Definition of Muscular Dystrophy
The muscular dystrophies are a group of inherited disorders characterised by progressive muscle wasting and degeneration of the skeletal or voluntary muscles. This is due to the muscles lacking a key protein that is needed to function properly. As the muscle tissue weakens and degenerates, it is replaced with fat tissue, making the muscles appear larger than normal. About 33 percent of muscle mass must be lost for function to be impaired. The muscles of the heart and some other involuntary muscles are also affected in some forms of muscular dystrophy, and a few forms involve other organs as well.
The progressive and symmetrical languor and wasting of affected muscular group characterize the main manifestation and some patients suffer the muscular group pseudohypertrophy which may leads to the full ability loss of movement. Till now, there is no effective therapeutic methods in Western medicine.
What causes it?
The muscular dystrophies are caused by genetic defects, which means they are inherited at birth. While the affected genes have been identified for some forms of muscular dystrophy, such as DMD, BMD, CMD, and most forms of LGMD, the genes responsible for the other forms have not yet been identified.
The Major Forms of MD
- Congenital muscular dystrophy (CMD): A rare form present from birth. Symptoms usually progress slowly and include general weakness, flaccid tone, bent joints, and slow motor development. Fukuyama CMD is another type of congenital CMD that usually involves mental retardation
- Facioscapulohumeral muscular dystrophy (FSH): Also known as Landouzy-Dejerine disease. Begins in late childhood to early adulthood. Affects both males and females. Causes weakness in the muscles of the face, shoulders, and upper arms. May also affect the hips and legs.
- Limb-girdle muscular dystrophy (LGMD): Starts in late childhood to early adulthood. Affects males and females. Causes weakness in the muscles around the upper legs and shoulders.
- Myotonic dystrophy: Also known as Steinert’s disease. Symptoms may begin any time from birth through adulthood. Affects males and females. Generalized weakness first occurs in the face, hands, and feet. People with this disease also have myotonia, the failure of the muscles to relax normally after use.
- Distal muscular dystrophy (DD): Symptoms begin in middle age or later. Causes weakness in the muscles of the feet and hands.
- Duchenne muscular dystrophy (DMD): The most severe form. Affects young boys. Causes progressive muscle weakness, usually beginning in the legs.
- Emery-Dreifuss muscular dystrophy (EDMD): Affects young boys. Causes muscle contractions in the calves; weakness in the calves, shoulders, and upper arms; and problems in the way electrical impulses travel through the heart to make it beat.
- Oculopharyngeal muscular dystrophy (OPMD): Affects adults of both sexes. Causes weakness in the eye muscles and throat.
MD can affect people of all ages. Although some forms first become apparent in infancy or childhood, others might not appear until middle age or later. Duchenne muscular dystrophy (DMD) is the most common form affecting children, while myotonic MD is the most common form affecting adults.
There are three primary types of inheritance in which the faulty gene that causes MD can be passed along to offspring:
- X-linked recessive — Genes that are X-linked recessive are carried by the female on one of the X chromosomes that determine the sex of the child. As such, only boys will inherit conditions determined by these genes. Their mothers, known as carriers, will usually not show signs of the disease. A son of a carrier of MD has about a 50 percent chance of developing the disease, while a daughter of a carrier has a 50 percent chance of being a carrier. If a boy is unaffected, he cannot pass on MD. However, daughters from a man with an X-linked dystrophy will all be carriers.
- Autosomal dominant — In the case of autosomal dominant inheritance, an affected person will have MD even though only one faulty gene has been passed along. This faulty gene can come from either parent, and it can affect either sex. Each child of an affected parent will have a 50 percent chance of developing MD. For this type of inheritance, the severity of MD can vary greatly. It can be so mild that it is not recognized but it can also be severe.
- Autosomal recessive — For this type of inheritance, both parents must carry and pass on the faulty gene. Neither parent shows any symptoms, but each of their offspring, regardless of gender, will have a 25 percent chance of developing the disease.
What are the symptoms?
Muscle weakness is the common major symptom of all types of muscular dystrophies. However, the location of symptoms, age at which they begin, and how they progress vary. Symptoms for specific types are listed here in alphabetical order.
- Becker muscular dystrophy (BMD): Symptoms are similar to DMD, but usually milder. Patients with BMD often can walk independently into their twenties or early thirties because the same pattern of leg weakness, unsteadiness, and permanent muscle tightening (contractures) occurs later with BMD. Symptoms may also include mild and slowly progressing scoliosis, heart muscle disease (cardiomyopathy), irregular heartbeats (arrhythmias), congestive heart failure, fatigue, shortness of breath, chest pain, and dizziness. Eventually, patients may need a ventilator to help with breathing because of respiratory weakness.
- Congenital muscular dystrophy (CMD): Infants with CMD have severe muscle weakness from birth, with very little muscle tone and voluntary movement. Children with CMD, however, can eventually learn to walk, with or without the aid of an assisting device. CMD patients can live into young adulthood or beyond. Children with Fukuyama CMD are rarely able to walk, and have severe mental retardation. Most children with this type of CMD die in childhood.
- Facioscapulohumeral muscular dystrophy (FSH): Symptoms of FSH are vary greatly. They most commonly begin in the teens or early twenties, but infant or childhood onset has been documented. Symptoms usually begin with difficulty lifting objects above the shoulders. The weakness in the shoulders causes scapular winging, where the shoulder blades stick out sharply from the back. Muscles in the upper arm often lose bulk sooner than the forearm. Symptoms related to facial weakness include loss of facial expression, difficulty closing the eyes completely, and the inability to drink with a straw, blow up a balloon, or whistle. Contracture of the calf muscles may cause frequent tripping over curbs or uneven areas. The earlier the onset of symptoms, the more likely the patient is to need a wheelchair for mobility. Children with FSH often develop partial or complete deafness.
- Limb-girdle muscular dystrophy (LGMD): While there are many forms of LGMD, two major clinical forms are most commonly recognized. One is a severe childhood form that is similar in appearance to DMD. The second form appears in a person’s teens or twenties. Symptoms include progressive weakness and loss of the muscles closest to the trunk. Leg contractures may occur. The patient usually loses the ability to walk about 20 years after the onset of symptoms. Some people with LGMD need to use a ventilator because of respiratory weakness. Lifespan may be slightly shortened.
- Myotonic dystrophy: Symptoms of myotonic dystrophy include facial weakness and a slack jaw, drooping eyelids (ptosis), and muscle loss in the forearms and calves. Other symptoms may include difficulty relaxing the grasp, especially with cold objects; heart arrhythmias and block; constipation; cataracts; retinal degeneration; low IQ; frontal balding; skin disorders; atrophy of the testicles; sleep apnea; and insulin resistance. People with myotonic dystrophy usually experience low motivation and an increased need for sleep. Most sufferers are severely disabled within 20 years of the onset of symptoms, but do not require a wheelchair.
- Distal muscular dystrophy (DD): Symptoms include weakness in the hands, forearms, and lower legs. At first, patients may notice difficulty with activities involve fine motor skills, such as tying shoes or fastening buttons. Symptoms progress slowly, and the disease usually does not affect life span.
- Duchenne muscular dystrophy (DMD): Symptoms begin to show in pre-school boys. First, the legs are affected, causing walking difficulties and balance problems. As the disease progresses, the calves begin to swell with fibrous tissue rather than with muscle, and feel firm and rubbery. For this reason, DMD is also known as pseudohypertrophic muscular dystrophy. By age five or six, the child will have contractures (permanent muscle tightening), mostly in the calf muscles. This tightening pulls the foot down and back, so the child must walk on tip-toes. By age nine or ten, it becomes difficult to climb stairs or stand without help. By age 12, most boys use a wheelchair. Scoliosis (a side-to-side spine curvature) and (a front-to-back curvature) often appear at this time. DMD also causes diaphragm weakness, so it is difficult to breathe and cough. This affects the child’s energy level and increases lung infections. With the help of a ventilator, patients with DMD often live into their twenties and beyond. About one third of DMD patients have some learning disabilities that require individualized educational plans.
- Emery-Dreifuss muscular dystrophy (EDMD): This type of muscular dystrophy usually begins with muscle contractures, and then progresses to muscle weakness that affects the shoulder and upper arm. The weakness then progresses to the calf muscles. Most men with EDMD can live into middle age. Another symptom of EDMD is a defect in the heart’s rhythm (heart block), which is usually treated with a pacemaker.
- Oculopharyngeal muscular dystrophy (OPMD): Symptoms of OPMD are confined to weakness in the muscles controlling the eyes and throat. Symptoms include drooping eyelids and difficulty swallowing (dysphagia). The weakness progresses to other muscles of the face and neck, and can occasionally affect the upper parts of the legs. Dysphagia can cause food or saliva to enter the airways, called “aspiration,” which can cause pneumonia.
After carefully evaluating a patient’s medical history, the doctor will perform a thorough physical exam to rule out other causes of the symptoms. If MD is suspected, there are tests that can be used to solidify a diagnosis. These tests might include:
- Blood tests — When blood tests are performed to test for MD, the doctors are looking for an enzyme called creatine kinase (CK). This enzyme rises in the blood due to muscle damage or deterioration and might reveal some forms of MD before any physical symptoms appear.
- Muscle biopsy — During a muscle biopsy, a small piece of muscle tissue is removed and examined under a microscope. If MD is present, changes in the structure of muscle cells and other characteristics of the different forms of MD can be detected. The sample can also be stained to detect the presence or absence of particular proteins.
- Electromyogram (EMG) — An EMG is a test that measures the muscle’s response to stimulation of its nerve supply (nerve conduction study) and the electrical activity in the muscle (needle electrode examination). Both components of the EMG are very useful in diagnosing MD.
- Genetic tests — Several of the muscular dystrophies can be positively diagnosed by testing for the mutated gene involved. These include Duchenne, Becker, distal, and some forms of limb-girdle and Emery-Dreifuss dystrophies.
There is no cure for muscular dystrophy, although some drugs still in the trial stage have shown promise in slowing or delaying the progression of the disease. For the time being, treatment is aimed at preventing complications due to the effects of weakness, decreased mobility, contractures (inability to relax muscles), scoliosis, heart defects. and respiratory weakness.
Treatment approaches might include:
- Physical therapy — Physical therapy, especially regular stretching, is important in helping to maintain the range of motion for affected muscles and to prevent or delay contractures. Strengthening other muscles to compensate for weakness in affected muscles might be of benefit as well, especially in earlier stages of milder MD. Regular exercise is important in maintaining good, overall health, but strenuous exercise might damage muscles further. For patients whose leg muscles are affected, braces might help lengthen the period of time they can walk independently.
- Surgery — If a patient’s contractures have become more pronounced, surgery might be used to relieve the tension by cutting the tendon of the affected muscle then bracing it in a normal resting position while it regrows. Other surgeries are used to compensate for shoulder weakness in facioscapulohumeral MD, and to keep the breathing airway open for people with distal MD who sometimes experience sleep apnea. Surgery for scoliosis is often needed for patients with Duchenne MD.
- Cardiac care — Arrhythmias are often a symptom with Emery-Dreifuss and Becker MD, and might need to be treated with special drugs. Pacemakers might also be needed in some cases, and heart transplants are becoming more common for men with Becker MD.
- When the muscles of the diaphragm and other respiratory muscles become too weak to function on their own, a patient might require a ventilator to continue breathing deeply enough. Air might also be administered through a tube or mouthpiece. It is therefore very important to maintain healthy lungs to reduce the risk of respiratory complications.
- Occupational therapy — Occupational therapy involves employing methods and tools to compensate for a patient’s loss of strength and mobility. This might include modifications at home, dressing aids, wheelchair accessories, and communication aids.
- Nutrition — Nutrition has not been shown to treat any conditions of MD, but it is essential to maintaining overall good health.
Treating Muscular Dystrophy by Chinese Herbal Medicine.
We here list several herbal formulas which were verified to be effective after long run in treating muscular dystrophy. They are for the reference for Chinese herbal doctors.
- Formula 1. Ma Qian Dystrophy Decoction
Radix Astragali 10g
Fructus Crataegi 10g
Rhizoma Atractylodis Macrocephalae 10g
Radix Angelicae Sinensis 10g
Radix Salviae Miltiorrhziae 10g
Radix Rehmanniae preparata 10g
Herba Cistanchis 10g
Radix Cyathulae 10g
Cortex Eucommiae preparata 10g
Radix Glycyrrhizae 6g
Rhizoma Cnidii 6g
Radix Aconiti Lateralis Preparata 6g
Ramulus Loranthi 30gAdministration:
One time one day, decocted with water. 20 days constitute one treatment course. In combination with acupuncture (Jian Miu, Qu Chi, He Gu, Bi Guan, Fu Tu, Zu San Li).Clinical Results: 30 patients accept the treatment. 12 gained elevated improvement, 12 gained general improvement, 6 gained no improvement.
Amyotrophy Convalescence Pill Series to Treat Muscular Dystrophy
In the aim to well understand the effect of Amyotrophy Convalescence Pill upon treating MD , doctors in Ghangcheng Myelophathy Hospital carried out related test which lasted almost 6 years and here we summer up testing result. We cannot guarantee all numbers are exactly as they were, because to trace every patient still remains a formidable hard word due to the difficulity in communication, concern in exposing the practical condition to outside from patients’ side, financial support shortage, etc.
- The following indicators in blood check can help doctors give correct diagnosis. They include creatine kinase (CPK), isoenzymes of creatine kinase (CPK- MB), lactate dehydrogenase (LDH), pyruvate kinase (PK), myohemoglobin (Mb). Electromyogram and biopsy reports should not be omitted due to their reference value.
- Within 523 cases, 412 male and the remaining 121 are female. Their average age of onset is 8.83, the average course of disease lasts 11.46 years. Among them patients of false hypertrophy type number 392, patients of limb girdle type number 36, patients of face- scapula –thigh type number 31. Patients with family history of the disease number 184.
- Patients with MD were offered with Motor Neurons Refunction Capsule, Bulboparalysis Rehabilitation Pill. For patients with serious complications they were advised to take Vital Energy Supplementing Capsule.
Therapeutic effectiveness Standard:
- Outstanding Improvement: all indicators decrease more than 30%. They include including creatine kinase (CPK), isoenzymes of creatine kinase (CPK- MB), lactate dehydrogenase (LDH), pyruvate kinase (PK), myohemoglobin (Mb).
- Moderate Improvement: all indicators decrease less than 30%
- No Improvement: no any changes, all indicators remain unchanged.
Deterioration: conditions deteriorate, all indicators increase at the same time.
- 2 months constitute one therapeutic course.
- 319 cases reported moderate improvement after taking the herbal medicine 2 months, 136 cases reported outstand improvement after taking the medicine. So, the improvement rate totals 86.91% for one treatment course. 68 cases reported no improvement. No cases reported deterioration after taking the medicine. 308 cases reported they noticed the hard false hypertrophy of gastrocnemius muscle became soft and shrinked more than 2.5 cm, the atrophic muscle of proximal end recovered vitality, muscle strength increased, the activity extent increased in comparison with before. Some cases reported the improvement in the ability to stand up alone without any support. For more information regarding Amyotrophy Convalescence Pill Series please CLICK HERE.