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Spinal Muscular Atrophy

Author Admin Views Posted at 2013/12/29

Dr. Like Wu, Xiaojuan Wang

Patient is a six and a half year old boy, he is the second child born to his parents, and his delivery was full-term, normal. Six months after his birth, the movements of his lower limbs were greatly reduced, and then his upper limbs were affected. He cannot lift his arms or legs anymore, and the weakness in his four limbs has progressed gradually. He has flaccid paralysis, and he cannot stand up or walk, and can only sit and lay in bed. He has difficulty swallowing and cannot control his bladder and bowel movements. His brother had the same symptoms of progressive weakness, and had died at 11 years old. Patient is alert; he can answer questions adequately. Patient had severe muscular atrophy of his limbs and intercostal muscles. The muscle tone and muscle force had decreased greatly. He had mild malformation of both hands because of the muscle atrophy. His hands could only move slightly and he could hold some things. His spinal cord is normal. The tendon reflex can be reduced by examination. EMG indicated neurogenic damage. He was diagnosed with PSMA (progressive spinal muscular atrophy), Type II.

After his admission, patient was diagnosed with SMA (spinal muscular atrophy), Type II.
Treatment plan:
1. Medications are given to improve the internal environment, protect neurons and prepare the stem cells for activation and implantation.
2. Activate the patient´s own neural stem cells and repair part of the neural system damage.
3. Four separate neural stem cells implantations will be given by lumbar puncture, a series of medications will be given to help the stem cells to differentiate.
4. Chemical and physical stimulation is given to accelerate the stem cells differentiation process and help the new neurons express normal function, which will assist in the recovery of the normal functioning of the body.

Treatment results:

After the systemic treatment, the patient had fully improved. His movement ability improved; swallowing ability improved, movement in his arms and legs are better than before. His muscular atrophy has been greatly alleviated. Muscle volume has increased, and his weight increased to 3.5 Kg. His muscles are much stronger than before, he can raise his arms easier, and his hands can grasp things with more flexibility. With his parent´´s assistance, he can walk several hundred meters.

Case analysis:
SMA is a kind of autosomal recessive hereditary disease. Patient had weakness and muscular atrophy because of the motor neuron degeneration of the anterior horn of the spinal cord. It can be divided into SMA-Ⅰ, SMA-II and SMA-Ⅲ (infantile, juvenile and middle type) according to the onset age and the degree of muscle weakness. In general, males are affected more often than females, and siblings suffer from the same disease, from early age to adulthood. Since the patient had a genetic defect, even in the early stage, the anterior horn cells were normal, but with the development of the pathologic process of neuron apoptosis, the patient´´s motor neurons had continuous degeneration necrosis. Patient will suffer from movement disturbance and lose many functions such as walking, swallowing, and even breathing, caused by the progressive muscular degeneration. Death from respiratory failure is the eventual outcome. The traditional method of treatment is maintenance therapy: to prevent or treat different kinds of complications, prevent lung infection, bedsores, malnutrition, skeleton deformity, movement disturbance and mental disorders. But these treatment methods cannot help to improve the condition of the spinal anterior horn cells and they cannot improve the patient´s mobility and overall quality of life. The stem cells have great potential for differentiating into normal neurons, after implantation, and can replace part of the motor neuronal loss, as well as repair part of the motor neuronal damage. In addition, these neural stem cells carry normal genes, and after implantation, our doctors can control and help the stem cells express normal gene function, and repair the damage. Now stem cell treatment can be the first and best option for the treatment of SMA.

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