What is Muscular Dystrophy?

Muscular dystrophy is a group of hereditary diseases characterized by progressively increasing muscle weakness and muscular degeneration that governs exercise. Muscular dystrophy includes congenital muscular dystrophy, other types of BECKER-type MD and so on. Some muscular dystrophies can lead to impaired exercise or even paralysis. The clinical manifestations are progressively aggravated skeletal muscle atrophy and weakness in different degrees and distributions. It can also affect the heart muscle.

Basic Information

Also known as: Muscular dystrophy
English name: musculardystrophy

Visiting department: Neurology
Common causes: Genetic abnormality
Common symptoms: Skeletal muscle atrophy and weakness

Causes of muscular dystrophy

The causes of muscular dystrophy include vasculogenic, neurogenic, muscle fiber regeneration disorder, and muscle cell membrane dysfunction. The etiology of this disease is a genetic abnormality, which can be performed in different ways in different types, but the mechanism by which genetic factors eventually cause muscle degeneration is still unknown.

Clinical manifestations of muscular dystrophy

1. Large scale

Recessive recessive inheritance, male disease, female carry. Onset in early childhood, manifested as delayed walking age, walking slowly, easy to fall, difficult to climb after falling. Most are accompanied by hypertrophy of the calf muscles, and the muscle strength of the hypertrophy muscles is relatively strong in the initial stage. The gluteal muscle affected the pelvis to shake up and down; the Achilles tendon contracted and the heel could not touch the ground; From the squatting position, you can only support your body with both hands and gradually stand up your thighs and gradually stand up. After the pelvic girdle muscles are involved, the scapular muscles atrophy and weakness gradually appear, and both arms cannot be held up. The atrophy of the rhomboid muscle, anterior serratus, scapula, superior and inferior ganglia muscles makes the scapula free, and the scapula is wing-shaped, called wing-shaped shoulder. The course of the disease has gradually developed, and some children have relatively stable or improved disease due to their own growth and development. Most children lose their ability to walk at the age of 10, rely on a wheelchair or sit and lie, and have spinal and limb deformities. In the late stages, the limbs contract and they are completely immobile. Deaths often accompany lung infections, bedsores, and other diseases before the age of 20. IQ diminishes to varying degrees. More than half can be associated with heart damage and abnormal ECG. Myocardial hypertrophy is present early, and there are often no symptoms except palpitations.

2.Shoulder-brachial

It has an autosomal dominant inheritance and can be affected by both sexes. Those who are mild can be asymptomatic and found by accident or by a family tree analysis performed by a physician. Occurs in infancy in adolescence or adolescence, and is only discovered years after the onset. Facial muscles are affected earlier, showing tight eyesight, weak breathing, and a bitter smile during sleep. Atrophy and weakness of the cervical muscles, scapular muscles, and brachialis muscles gradually appear. The scapular belt and humerus muscles atrophy, and the shoulder peaks on both sides are obviously bulging. The entire scapular area resembles a "hanger." Forearm muscles are normal. The course of the disease is slow, with trunk and pelvic girdle involvement late. The distal limb muscles rarely atrophy. Even with gastrocnemius hypertrophy. Most cases do not affect life.

3. Limb band type

More complex, non-single disease, partly autosomal recessive. Both sexes can develop. Most of them are onset in adolescents, some are late. The first symptom is weakness and atrophy of the pelvic girdle muscles. The disease progressed slowly, and the scapular belt was gradually involved. Typical symptoms such as difficulty in lifting the arms and winged shoulders appeared. Late-stage patients may also experience muscle contractures and inability to move. No mental retardation. The severity of disease and the rate of progression vary widely and do not affect lifespan.

4. Eye muscle type

Rare. Some patients are autosomal dominant and have different ages. Presented as drooping eyelids and progressive extraocular muscle paralysis. Some patients experience weakness and atrophy of the head, face, throat, neck, or other limb muscles. A small number of patients can be accompanied by damage to the spinal cord, cerebellum, and retina, mental retardation, and abnormally high levels of cerebrospinal fluid protein.

5.Remote type

Depending on the age of onset, it can be divided into several subtypes ranging from early childhood to late middle age, which are autosomal dominant or recessive. It manifests as progressive distal small muscle atrophy, which gradually develops toward the proximal end, progressing slowly and not affecting lifespan.

Muscular dystrophy test

Serum enzyme assay

(1) Increased serum creatine phosphokinase (CPK) 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 delayed, the vitality gradually decreases. It can also be used to check gene carriers, with a positive rate of 60 to 80%.

(2) Serum myoglobin (MB) is also significantly increased in the early stages of the disease and in gene carriers.

(3) Serum pyruvate (PK) sensitivity. Normal men and women under 20 years old have a serum PK value of 119.00, men over 20 years old are 84.30 and women are 77.50. The positive rates of CRK and PK in the above three serum enzymes are higher than Mb. The three comprehensive detection rates were around 70%.

(4) Other enzymes such as aldolase (ADL), lactate dehydrogenase (LDH), aspartate aminotransferase (GOT), alanine aminotransferase (GPT), etc. can also be increased, but they are not specific changes of myopathy, sensitive.

2. Urine test

Urinary creatine excretion increases and creatinine decreases.

3. EMG

All types of muscular dystrophy can be seen in myocardial damage. Including shortening the average duration of exercise units, decreasing the average amplitude of exercise unit potentials, increasing polyphase potentials, interfering phases during heavy contraction, reducing the range of exercise units, and reducing the maximum amplitude of exercise unit potentials. In addition, fibrillation potentials and normal-phase potentials are also visible and many more.

4. Muscle biopsy

It can be seen that the aforementioned pathological changes, when applicable, X-CT or nuclear magnetic resonance examination technology can be used, can find the degree and scope of muscle degeneration, and provide a preferred site for clinical muscle biopsy.

Diagnosis of muscular dystrophy

Diagnosis can be made based on the cause, clinical manifestations, and laboratory tests.

Differential diagnosis of muscular dystrophy

1. Juvenile proximal spinal muscular atrophy

This disease, also known as Kugelberg-welander, is an autosomal dominant genetic disease. The onset of adolescents is mainly atrophy of the proximal muscles of the extremities, with symmetrical distribution, similar to myopathy, but with muscle bundle tremor, electromyogram for neurogenic damage, and muscle pathology for group atrophy, consistent with denervation.

2. Chronic polymyositis

There is no genetic history, the disease progresses slowly, the symptoms often have undulations, and the degree of muscle weakness is more obvious than muscle atrophy. Pain and tenderness are common and erythrocyte sedimentation increases. Serum muscle enzymes were normal or slightly elevated, and muscle pathology was consistent with changes in myositis, and corticosteroid treatment was better.

3. Myasthenia gravis

Myasthenia gravis aggravates after exercise and decreases after rest, without muscle wasting and pseudomuscular hypertrophy. Anticholinesterase treatment is effective. Electromyography and muscle biopsy can help distinguish.

4. Tonic muscle dystrophy

The disease is rare and is autosomal dominant. It can occur at any age. Most of them involve the small muscles of the distal hands and feet first, without pseudohypertrophy. In the early stage, they often show weakness in the distal limbs, and occasionally weakness in the facial, eye, or throat muscles. Progress is slow, with muscle stiffness and atrophy gradually appearing. The muscle atrophy is mainly the distal extremities, which can develop into the facial muscles, masseter muscles, temporal muscles, and sternocleidomastoid muscles. Therefore, the patient's face is thin and long, with an axe face and gooseneck. Some patients may also have slurred speech and difficulty swallowing. Most patients have cataracts, hair loss, sexual dysfunction, infertility, and mental retardation. Paralysis and myocardial damage may occur in the later stages, and serum enzymes are normal or slightly elevated. Electromyography and muscle pathology are helpful for identification.

Muscular dystrophy complications

In the late stages, the limbs contract, and they cannot move at all. Often associated with a lung infection and pressure ulcers equals death before 20 years of age. IQ often diminishes to varying degrees. More than half can be associated with heart damage and abnormal ECG. Myocardial hypertrophy was present early and was generally asymptomatic except for palpitations.

Muscular Dystrophy Treatment

At present, although many scholars have explored the etiology and pathogenesis of muscular dystrophy, it is still unclear. Due to the slow course of the disease and the longevity of some types, the treatment and efficacy of this disease are estimated. It brings great difficulties. Although there are hundreds of drugs in clinical application, there are still no drugs with a positive effect, so that the disease is still developing, causing patients to be sick for life.

1. Adenosine triphosphate (ATP)

Can temporarily relieve symptoms. After intramuscular injection, the excretion of uric acid increases, the metabolism is active, and the symptoms develop rapidly after stopping the drug.

2. Triphosphate (UPT)

Improves symptoms through glucose metabolism. Paralysis develops faster after withdrawal.

3. Vitamin E

Improve the muscle strength of the affected skeletal muscle through the improvement of cell membrane function.

4. Dexamethasone, glucose, insulin, cardine and so on.

5. Chinese medicine treatment

(1) Weakness of the spleen and stomach Expelling Qi and strengthening the spleen, reconciling the spleen and stomach. Recipe with four gentlemen's soup. Medicinal: Codonopsis, Atractylodes, Poria, Zhigancao. Those with spleen deficiency, phlegm and dampness, plus Cangzhu, Pinellia, Chenpi, etc .; those with obvious Qi deficiency can change Codonopsis to Ginseng, and add Astragalus.

(2) Qi and blood deficiency should be treated with qi and blood tonic, nourishing qi and nourishing blood. Fang used Bazhen soup to add and subtract. Medicinal: Codonopsis, Atractylodes, Poria, Angelica, Paeonia lactiflora, Shudi, Achyranthes bidentata, and Licorice. Those with obvious deficiency of qi and blood can add some flavours of flesh such as mutton, beef, Ejiao, and antlers; those with obvious deficiency of qi and astragalus.

(3) Insufficient liver and kidney Treatment should nourish liver and kidney, strengthen muscles and bones. Fang used Tiger Qian Wan addition and subtraction. Medicinal: Turtle board, Achyranthes bidentata, Angelica sinensis, Chinese wolfberry, Codonopsis sibiricum, Baiji, Zhimu, Chenpi. Those who have yin deficiency and heat, add cork, earth bone skin, armour, etc .; Liver winds move, those who are jealous of meat jumps, add gastrodia, hook rattan, stone cassia, etc .; those who have stagnant elephants, chicken blood rat Salvia, Chiba, etc.

(4) Damp-heat Insult Remedy Qingli damp-heat, spleen and medium. The side is flavored with Sanmiao Wan. Medicinal: Cork, Atractylodes, Achyranthes bidentata, Coix seed, Lentils, Poria, Poria, Atractylodes. Those with weak spleen; Codonopsis sibiricum and Huang Jing; those who are wet can add Huoxiang, Peilan, bamboo leaves, etc.

6. Physical therapy

Clinical practice has shown that although proper physical exercise and adequate movement of joints cannot cure the disease, it can at least delay the occurrence of more severe muscle atrophy, muscle weakness and joint contractures. Therefore, encouraging patients to perform as many activities as possible plays a more important role in the treatment of this disease.

7. Acupuncture

Patients with this disease should be treated with acupuncture, especially with body acupuncture. When it is necessary to apply acupuncture treatment, we must pay attention to grasp the stimulation intensity of acupuncture, patients with this disease should not use strong stimulation.

(1) Body Acupuncture You can choose Pishu, Shenshu, Zhongyu, Zusanli, Yaoyangguan, Yuyu, Quchi, Hegu, Ring Jump, Shoulder Well, Fengchi, Yanglingquan, Dazhui, Chengshan, Gongsun Wait for acupoints, select 6-10 acupoints at a time, it should not be too many. Leave the needle for 20 minutes. Acupuncture once every other day.

(2) Ear acupuncture Select liver, spleen, kidney, endocrine, subcortical and other points. Can be acupuncture; can be buried with needle or beans to stimulate.

(3) Scalp Take the first 1/5 and 2/5 of the sports area for scalp and corresponding treatment.