Leonid Pastuhov - Spinal muscular atrophy (Russia) Posted on August 7, 2012

Name: Leonid Pastuhov        
Sex: Male
Country: Russia
Age: 2
Diagnosis: Spinal muscular atrophy (SMA)
Admission Date: July 5, 2012
Days Admitted to Hospital: 28

Leonid's parents were concerned about the lack of sleep he was getting. The length of time of his sleeping was about 30 minutes, and then he would wake up. After waking up he would often scream and cry. Leonid's parents brought him to their local hospital where he was given a CT examination. The results showed hydrocephalus. About 2 weeks after the medication was given, his parents noticed that he had difficulty standing as well as difficulty walking unassisted. The walking ability got progressively worse. When Leonid was 1 years old, his parents brought him back to the hospital where the EMG results showed neurogenic damage. He was diagnosed with spinal muscular atrophy (SMA) type 2. Leonid received physical rehabilitation therapy, but very little progress was seen. He developed weakness in the legs and he also had difficulty turning over. His difficulty with walking continued as well.

Admission PE:
There was muscle atrophy in the distal end of both lower limbs. The muscle strength of the neck, waist and back was poor. The patient had difficulty supporting his head while in the supine position and had to first turn over while using both hands on the bed surface for support, then he could sit up. He couldn't straighten the small of the back while in the kneeling position. He couldn't straighten the lower limbs while standing without some assistance.
Nervous System Examination:
Leonid was alert. The comprehension and judgment ability were normal. The cognitive ability was normal. The patient couldn't cooperate with the calculation ability and insight examination. The speech was clear and fluent. The ability of expression were normal. Both pupils were equal in size, the diameter was 3.0mms. Both pupils reacted normally to light stimulus. The range of movement of the eyeballs was normal. The muscle strength of both upper limbs was level 5. The muscle strength of both lower limbs was level 2. The muscle tone of all four limbs was normal. The tendon reflexes of all four limbs were diminished. The abdominal reflexes were elicited normally. The bilateral palm jaw reflex was negative. The bilateral Hoffmann's sign was negative. The bilateral Babinski's was negative. The patient couldn't cooperate with the sensation examination.

We initially gave Leonid Pastuhov a complete examination, and his diagnosis was clear. He received treatment to improve the blood circulation in order to increase the blood supply to the damaged neurons and to nourish them. He also received treatment to enhance his immunity. This was combined with daily physical rehabilitation training.

The muscle strength of the neck and lumbar spinal cord has improved. The supporting ability of the neck has improved. The patient can sit up quicker than before from the supine position. The small of the back is straighter than before when he is in the kneeling position. With some assistance, the lower limbs can straighten while the patient is in the standing position. The muscle strength of both lower limbs has been enhanced. The muscle strength of both lower limbs is level 3. The patient can lift the lower limbs off the bed surface while in the supine position.

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