and intellectual disability tend to be somewhat higher.

limp muscle dystrophy

It is impossible to classify it as another type of disease such as Duchenne type, Becker type, or congenital type because the muscle weakness and muscular atrophy of the shoulder girdle close to the center of the body were observed. The causes are multifaceted. Most have an autosomal recessive form of inheritance (type 2), but rare cases of a dominant inheritance (type 1). The onset ranges from children to adults, and the symptoms are milder and progress slower than the Duchenne type. You may see symptoms for the first time, such as being prone to symptoms in the muscles of the legs, inability to run, easy to fall over, and difficulty going up and down stairs.

Facial scapula brachii dystrophy

In particular, the facial muscles and the muscles around the scapula are impaired, so it progresses slowly. It develops from infants to adults, and from around the age of 10, symptoms such as difficulty in raising arms, lack of expression, and not rinsing the noodles begin to appear. Most cases develop until the age of 20, but there are cases in which the muscle strength of the face only decreases even as an adult. The muscles in the legs also gradually become impaired, making walking difficult and living in a wheelchair.

congenital muscle dystrophy

Onset from infancy, as with zone muscle dystrophy, the causes are multifaceted. Among them, the ratio of Fukuyama-type congenital muscle dystrophy, which is caused by an enzyme called bactin, is high. Decreased muscle tone and muscle tone of the whole body including facial muscles are recognized than in newborns and early infancy. Motor development peaks at the age of 5 to 6 years, and muscle atrophy progresses after age 6.

Symptoms of joint contracture and joint motion limitation are early entanglement, and are often accompanied by eye disorders, moderate to severe intellectual disability, and convulsions.

Muscular dystrophy examination subject

For children, departments such as pediatrics and pediatric neurology, and for adults, neurology, cranial neurology, and such disease centers are specialties. If you notice muscle weakness or motor dysfunction due to its atrophy, see a medical institution that has experience in treating muscular dystrophy. If a relative or family member is suffering from muscular dystrophy and is not yet showing symptoms, you can consult with a medical institution that offers genetic counseling.

Tests done with muscular dystrophy

Blood test, electromyography, imaging test, myologic examination, genetic diagnosis, heart function and respiratory function test, etc. are performed. Blood tests check the levels of CK, AST, ALT, LDH, and alderase, which are elevated when there is a muscle disorder. Electromyography checks for muscle abnormalities, X-ray examination checks for pneumonia or pneumothorax, and imaging examinations such as CT, MRI, and ultrasonography check for characteristic muscle findings. For a definitive diagnosis of the disease type or disease, muscle is collected and examined, and genetic diagnosis is performed. To evaluate cardiac and respiratory function, electrocardiography, choco, respiratory function tests, and myocardial scintigraphy are also performed.

Gender and age differences in muscular dystrophy

Patients with mild motor dysfunction have a high rate of not seeing a doctor, and there are no accurate statistics on muscular dystrophy. It indicates the characteristics according to the disease type or disease. Duchenne and Becker tend to have a lot of boys. The most common congenital muscle dystrophy is the Fukuyama-type congenital muscle dystrophy, and the second most common childhood muscle dystrophy after the Duchenne type. Retardant or facial scapular type shows symptoms in a wide range of age groups, from children to adults. The prevalence per 100,000 population is 4.8 cases of Duchenne type, 2.0 cases of facial scapula type, 1.5~2.0 cases of retarded type, 1.5 cases of Becker type, and 0.4~0.8 cases of congenital type.

How to treat muscular dystrophy

There is no radical cure at this time. It is basic to check the functions and complications of the body with regular examinations and to take measures for possible disorders in the future. Rehabilitation treatment to maintain quality of life, respiratory function and cardiac function, mastication and swallowing function, deterioration of motor function and spinal deformity continue. In recent years, such as steroid treatment for Duchenne muscular dystrophy and drugs that are effective for certain types of patients, medical advances for other types and diseases have been dazzling, and new drugs are being developed one after another.

rehabilitation treatment

For the purpose of maintaining the present function and life as much as possible, and to prevent injuries and fractures, we perform joint mobility training, adjustment of equipment and wheelchairs, IT support for independence and social participation in everyday life, environmental adjustment, etc. .

If there is a decrease in respiratory function, respiratory rehabilitation is performed to keep the lungs soft and sputum to come out easily. If there is a decrease in mastication or swallowing function, swallowing training or diet adjustment is performed to prevent accidental swallowing. For joint contractures of the legs and deformation of the spine and rib cage, along with joint movement training, training to maintain the upper left and upper leaf posture, wearing a corset that does not promote deformation, adjusting the seating, and teaching posture and movement, etc. .

Treatment for deterioration of each function and spinal deformity

For respiratory failure, a ventilator is used to assist breathing. Non-invasive positive pressure ventilation with no tracheostomy and wearing a mask is common. For heart failure, it is a drug that protects the heart and is mainly treated with adequate sleep, regular life, weight control, and lifestyle management. If there is arrhythmia, ablation is performed with drug therapy, a pacemaker/defibrillator, or a cardiac catheter. If there is a decrease in heart function, the heart function deteriorates due to an infectious disease, etc. and it can become a serious condition, so it is important to check the heart condition regularly and continue appropriate treatment.

If you are unable to get enough nutrition because of poor swallowing function, or if you are at high risk of swallowing incorrectly, consider returning to the farm. If the deformation of the spine or rib cage is strong, it will be difficult to construct the farm, so a quick review is desirable. Spinal fixation may be performed if the deformity of the spine or rib cage is strong and it affects breathing function or if it is not possible to maintain a sitting position. It is important to check the condition of the spine with regular x-ray examinations so that an appropriate response can be taken early.

organize

Muscular dystrophy is a generic term for a hereditary disease that causes muscle weakness. Depending on the type or disease, the age at which symptoms appear and the course of the disease vary. Since there is no curative treatment, it is important to maintain the current function as much as possible through rehabilitation or environmental adjustment, while maintaining independence in daily life and participation in social life to improve the quality of life. In addition, respiratory function, cardiac function,

Let's get regular check-ups so that we can start appropriate treatment tailored to the decline in lower function and deformity of the spine, and take a forward-looking response.