Santiago Javier Zabala-Spinal Muscular Atrophy-(Argentina)-Posted on Sept.18th, 2015

Name: Santiago Javier Zabala
Sex: Male
Nationality: Argentina
Age: 25 Years
Diagnosis: 1. Spinal Muscular Atrophy type II (SMA) 2. Sleep Apnea Syndrome(SAS)
Date of Admission: Aug. 10, 2015
Treatment hospital/period: Wu Medical Center/31 days

Before treatment:
He was found to have weakness in whole body at the age of 6 months. He couldn’t stand or walk. His exercise tolerance was bad, so he received gene analysis at the local hospital at the age of 17 months. He was diagnosed as spinal muscular atrophy type II. He received rehabilitation training and used wheelchair to go to school. His family members and school mates helped him a lot. He could eat and write by himself slowly. Three years ago, he lost some functions of his hands. The muscle power of upper limbs was weaker than before in the recent 1 year. He could write or eat; he couldn’t take care of himself at all.  He wants a better life, so he came to our medical center. He had sleep apnea syndrome for many years. His younger brother had the same disease.

His spirit, sleep, diet, urination, excrement and weight were normal.

Admission PE:
Temperature: 36.5℃, Hr: 71/min, Br: 20/min, Bp: 130/94mmHg. His was over weight. There was no breakage or hemorrhagic spots on the skin. He had thoracic deformity. The respiratory sounds in both lungs were slightly low; main breathing was abdominal breathing, with no obvious dry or moist rales. The heart sounds were powerful; the cardiac rhythm was regular, with no obvious murmur. The abdomen was bulge and soft, with no palpable masses. The limbs were shorter than normal. The spinal column was bent to the right side. His four limbs were shorter than normal. He had lateral curvature. Both elbow joints and knee joints had contracture and were unable to straighten. The elbow joints could stretch to 145-150 degrees passively. The knee joints could stretch to an angle of 140 degree passively. Both lower limbs had pitting edema. The degree of blood oxygen saturation at night was 77%-95%.

Nervous System Examination:
The patient was conscious and alert. The calculation abilities, insight ability and orientation were normal. The speech was clear. Both pupils were equal in size, the diameter was 3.0mms. Both eyeballs could move flexibly and the pupils reacted normally to light stimulus. There was no obvious nystagmus. The tongue was centered in the oral cavity, with no teeth deflection. He couldn’t open his mouth completely, he had pharyngeal reflex. The examination of his vision and visual field were normal. He could control his head well. The muscle strength of the neck was at level 2- when he swivel to the left, the muscle strength of neck was at level 3- when he to swivel to the right. The look down action was not good. The muscle power to shrug right shoulder was at level 2+, left shoulder was at level 2-.The muscle strength of right upper limb’s proximal-end was at level 1+, the abductor muscle power of right upper limb’s remote end was at level 2, the adductor muscle power was at level 2+. The left upper limb’s proximal-end was at level 1. The abductor muscle power of left upper limb’s remote end was at level 2-, the adductor muscle power was at level 2. On the left hand only thumb and index finger were straight; his grip was at level 2-. On the right hand only thumb was straight; his grip was at level 2. The muscle strength of both lower limbs’ proximal-end was level 0-1. All toes had slight dorsiflexion and plantar flexion ability. There was muscle atrophy in all four limbs, shoulder girdle and trunk. The muscle tension of all four limbs was reduced. The abdominal reflexes and tendon reflexes of all four limbs disappeared. The bilateral pathological sign was negative. The sensory examination results were normal. His little finger couldn’t do the finger-to-finger test, he couldn’t do rapid rotation test or finger to nose test. He couldn’t do heel-knee-shin test. 

The patient was diagnosed as 1. Spinal Muscular Atrophy type II (SMA) 2. Sleep Apnea Syndrome (SAS). He received 4 times of neural stem cell injection and 4 times of mesenchymal stem cell injection to activate the cells, fixes the damaged nerves, nourishes neurons, and improves circulation and immunity. He wore non-invasive ventilator at night to improve his oxygen. He also had physical rehabilitation to improve his motor function and respiratory function.

After treatment, his breath was better than before, his thorax had enlargement. SAT during night was higher to 90%-99% from 77%-95%. Upper limbs were better, his left upper limbs could do small range of extension movement, and his could touch his manubrium of sternum. The remote end muscle power of his right upper limb was at 3-, he could touch his nose with his hand. The grip of left hand was at level 2, right hand was at level 3. Both of his knees had less contracture. It was 160 degrees when he had passive stretch. When he bent his knees and hips on the bed, he could do small range of abduction exercise. Both of his lower limbs didn’t have dropsy.

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