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Muscular Dystrophy

Author Julia Views Posted at 2014/02/28

by Drs. Like Wu, XiaojuanWang and Paul Xu

Medical Record Abstract: The patient is a 6-year-old male. He was presented with progressive, aggravated and incapacitation of all four limbs for the past 3 years.

Medical History: The baby was born full-term, normal delivery, six years ago, and is the first born child. He was able to walk when he was 18 months old, and run slowly, but unstably. After two years old, he would fall down frequently, even when walking on a flat surface. He was incapable of walking steadily and climbing was difficult but he could do it gradually and slowly. Walking upstairs required holding onto the railings. He had difficulty standing after being in a squatting position, so he would have to hold onto an ankle and knee to standup. His parents discovered that his calf muscles had become stiff and were gradually thickening. He had been treated at Huashan Hospital; the diagnosis was progressive Duchenne myotrophy. The patient received myo- inoculation fluid, ATP and other treatments, but his condition did not improve.

Physical Examination: The patient appeared emaciated, shallow complexion, and walked with a limp. His heart, lungs, liver and spleen were all ok. Muscle atrophy throughout the entire body was obvious. Muscle volume decrease in the arms and legs, scapular belt, and lower back muscles were the most obvious. Pseudo-hypertrophy of bilateral lower limb gastrocnemius. Pterygoid scapula, ankle varus. Myodynamia of all four limbs was levels 3-4. Gower drafts (+). The knee reflex was noticeably weakened, with no pathologic reflex.

Auxiliary Inspection: CPK4868Iu/L, LDH1429 Iu/L, GPT435 International unit, GOT623 International unit. Electromyogram showed the patient has myogenic damage.

Admissions diagnosis: progressive muscular dystrophy, Duchenne type.

Treatment Procedure:

1. The patient received mesenchyma stem cells transplantation through a partial intramuscular injection and endovascular grafting methods.

2. Treatment support: We encouraged the patient to engage in daily activities as much as possible, increase nutritional intake, and avoid too much physical activity, in order to decrease the amount of fatigue and prevent infection.

3. The recovery treatment includes physiotherapy and orthopedic treatment to prevent and repair deformities and contractures.

4. Auxiliary treatment with Chinese Traditional Medicine.

Treatment Results:

After the treatment, the patient has shown good improvement. He is in good spirits, with an increased appetite. Both legs have more strength than before. He can persist in the physical training for half an hour every day, can run more than 300 meters without stumbling. He can jump to a height of 10 centimeters and can jump with one foot at a time. He can walk upstairs by himself. He can squat down and stand up and turn his body with complete freedom and the feeling of weakness in his legs has disappeared.

Case Analysis:

Progressive muscular dystrophy refers to a group of muscular system hereditary disease. As a result of a genetic mutation, there is a lack of protein called dystrophin in the cell membranes of muscles. This causes necrosis in the muscle fibers.

The main clinical manifestation includes progressive symmetrical skeletal amyotrophy, eventually leading to complete loss of motor function. Traditional treatments for progressive muscular dystrophy are ineffective, but with the development of the science of stem cell technology, researchers have a lot of hope in what stem cell treatment can offer, with the stem cells' repair and regeneration abilities. A series of research experiments have confirmed that transplants of mesenchyma stem cells, through intravenous injections and partial intramuscular injections, into mice with progressive muscular dystrophy, in vivo, can regenerate muscle fiber and differentiate into skeletal muscle.

The stem cells have proliferation and multi-directional differentiation characteristics. These characteristics make it possible to decide which stem cells can be used as "seed cells' to treat progressive muscular dystrophy. Stem cells transplanted into the endovascular system can reach the area of damaged muscle tissue, and repair the entire body's pathologically changed muscle fibers.

Stem cells transplanted into the muscles can partially release cell factors in pathologically changed muscles to repair the damaged myo membrane and the damaged muscle cells, directly. The nerves and blood vessels can grow in the damaged areas so that there is an increase in muscle strength, capacity and function. At the same time, the transplanted xenogenous stem cells have the normal anti-amyotrophy protein gene; they can synthesize some anti-amyotrophy protein (dystrophin). This can slow down or even stop the destruction of muscle fibers, and promote the repair of muscle fibers. And at the same time, the stem cells local transplantation can reduce the time and distance to the affected areas, reducing damage to surrounding muscle fibers. This kind of stem cell transplantation treatment has obvious effectiveness without any apparent adverse reactions or complications and we have found it to be highly successful in the treatment of progressive muscular dystrophy.



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