muscular dystrophy
Introduction
Introduction to muscular dystrophy Muscular dystrophy is a group of primary skeletal muscle necrotic diseases characterized by progressive skeletal muscle weakness caused by genetic factors. It is clinically characterized by progressive and aggravated skeletal muscle atrophy and weakness in varying degrees and distribution. . Can also affect the heart muscle. There are many types of muscular dystrophy, some of which are congenital muscular dystrophy that can be observed at birth, while others are observed during puberty, regardless of the exact time of onset, and some muscular dystrophy. It can cause exercise to be damaged or even paralyzed. basic knowledge The proportion of illness: 0.002% Susceptible people: infants and young children Mode of infection: non-infectious Complications: Acne
Cause
Causes of muscular dystrophy
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 still unclear.
Prevention
Muscular dystrophy prevention
The family of patients should be analyzed by detailed genealogy and serum CPK and genetic analysis. Carriers should be found very early, and marriage, genetics and eugenics should be well educated. For women who are diagnosed as carriers, amniocente should be examined in the third trimester. The PCR method finds whether the fetus is abnormal. This work can not only achieve intrauterine diagnosis, but also timely treat and prevent the purpose of the disease.
Complication
Muscular dystrophy complications Complications
Late, limbs contracture, activity is completely impossible, often accompanied by pulmonary infection, hemorrhoids are equal to 20 years old before the death, IQ often have varying degrees of decline, more than half can be associated with heart damage, abnormal ECG, early manifestation of cardiac hypertrophy, in addition to palpitations Asymptomatic.
Symptom
Symptoms of muscular dystrophy Common symptoms can not be tooth and lip muscles pseudo-hypertrophic muscle hypertrophy nitrogen negative balance simple upper body weight loss type of two arms can not be lifted into a sloping shoulder paralysis serious fake large scale ... benign fake fat large muscle. .. muscle atrophy
According to typical genetic forms and major clinical manifestations, muscular dystrophy can be classified into the following types:
(1) Large scale fake fertilizer:
X-linked recessive inheritance is the most common type, and can be divided into Duchenne type and Becker according to clinical manifestations.
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 turn over and prone, then climb your knees with both hands, and gradually support the standing up (Gower sign), also visible 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, young onset, first facial muscle weakness, often asymmetrical, can not show teeth, lips, eyes closed and frowning, orbicular muscles can have pseudohypertrophy, resulting in thick lips and lips, some The shoulders and the ankle muscles are first affected, so that the two arms can not be lifted up to the shoulders, the upper arm muscles are atrophied, but the forearms and hand muscles are not invaded, and the course of the disease progresses very slowly, often frustrating or relieving.
(3) Limb-type 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 climb the floor, gait swing, often fall, and some only involve the quadriceps, the disease progresses very slowly.
(4) Other types:
Quadriceps type, distal type, progressive extraocular muscle paralysis type, eye muscle-pharyngeal muscle type, etc., are rare.
Examine
Muscular dystrophy
First, serum enzyme determination:
1. Serum creatine phosphokinase (CPK): Increased CPK is an important and sensitive indicator for the diagnosis of this disease. It can be increased after birth or before clinical symptoms appear. When the course of disease is gradually reduced, it can also be used to check gene carrying. The positive rate is 60-80%.
2, serum myoglobin (MB): in the early stage of the disease and gene carriers are also significantly increased.
3. Serum pyruvate (PK): It is also very sensitive. The serum PK value of normal male and female under 20 years old is 119.00, 84.30 for males over 20 years old, and 77.50 for females. The positive rate of CRK and PK in the above three serum enzymes is higher than that. Mb, the three comprehensive detection rate is about 70%.
4, other enzymes: such as aldolase (ADL), lactate dehydrogenase (LDH), aspartate aminotransferase (GOT), alanine aminotransferase (GPT), etc., can also be increased, but not specific changes in myopathy, nor sensitive.
Second, urine test:
Increased creatinine excretion and decreased creatinine.
Third, EMG.
Fourth, muscle biopsy: visible pathological changes as described above, if conditions can be applied X-CT or magnetic resonance imaging techniques, can find the extent and extent of muscle degeneration, can provide a clinically preferred site for muscle biopsy.
Diagnosis
Diagnosis and diagnosis of muscular dystrophy
Juvenile proximal spinal muscular atrophy
The disease is also known as (Kugelberg-welander, progressive muscular atrophy), is an autosomal dominant genetic disease, adolescent onset, mainly manifested as proximal muscle atrophy of the extremities, symmetric distribution, similar to myopathy, but with fasciculation The electromyogram is neurogenic damage, and the muscle pathology is group atrophy, which is consistent with denervation.
2. Chronic polymyositis
No history of genetic disease, the disease progresses slowly, the symptoms often have ups and downs, the degree of muscle weakness is more obvious than muscle atrophy, often pain and tenderness, erythrocyte sedimentation rate increases, serum muscle enzymes are normal or slightly elevated, and muscle pathology is consistent with changes in myositis. Corticosteroids have a better therapeutic effect.
3. Myasthenia gravis
Myasthenia gravis is aggravated after exercise, relieved after rest, no muscle atrophy and pseudo-muscle hypertrophy, anti-cholinesterase treatment is effective, electromyography and muscle biopsy are helpful for identification.
4. Myotonic dystrophy
The disease is rare, autosomal dominant, can occur at any age, first involving the small muscles of the distal hand and foot, no pseudo-hypertrophy, early manifestations of weakness of the distal part of the limb, occasionally facial muscle, The eye muscles or throat muscles are weak, the progress is slow, and the muscle rigidity and muscle atrophy gradually appear. The muscle atrophy is mainly at the distal end of the extremities, and can develop to the facial muscles, masseter muscles, diaphragm muscles and sternocleidomastoid muscles, so the patient's face is elongated. Axe face, gooseneck, some patients may also have unclear speech, difficulty swallowing, most patients have cataract, hair loss, sexual dysfunction, infertility, mental retardation, etc., late can occur sputum and myocardial damage, serum enzymes Normal or mild elevation, electromyography and muscle pathology help to identify.
