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Muscular dystrophy is a group of diseases with progressive muscle weakness and muscle wasting due to genetic mutations that are passed down from blood to offspring. Genus.
Among them, there is a common type of muscular dystrophy - pseudohypertrophy, which can be divided into Duchenne type (Duchenne muscular dystrophy) and Becker type (Becker muscular dystrophy) according to clinical manifestations, which mainly affects the muscles associated with exercise and the heart: skeletal muscle and cardiac muscle, and the disease occurs almost exclusively in men.
The identification of pathogenic genes for muscular dystrophy can accurately and quickly identify the genetic causes of the patient's disease, find and design the best program according to the pathogenic genes, guide genetic correction, and avoid the recurrence of offspring or second children.
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1. Rare types: What are the types of muscular dystrophy? Such as distal type, quadriceps type, oculoplaten-pharyngeal muscle type, and progressive extraocular muscle paralysis type.
2. Facial and shoulder, humeral muscular dystrophy: the course of the disease progresses slowly, often remission or retardation, onset in adolescence, both men and women can develop the disease, what are the types of muscular dystrophy? The first to be affected is the shoulder and humeral muscles, so that the shoulders and arms cannot be lifted, and the upper arm muscles are atrophied, but the forearm and hand muscles are not violated.
3. Pseudohypertrophy: recessive inheritance, X-linked, the most common type, what are the types of muscular dystrophy? It can be divided into the following two types:
One is benign pseudohypertrophic muscular dystrophy, which begins after the age of 10, and the first symptom is weak muscle strength in the femoral and pelvic girdles, with a long course of disease, slow progression, and a good prognosis.
4. Limb-girdle muscular dystrophy: What are the types of muscular dystrophy? It can be seen in both men and women, the course of the disease is very slow, children or young adults have the onset of the disease, the psoas major muscle and pelvic girdle muscles are affected first, unable to climb the stairs, difficult to walk, often fall, swaying gait, and the quadriceps muscles are easily affected.
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1.False hypertrophy.
Pseudohypertrophic muscular dystrophy is manifested in early childhood by delayed walking age, easy falling, and difficulty getting up after falling. Wait until the advanced stage of the patient's limbs contracture and become completely unable to move. It is also easy to develop lung infections or pressure sores, which can be life-threatening in severe cases.
The patient's IQ also decreases to varying degrees, and is accompanied by heart damage or abnormal electrocardiogram.
2.Shoulder-humeral type.
Such patients are difficult to detect when their disease is mild, and most often develop it in early childhood or adolescence. Generally speaking, patients with facial muscles will have symptoms such as not closing their eyes tightly during sleep, smiling bitterly, and gradually developing symptoms such as neck muscle atrophy and weakness.
3.Limb girdle type.
Limb girdle muscular dystrophy mostly begins in adolescence, and weakness and atrophy of pelvic girdle muscles are common symptoms in the early stage, and muscle contractures and inability to move freely will occur in the later stages. The lives of such patients are generally not jeopardized, but they still need to be prompted**.
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Muscular dystrophy can be divided into the following types according to the genetic mode, age of onset, distribution of atrophic muscles, the rate of progression of the disease course and prognosis, pseudohypertrophic muscular dystrophy, faciculoscapulohumeral muscular dystrophy, limb-girdle muscular dystrophy, congenital muscular dystrophy, oculopharyngeal muscular dystrophy, oculomuscular dystrophy and distal muscular dystrophy. Among them, pseudohypertrophic muscular dystrophy is further divided into DMD and BMD muscular dystrophy. The various types of muscular dystrophy have different genetic locations, mutation types, and inheritance patterns, and the pathogenic mechanisms are also different.
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The clinical features are a slow onset of progressive weakness and atrophy of the proximal muscles of the extremities, mostly starting proximally, symmetrically, with myopathic facies, winged shoulders and duck gait, often coexisting with pseudohypertrophy.
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Muscular dystrophy can be classified into the following types, based on typical genetic forms and predominant clinical manifestations:[3].
1) Pseudohypertrophy: It is X-linked recessive inheritance, which is the most common type, and can be divided into Duchenne type and Becker according to clinical manifestations.
1. Duchenne malnutrition (DMD): also known as severe pseudohypertrophic malnutrition, almost only seen in boys, if the mother is a gene carrier, 50% of male offspring are sick, often onset at the age of 2-8 years, the initial feeling of walking is clumsy, easy to fall, can not run and climb the stairs, standing myelosis lordosis, abdomen protrusion, feet aside, walking slowly swaying, a special "duck step" gait, when walking from the back is very difficult, must first turn over and lie on the stomach, and then climb the knees with both hands, Gradually stand up with upward support (Gower sign). It can also be seen in the proximal limb muscles, quadriceps, and brachial muscles.
2. Becker type (BMD): also known as benign pseudohypertrophic muscular dystrophy, often onset after the age of 10, the first symptom is weak pelvic girdle and femoral muscles, slow progression, long course of disease, 25 years or more after the appearance of symptoms before they can not walk, most of them are still not paralyzed at the age of 30-40, and the prognosis is better.
2) Facicoscapular humeral muscular dystrophy: both men and women, onset in adolescence, first facial muscle weakness, often asymmetrical, unable to show teeth, protruding lips, closed eyes and frowning, orbicularis oculi muscle can have pseudohypertrophy, resulting in lip hypertrophy and protruding lips, some shoulder and humeral muscles are first affected, so that the arms can not be raised to form a hanging shoulder, the upper arm muscles are atrophied, but the forearm and hand muscles are not violated. The course of the disease progresses very slowly, often with abruptness or remission.
3) Limb girdle muscular dystrophy: seen in both sexes, it begins in children or young adults, first affects the pelvic girdle muscles and psoas major muscles, difficulty walking, inability to climb stairs, swaying gait, often falls, and some only affect the quadriceps muscle. The course of the disease progresses very slowly.
4) Other types: quadriceps type, distal type, progressive extraocular muscle paralysis type, ophthalmo-pharyngeal muscle type, etc., which are very rare.
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It is divided into DMD and BMD muscular dystrophy.
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There are many kinds, but is the patient you?
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The disease is based on the spleen and kidney, the main tendon of the liver, the main body movement, and the liver and kidney are homologous, so it is the main treatment principle to strengthen the spleen and invigorate qi, nourish the liver and kidney, build muscles and become impotent, and strengthen the muscles and meridians.
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Muscular dystrophy includes many types, such as congenital muscular dystrophy and other Becker MDs.
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1. Pseudohypertrophic muscular dystrophy: Pseudohypertrophic muscular dystrophy is also a relatively common muscular dystrophy, and this type is mainly caused by genetic factors, which is generally found in infancy and early childhood.
2. Limb girdle muscular dystrophy: The type of trousers is more complicated, and symptoms such as muscle weakness and atrophy of the pelvis will appear in adolescence, but this progress is relatively slow, in addition to not being able to walk, muscle atrophy and disorderly phenomenon, there will be no intellectual disability and no death.
3. Facial, shoulder, humeral muscular dystrophy: This type of disease is mainly closely related to the facial muscles, mainly due to the involvement of the facial muscles.
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In the early stage, it is difficult to walk up stairs, unable to walk or run, unable to jump on one foot, and some patients only have small muscle atrophy and tibialis anterior muscle atrophy in both feet in the late stage.
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1. Pseudohypertrophic muscular dystrophy bridge: Pseudohypertrophy is also a relatively common muscular dystrophy, and this type is mainly caused by genetic wandering filial piety factors, which will generally be found in infants and young children.
2. Limb girdle muscular dystrophy: this type is more complicated, and symptoms such as weakness and atrophy of the pelvic girdle muscles will appear in adolescence, but this progress is relatively slow, in addition to the phenomenon of inability to walk and muscle atrophy, there will be no intellectual disability and no death.
3. One face and one shoulder.
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Disease analysis: 1. Classification according to nutrient types:
1) Energy malnutrition: mainly due to energy deficiency, the main reason is insufficient energy or absorption and utilization disorders, such as long-term illness and congenital malformations affecting eating.
2) Protein malnutrition: protein deficiency is the mainstay, due to insufficient protein intake, absorption and utilization disorders, resulting in long-term negative nitrogen balance.
The main causes are starvation, chronic diarrhea, chronic liver damage or severe burns, loss of large amounts of protein due to fluid accumulation in the chest and abdomen, or excessive protein breakdown in the body due to chronic diseases such as tuberculosis.
2. Classified by **:
1) Primary malnutrition: Primary malnutrition is mainly caused by insufficient nutrient intake.
2) Secondary malnutrition: Secondary malnutrition is caused by impaired absorption and utilization of nutrients or excessive consumption of nutrients due to acute or chronic diseases, such as long-term gastrointestinal dysfunction, tumors, etc.
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Muscular dystrophy is generally divided into the following types.
1. Pseudohypertrophic muscular dystrophy: divided into severe Duchenne type and benign Baker type, the incidence of the former is roughly 1 in 3500 male babies born (female babies generally do not get sick), normal after birth, start walking late, walk slowly and easily fall.
Symptoms appear around the age of 3, swaying from side to side like a duck step when walking, the waist is convex, when standing up, you must first turn over and lie on your stomach, support the ground with the palms of both hands into a kneeling position, and then support your knees and thighs with both hands to stand upright.
When squatting and standing up, you need to support your knees with both hands to stand up. After the age of 7, the symptoms become worse year by year, and the ability to walk is lost before the age of 14.
Baker's muscular dystrophy is less common than Duchenne's muscular dystrophy, and muscle weakness occurs after the age of 5 years, the disease progresses slowly, and there may be varying degrees of movement difficulties in adulthood.
2. Facicoscapulohumeral muscular dystrophy: manifested as facial expression muscles, shoulder muscles and upper arm humerus.
2. Triceps muscles are atrophied and weak, and there may be weakness in closing the eyes, difficulty in whistling, puffing out the cheeks, and lifting the shoulders.
3. Limb girdle muscular dystrophy: manifested as atrophy and weakness of pelvic girdle muscles, duck walking, and difficulty for patients to go upstairs and squat down to stand up.
It can also manifest as atrophy and weakness of the shoulder girdle muscles of the upper extremities"Pterygoid scapula", trapezius muscle, pectoralis major muscle atrophy, difficulty lifting the upper limbs.
4. Distal muscular dystrophy: mainly manifested as the distal end of the limbs, difficulty in extending and flexing the hand muscles and dorsal foot of the foot, and unable to walk on tiptoe and heel.
5. Myotonic dystrophy: manifested as atrophy of facial muscles, masticatory muscles, shoulder girdle muscles, and limb muscles.
It is difficult to release after exerting force or clenching a fist, and the disease can be aggravated in cold weather.
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Muscular dystrophy can be divided into pseudohypertrophic muscular dystrophy, limb-girdle muscular dystrophy, faciculoscapulohumeral muscular dystrophy, oculopharyngeal muscular dystrophy, oculomyogenic muscular dystrophy, emery-dreifuss muscular dystrophy, distal muscular dystrophy, and congenital muscular dystrophy. The most common of the types of progressive muscular dystrophy is pseudohypertrophic muscular dystrophy. The disease begins at the age of 3-5 years, with symptoms such as muscle weakness, muscle atrophy, and muscle pseudohypertrophy, most of which will be accompanied by heart damage, some children have intellectual impairment, and they cannot walk at the age of 12, and most of them die at the age of 20-30.
According to the genetic pattern, age of onset, distribution of atrophic muscles, the rate of progression of the disease and prognosis, muscular dystrophy can be divided into the following types: pseudohypertrophic muscular dystrophy (including DMD and BMD malnutrition), facicoscapulohumeral muscular dystrophy, limb-girdle muscular dystrophy, congenital muscular dystrophy, oculopharyngeal muscular dystrophy, ocular muscular dystrophy and distal muscular dystrophy. The various types of muscular dystrophy have different genetic locations, mutation types, and inheritance patterns, as well as different pathogenic mechanisms.
The symptoms of muscular dystrophy are as follows:
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