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Peter Butyaev - SMA (Russia) Posted on September 15, 2014

Author Tracy Views Posted at 2014/09/15

Name: Peter Butyaev 
Sex: Male
Country: Russia
Age:3 years
Diagnosis: Spinal Muscular Atrophy (SMA)
Date:August 17, 2014
Days Admitted to Hospital: 28 days

Before treatment:
The patient was born full-term through normal delivery. He was normal at birth. There was no suffocation at birth. His breath and sucking were normal after birth. The patient had weak muscle when he was 6 months old. He couldn't sit like other babies. He still couldn't stand when he was 1 year old and was diagnosed in a local hospital. He received EMG examination and DNA test, he was diagnosed with spinal muscular atrophy. He received L-carnionc and coenzyme Q10 for treatment, but the effect was bad. Before the treatment, the patient could maintain sitting position by himself. He couldn't sit-up, turn over, stand or walk by himself. His upper limbs could move, could grasp toys. His language function and intelligence development were normal. He could speak discontinuous sentence. He could repeat other's language. He could expel urine and defecate normally. There was no breathing difficulty or swallow difficulty.

From onset of disease. The patient had normal diet. The defecation and urine were normal. There was no family genetic disease.

Admission PE:
Temperature: 36.6 degree, Hr: 90/min, Br: 21/min. Bp: 90/55mmHg, Height: 100cm, weight: 12Kg. The skin and mucosa were normal, with no petechia or yellow stain. Thorax was symmetrical with no deformity. The respiratory sounds in both lungs were clear, with no dry or moist rales. The cardiac rhythm was regular, with no obvious murmur. The abdomen was flat and soft, with no palpable masses. The liver and spleen were not enlarged. There was no swelling in both lower limbs.

Nervous System Examination:
Peter Butyaev was alert. His speech was normal. He could express his demands normally. He could say discontinuous sentence and repeat other people's words.  He couldn't cooperate with the calculation ability, insight and orientation examinations. Both pupils were equal in size, the diameter was 3.0mms. Both pupils reacted normally to light stimulus. The movement of the eyeballs was flexible. There was no obvious nystagmus. The vision was normal through simple measurement. He couldn't cooperate with the examination of visual field. Muscle strength: the muscle strength of both upper limbs' near-end was at level 3-, the muscle strength of both upper limbs' far-end was at level 3+. The hold power of both hands was at level 4-. The muscle strength of both lower limbs' near-end was at level 2+ and the muscle strength of both lower limbs' far-end was at level 2-. He could maintain sitting position by himself, the sitting position was not good. The sitting time was short. He could turn to lateral side. He couldn't stand or walk. Both upper limbs could grasp toys. The muscle tone of four limbs was reduced. Bilateral patellar tendon reflex of upper limb was weaken, bilateral tendon reflex of both lower limbs disappeared. Bilateral pathological reflex was negative. He was unable to do the finger-to-nose test, the fingers coordinate test and rapid rotation test. He had difficulty with the heel-knee-tibia test. The patient couldn't cooperate with the sensation examination. There was no meningeal irritation.

Treatment:
We initially gave Peter Butyaev a complete examination, and he was diagnosed with spinal muscular atrophy. He received treatment to improve the blood circulation in order to increase the blood supply to the damaged neurons and to nourish them. This was accompanied with daily physical rehabilitation training.

Post-treatment:
After treatment, the patient's condition has improved. The iliopsoas muscle strength and four limbs' muscle strength has increased. He has stronger muscle to support himself when he sit alone. He can maintain longer time in sitting position and the sitting position is better than before. The muscle strength of right upper limb's near-end is at level 4 and the muscle strength of right upper limb's far-end is at level 4+. The muscle strength of left upper limb's near-end is at level 4- and the muscle strength of left upper limb's far-end is at level 4+. The hold power of both hands is at level 4+. The muscle strength of both lower limbs' near-end is at level 3- and the muscle strength of both lower limbs' far-end is at level 2.

Email from Perter's parents:

Date: 2014-11-04

Hello dear Doctor!

Here is the test results for Petr Butiaev.
Will wait for your recommendations.

Have a nice day!
Nick
 

 

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