Progressive muscula dystrophy (PMD) is a genetic disorder of the primary transverse muscle. The main clinical manifestation is a progressive muscle weakness and atrophy with bilateral symmetry starting from the proximal extremities, and in some cases, cardiac muscle involvement. Progressive myotonic dystrophy has been reported to account for approximately 29.4% of neurological genetic disorders and is one of the most common of the neuromuscular diseases.
Contents
Western definition
Clinical manifestations
Pseudomegaly
Disease Symptoms
Limb-girdle type
Face-shoulder-humeral type
Distal type
Ocular muscle type
Disease Pathology
Diagnostic points
Predisposed people
Identification and treatment
Congenital deficiency Liver and kidney deficiency
Acquired deficiency Spleen Qi weakness
Phlegm and stasis intermingling, retention of muscle
Treatment
Specialized prescriptions for specific diseases
Single herbal medicine
Research on evidence-based treatment
Research on etiology and pathogenesis
General knowledge of prevention
Serum enzyme assay
Urine test
Electromyography
Myocardial biopsy
Electrocardiogram
CT and MRI examinations
Overview
Western Definition
Clinical Presentation
Pseudohypertrophy
Disease Symptoms
Limb Girdle Type
Face-shoulder-humeral type
Distal type
Ocular muscle type
Disease Pathology
Diagnostic points
Predisposed people
Identification and treatment
Congenital deficiency Liver and kidney deficiency
Acquired deficiency Spleen Qi weakness
Phlegm and stasis intermingling, retention of muscle
Treatment
Specialized prescriptions for specific diseases
Single herbal medicine
Research on evidence-based treatment
Research on etiology and pathogenesis
General knowledge of prevention
Serum enzyme assay
Urine test
Electromyography
Myocardial biopsy
Electrocardiogram
CT and MRI examinations
Expand
Overview
Progressive myotonic dystrophy is a condition in which the muscles gradually atrophy as we age, causing a gradual loss of mobility.
Progressive myotonic dystrophy
Progressive muscular dystrophy is a disease in which the ability to take care of oneself is gradually lost as one ages. Patients eventually have to wait for their death due to heart muscle failure, which is known as the “ice man” in the international medical community. This disease has been included in the top ten medical topics for research by the International Seven Three Society (ISTS).
Progressive myotonic dystrophy is a group of progressive hereditary skeletal muscle degenerative diseases. The main clinical feature is progressive symmetric weakness and atrophy of the selectively affected myelinated muscles, with eventual loss of motor function. The disease is inherited monogenetically and has an age of onset of about 5 to 6 years, with an incidence of 13 to 33/105 of male infants born. Recent studies suggest that the underlying cause of the disease is an abnormality of the muscle cell membrane.
Western medical definition
Progressive myotonic dystrophy is a group of hereditary, progressive muscle diseases of unknown etiology. It is characterized by progressive muscle atrophy and weakness.
Edit this section Clinical manifestations
Pseudohypertrophy
(Duchenne type)
First described by Duchenne (1868), it is the most common type of myopathy in children. It is recessive in nature and almost always affects boys, accounting for l/3,000-1/4,000 (Europe and the United States) and l/22,000 (Japan) of live births. _Females are only heterozygous chromosome carriers and do not develop the disease. The first symptoms are pelvic girdle muscle weakness, low muscle tone, slow walking and easy falling. The disease progresses more rapidly
Progressive myotonic dystrophy
The disease progresses rapidly and may gradually involve the scapular girdle, distal extremity muscles and facial muscles. If the back extensors are weak, the lumbar vertebrae are excessively convex when standing; if the gluteus medius is weak, the pelvis swings to both sides when walking, showing a typical “duck stance”; when the child stands up in the supine position, he/she first turns to the prone position and then supports the bed and lower limbs with both hands before standing up slowly, which is called Gowers’ sign; due to the weakness of the scapular girdle muscle and the serratus anterior muscle, it can show Due to the weakness of the scapular girdle muscle and anterior serratus muscle, “free shoulder” and “pterygoid scapula” can be seen, which are the characteristic manifestations of this type. About 90% of the children have pseudohypertrophy of muscles, with the gastrocnemius being the most obvious, deltoid, quadriceps, gluteus, infraspinatus, triceps and lingual muscles may also be involved. Most of the children also have myocardial damage, and about 30% of the children have different degrees of intellectual disability, and the disease is progressively aggravated. In addition, there is a type of clinical manifestation similar to this type, called benign pseudohypertrophy (Becker type), first reported by Becker (1957), often between the ages of 5 and 25 years of slow onset, the course of the disease is long, mostly 15 to 20 years after the onset of the disease before they can not walk, accounting for 3-6/100,000 boys born, myocardial involvement is rare, intelligence is mostly normal.
Disease symptoms
Signs: The disease can be broadly classified into the following types according to the main clinical features, age of onset, distribution of muscle weakness and the length of the disease. I. Symptoms
1, pseudohypertrophy Duc he nne type, this type is only seen in preschool boys, attribute interlocking recessive genetic disease. Females are only carriers of abnormal chromosomes and do not develop the disease. The prominent symptoms are walking with an erect chest and protruding abdomen, walking with a swaying pelvis and lower limbs, and a duck walk gait; when rising from a prone position, one must first turn over to a prone position, bend the knees, support the trunk with the forearms, and gradually stand upright, making it more difficult to stand and go upstairs; one cannot run and easily trips and falls, and most children have pseudohypertrophy of the muscles in about 90% of cases. The disease can involve the myocardium and cardiac conduction system, this type of patient’s disease progresses rapidly, most patients die before the age of 25-30 years from respiratory tract infection, heart failure or chronic wasting.
In addition, there is a group of patients often during the age of 5 to 25 years, the clinical manifestations and pseudohypertrophy is similar, but the disease progresses more slowly, most patients can not walk until 15 to 20 years after the onset of the disease, less involvement of the heart, the prognosis is better. Clinically, it is called benign pseudohypertrophy Becker type,.
2, limb band type Patients with this type mostly start between 10 and 30 years of age, with no significant gender differences and autosomal recessive inheritance. There are also disseminated. The first symptom is often difficulty going upstairs or inability to lift the arm over the shoulder. The lesions mainly involve the pelvic girdle and shoulder girdle muscles. The initial limb muscle weakness and atrophy are often asymmetric, and after a considerable period of time there is no significant difference between the two sides.
3.Facial-shoulder-humeral type is the most common myotonic dystrophy in adults, mostly starting in adolescence. It is autosomal dominant, and the gender difference is not obvious. It mainly affects the muscles of the face, scapular band and upper arm, and manifests as indifference, weakness of mouth and eye closure, protruding thickened lips and other so-called “myopathic face”, moreover, it is difficult to lift both arms.
4, other types Other types include distal type, oculomotor type, etc., but they are less common clinically. The distal type is characterized by Muscle atrophy Progresses slowly from the distal to the proximal end of the limb. The oculomotor type is characterized by progressive bilateral eyelid ptosis and extraocular muscle paralysis, and the upper facial muscles may also be involved. It should be distinguished from other diseases. The common feature of this group of patients is muscle atrophy, and the difference between the various types is that the sites and muscle groups involved are different. Pseudohypertrophy mainly affects the pelvic girdle and scapular girdle muscles, with local muscle atrophy, the two scapulae are winged in the back, the so-called “winged scapulae”, duck walk gait when walking, Gowers phenomenon when standing from supine position, at the same time, accompanied by pseudohypertrophy of the gastrocnemius muscle, manifesting as muscle hypertrophy in appearance, firm to the touch In the limb-girdle type, the proximal muscles of the limbs are mainly involved, and the patient may have a pterygiform shoulder; in the face-shoulder-humeral type, the typical myopathic face, drooping shoulder, pterygiform shoulder, etc. may appear. Myotonic dystrophy is not associated with sensory disturbances, tendon reflexes are often reduced or absent, and there are no pathological signs.
Limb-girdle type
(Erb type)
It is an autosomal recessive form that can develop at all ages, but is more common between the ages of 10 and 20 years and can affect both men and women. Clinically, muscle weakness and atrophy appear first in the muscles of the pelvic girdle and scapular girdle, and are often asymmetrical at first. Most patients who start with lower extremity weakness have upper extremity involvement within 10 years, and tendon reflexes are weakened or absent. Cardiac muscle involvement is rare.
Face-shoulder-humeral type
(Landotlry-Déjerine type, or FSHD)
Originally recorded in 1885 by French neurologists L. Landouzy and J. Déjerine, therefore
face
The disease may also be referred to as Landotlry-Déjerine type of progressive myotonic dystrophy. Since the site of the muscle lesion is called fazio-skapulo-humeral in Latin, the English name of the disorder is Facioscapulohumeral muscular dystrophy, abbreviated as FSHD.
The disease is autosomal dominant and can develop in both men and women, with a prevalence of 0.4-0.5/100,000, mostly in adults. The lesion mainly affects the facial muscles (fazio), the scapula (skapulo) and the upper arm muscles (humeral), and may also involve the pectoralis major muscle, giving a special “bitter smile”, a drooping shoulder, a “winged shoulder” and a “free shoulder”. “The lower extremities are less affected, and pseudohypertrophy of the gastrocnemius and deltoid muscles is occasionally seen. Those affecting the heart are rare. The effect on life expectancy is not significant.
Distal type
(Gower type)
It was first reported by Gower (1902) and is rare. It is autosomal dominant. It usually develops between 40 and 60 years of age, with progressive weakness and atrophy of the anterior tibialis, gastrocnemius and small hand muscles. The disease progresses slowly and gradually involves the proximal limbs. The tendon reflexes are normal in the early stages, but in the late stages, they disappear. In general, the disease does not cause severe disability and does not affect the life span.
Oculomotor type
(Kiloh-Nevin type)
1. Simple ophthalmic muscle type, also known as chronic progressive nuclear ophthalmic muscle paralysis or chronic progressive extraocular muscle paralysis, occurs in young adults.
Ophthalmic muscle
The disease starts in young adults and mainly affects the eye muscles, manifesting as weakness and atrophy of the levator muscle and other extraocular muscles, and progresses slowly.
2. Oculopharyngeal muscle type was first described by Voctor (1902) and is rarely seen. The age of onset varies. However, it is more common at the age of 30 to 40. It mainly affects the oculopharyngeal muscle and the linguopharyngeal muscle. The disease is characterized by slowly progressive paralysis of the extraocular muscles and swallowing muscles, and swallowing and dysarthria and pharyngeal symptoms often appear several years after the paralysis of the extraocular muscles. In a few cases, dysphagia precedes ocular symptoms for several months to years. Loss of tendon reflexes. Extraocular muscle paralysis and loss of tendon reflexes are the main features of this disease.
3. Oculocerebral somatic neuromyopathy is extremely rare. The disease develops before the age of 15 and is characterized by chronic progressive extraocular muscle paralysis, slow growth, mental retardation, retinitis pigmentosa, deafness, ataxia, myocardial conduction block and cardiomyopathy. Cerebrospinal fluid examination shows increased protein, and EEG and serum PK are mostly normal.
Disease pathology
Pathology:The pathological changes of myotonic dystrophy are mainly manifested as follows: under the naked eye, the affected skeletal muscle is paler than normal, and is soft and brittle; under the light microscope, focal necrosis is visible at an early stage, and the muscle fibers are uneven in thickness, along with scattered moth-like changes. The transverse lines in the muscle fibers disappeared, vacuoles were formed, and myocytes were arranged in chains and moved to the center. In the late stage, the muscle fibers were generally atrophied and filled with a large number of adipocytes and connective tissue, and the pseudohypertrophy was caused by the accumulation of large amounts of adipose tissue within the muscle bundles; electron microscopy revealed serrated changes in the myocyte membrane.
Diagnostic points
1. There is often a family history.
x chromosome
2. The diseased muscle first involves the proximal muscle groups of the limbs, with pseudohypertrophy symmetrically on both sides, weakness of the lower limbs, swaying gait, positive Gower’s sign; difficulty in raising the arms of the upper limbs.
Skin perception was normal, tendon reflexes and superficial reflexes were not hyperactive, and there was no muscle tremor.
4.Significant increase in blood CPK is the most sensitive indicator, which can help early diagnosis; ALT, AST and LDH may be increased.
5.Electromyography is consistent with muscle thickening damage; muscle biopsy shows fibrous degeneration; dystrophin content measurement and PCR technology can help the diagnosis.
Editorial susceptibility
It is more common in children and adolescents, and is more common in males than females.
Editorial identification and treatment
Congenital deficiency, liver and kidney deficiency
This disease is due to heredity and has been confirmed by modern medicine. In Chinese medicine, the influence of genetic factors on human beings has been recognized since the Nei Jing. The strength of congenital endowment directly affects the birth, aging, illness and death of a person. Therefore, experts believe that this disease is caused by the deficiency of kidney energy of the parents, resulting in the child receiving insufficient essence from the parents as the main cause of the disease. The waist is the house of the kidneys, the congenital deficiency of kidney essence cannot nourish the waist house, so the child sees weakness in the waist and back; the deficiency of kidney essence can involve the deficiency of liver yin, liver and kidney yin deficiency, can not moisten the tendons and veins and weakness of the limbs, which is also “liver disease is not used in the limbs”, as stated in the Nei Jing. The patient can be seen to be swaying from side to side like a duck walk.
Weakness of the Spleen
The spleen is the origin of the postnatal period, the source of Qi and blood biochemistry, and the master of muscles and limbs. In its normal physiological state, the spleen is able to take in nutritious and delicate substances and change them into qi and blood through the stomach’s ability to receive and decompose water and grain and the spleen’s ability to transport and transform them. If the spleen is healthy, the blood and qi will have a source of biochemistry, and the muscles and tendons will be nourished by it, and the muscles will be healthy and full, and the body will be healthy and disease-free. “Progressive myotonic dystrophy” in children is more often because the children’s internal organs are delicate, the form of gas is not full, the spleen is often insufficient, coupled with the congenital deficiency, the spleen is weak, the spleen is not healthy, can not biochemical qi and blood, the qi and blood deficiency can not moisten the muscles and limbs, muscle atrophy weakness.
Phlegm and stagnant blood stagnate in the muscles
The spleen is responsible for transporting water and dampness. If the spleen is weak, it cannot transport water and dampness and produce qi and blood, and the surface is filled with phlegm and turbidity. Qi is the handsome of blood and blood is the mother of qi. Due to the congenital deficiency, spleen and kidney deficiency, long time, the gas is not strong enough to promote blood flow gradually to the evidence of blood stasis, phlegm and blood stasis each other, stay in the muscle, blocking the meridians, day see local muscle pseudo hypertrophy, muscle thickening and hardening.
In conclusion, the main cause of progressive myotonic dystrophy is due to the deficiency of endowment of parents’ essence, resulting in the deficiency of liver and kidney and the weakness of spleen, which leads to the interconnection of phlegm and blood stasis, which stays in the muscles and does not go, forming a complex pathological mechanism of deficiency, which can lead to reality and reality can cut down deficiency, thus forming an intricate pathological state. Due to kidney deficiency, liver wood is not nourished, coupled with the weakness of the spleen and stomach, earth deficiency is not liver wood glory, so it is difficult to control the horizontal rebellion, so it becomes liver wind, walking wobbly like a duck walk,; liver wood horizontal rebellion, up to punish the lungs, in order to multiply the spleen, spleen qi deficiency, then the limbs are thin and weak, tired and lazy; down to cut the kidneys, resulting in the lack of qi, blood and yin more, resulting in the patient’s lower limbs weakness is obvious, can not stand for a long time, lying down inconvenience, forming a vicious circle. If the patient does not recover from the disease for a long time, the qi and blood will gradually decay and the five organs will die, and finally the decay of yin and yang will lead to death.
Treatment
Galanthamine; Allopurinol; Myosheng injection; Insulin; Glucose; Adenosine triphosphate; Uridine triphosphate; Vitamin E; Si Jun Zi Tang; Ba Zhen Tang; Hu Qian Wan; San Miao Wan
Specialized prescriptions for specific diseases
1.Rongmyo Tablet is used for myotonic dystrophy with Qi and blood deficiency and stagnation.
Astragalus membranaceus 40g, Radix Angelicae Sinensis 15g, Atractylodes Macrocephala 12g, Semen Cuscutae 20g, Radix et Rhizoma Gastrodiae 12g, Scorpion 6g, made into tablets according to modern production process. Each tablet is 0.3g, equivalent to 3g of raw herbs. 6 tablets for 8-9 years old, 3 times a day; for those under 8 years old, reduce 1 to 2 tablets each time; for those 10-15 years old, add 2 tablets each time; for those over 16 years old, add 4 tablets each time. A total of 68 cases were treated, with 39 apparently effective cases, 26 effective cases and 3 ineffective cases. (Li Zengfu, Li Chengwen, Li Guixin, Clinical observation on the treatment of progressive myotonic dystrophy with Rongmyo tablets, Henan Traditional Chinese Medicine, 1997(2): 94)
2.Fu-muscle Tang combined with Fu-muscle Ning powder is suitable for limb band myotonic dystrophy with spleen deficiency and blood stasis.
Fuxinanxing Tang, 10g of Bile Nanxing, 10g of Madonnas, 10g of Fructus Fructus, 10g of White Sclerotium, 10g of Jiao Sanxian, 10g of Chen Pi, 10g of Jiang Hanxia, l0g of Licorice, 15g of Acorus calamus, 15g of Radix Rehmanniae, 15g of Momordicae, 15g of Radix Codonopsis, 15g of Crocus, 15g of Fructus Lycii, 15g of Eucommiae, 15g of Atractylodes macrocephala, 20g of Astragalus, 20g of Mother of Pearl (decoction first), 20g of Oyster (decoction first). decoction first).
Fuxinin powder, Ming Tianma 60g, whole scorpion 60g, centipede 30 (remove head and foot), Dilong 30g, Astragalus 30g, Eucommia charcoal 30g, Oxalis 20g, finely ground together. Take 2 or 5g per dose, 2 times orally in the morning and evening.
The treatment of thousands of cases, every get good results (Chen Lihua, Shang Ershou clinical experience in the treatment of progressive myotonic dystrophy, Beijing Chinese medicine, 3, horse Qian Fu impotence spirit for spleen and kidney deficiency, Qi and blood deficiency caused by all types of myotonic dystrophy.
Sang Sang Sang, 30g, Chuan Niu Knee 10g, Du Zhong 10g, Shu Di Huang 10g, Cistanches 10g, Astragalus 20g, Yam 10g, Angelica 10g, Salvia 10g, Di Long 10g, Atractylodes 6g, Chuan Xiong 6g, Epiphyllum 6g, Roasted Licorice 6g, Strychnine powder 0,3g (o,15g for under 3 years old, 0,6g for adults). The above medicine except strychnine, water decoction to get juice and then punch strychnine powder, 1 dose per day in 2-3 times in half an hour to 1 hour after meals, 20 days for a course of treatment. After taking 1 course of treatment, stop taking the medicine for 5-10 days and then take it again. In 30 cases, there were 12 cases with significant effect, 12 cases with effective effect and 6 cases with ineffective effect. (Sha Haibun, Clinical summary of 30 cases of progressive myotonic dystrophy, Beijing Journal of Traditional Chinese Medicine, 1986