Introduction
Muscular dystrophyIt is a group of primary skeletal muscle necrotic diseases characterized by progressive skeletal muscle weakness caused by genetic factors. It is mainly characterized by progressive and aggravated skeletal muscle atrophy and weakness of varying degrees and distribution. Can also affect the heart muscle.
Cause
The cause of this disease is genetic abnormality, which can be carried out in different ways in different types, but the mechanism by which genetic factors ultimately cause muscle degeneration is unclear.
symptom
According to typical genetic forms and major clinical manifestations, muscular dystrophy can be classified into the following types:
(1) False fat large: It belongs to X-linked recessive inheritance and is the most common type. According to clinical manifestations, it can be divided into Duchenne type and Becker.
1. Duchenne type malnutrition (DMD): also known as severe pseudo-fat large-scale malnutrition, almost only seen in boys, if the mother is a gene carrier, 50% of male offspring, usually starting from 2-8 years old, The initial sense of walking benzene sputum, easy to fall, can not run and board the building, standing scalp, abdomen out, two feet open, walking slowly swinging, showing a special "duck step" gait, when walking from the back is very difficult, You must first roll over and prone, then climb your knees with both hands and gradually support the standing up (Gower sign). Can also be seen in the proximal muscles of the limbs, quadriceps and arm muscles.
2, Becker type (BMD): also known as benign pseudo-hypertrophic muscular dystrophy, often onset after 10 years of age, the first symptom is pelvic and femoral muscle weakness, slow progress, long course, 25 years after symptoms appear Or 25 years or more can not walk, most of them do not occur in the 30-40 years old, the prognosis is better.
(B) face shoulder - sacral muscular dystrophy: both men and women, adolescent onset, first facial muscle weakness, often asymmetrical, can not show teeth, lips. Closed eyes and frowns, the orbicularis muscles may have pseudohypertrophy, resulting in thick lips and lips, and some shoulder and ankle muscles are first affected, so that the two arms can not be lifted up to the shoulder, the upper arm muscles shrink, but Forearm and hand muscles are not invaded. The course of the disease is extremely slow and often frustrated or relieved.
(three)Limb muscular dystrophy: Both sexes are common, starting from children or young people, first affecting the pelvic belt muscles and psoas muscles, walking difficulties, can not go upstairs, gait swing, often fall, and some only involve the quadriceps. The course of the disease is extremely slow.
(D) other types: quadriceps type, distal type, progressive extraocular muscle paralysis type, eye muscle-pharyngeal muscle type, etc., very rare.
diagnosis
Identification
1. Juvenile proximal spinal muscular atrophy This disease is also known as (Kugelberg-welder, progressive muscular atrophy), which is an autosomal dominant genetic disease. The onset of adolescents is mainly characterized by proximal muscle atrophy of the extremities, symmetric distribution, similar to myopathy, but fasciculation, electromyography is neurogenic damage, and muscle pathology is group atrophy, consistent with denervation.
2. Chronic polymyositis has no genetic history, the disease progresses slowly, the symptoms often have ups and downs, and the degree of muscle weakness is more obvious than muscle atrophy. There is often pain and tenderness, and the blood sedimentation increases. Serum muscle enzymes are normal or slightly elevated, muscle pathology is consistent with changes in myositis, and corticosteroids are better.
3.Myasthenia gravis Myasthenia gravis is aggravated after exercise, relieved after rest, no muscle atrophy and pseudo-muscle hypertrophy. Anticholinergic esterase agents are effective. Electromyography and muscle biopsy help to identify.
4. Myotonic dystrophy This disease is rare and is autosomal dominant. Any age can be ill, first involving the small muscles of the distal hand and foot, no pseudo-hypertrophy, early manifestations of weakness in the distal part of the limb, occasionally facial muscle, eye muscle or throat muscle weakness. Progression is slow, and muscle rigidity and muscle atrophy gradually appear. Muscle atrophy is mainly at the distal end of the extremities, and can be developed to the facial muscles, masseter muscles, diaphragm muscles, and sternocleidomastoid muscles. Therefore, the patient's face is elongated and has an axe face and a gooseneck. Some patients may also have unclear speech and difficulty swallowing. Most patients have cataracts, alopecia, sexual dysfunction, infertility, and mental retardation. In the advanced stage, sputum and myocardial damage may occur, and serum enzymes may be normal or slightly elevated. Electromyography and muscle pathology help to identify.
complication
In the advanced stage, the limbs are contracted and the activity is completely impossible. Often due to a pulmonary infection, hemorrhoids are equal to the death before the age of 20. IQ often has varying degrees of decline. More than half of the patients may have heart damage and abnormal ECG. Early manifestation of cardiac hypertrophy, generally asymptomatic except palpitations.
treatment
Western medicine treatment
No special treatment, various therapies such as allopurinol, Xintongding, energy mixture, inosine, galantamine, biphenyl diester, donkey-hide gelatin, insulin glucose therapy, salivary gland, high-dose VitE and hyperbaric oxygen chamber therapy, etc. None of them have been effective, but recently the application of external counterpulsation therapy has a certain effect according to the cloud. Physiotherapy, physical therapy and other supportive therapies as well as stents, surgery to correct deformities, etc. can be used for adjuvant therapy.
The above content is for reference only, please consult the relevant physician or relevant medical institution if necessary.
prevention
The family of patients should make detailed genealogical analysis and serum CPK determination and genetic analysis, find carriers early, and do a good job in marriage, genetics and eugenics. For women who are diagnosed as carriers, amniocente should be examined at the end of pregnancy, and whether the fetus is abnormal by PCR. This work can not only achieve intrauterine diagnosis, but also timely treatment and prevention of the purpose of the disease.
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