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Abdulrahman - Progressive spinal muscular atrophy (Qatar) Posted on September 10, 2014

Author Tracy Views Posted at 2014/09/10

Name: Abdulrahman Shaheen Al Naemi
Sex: Male
Country: Qatar
Age:11 years
Diagnoses: 1.Progressive spinal muscular atrophy 2. Intractable constipation
Date:August 12, 2014
Days Admitted to Hospital: 21 days

Before treatment:
The patient was found to present with motor function low when he was 6 months. He couldn't turn over or crawl. His family member took him to Germany for gene test. The test showed he had gene defect and was diagnosed with progressive spinal muscular atrophy type 2. The patient received rehabilitation, but his condition had no obvious improvement. The movement ability of limbs was poor. About 7 years ago, the patient suffered from knee joints Tendon contracture. Then his lower limbs suffered from flexion and varus. The patient always study in wheelchair in school age. Both feet suffered varus deformities gradually. Before the treatment, the patient suffered from obvious muscle atrophy in four limbs and trunk. He was unable to turn over or sit-up. Both wrist twisted or bent and left hand was more severe. He couldn't take care of himself completely.

From the onset of disease, the patient had poor spirit. The sleep and diet were almost normal. The urine was normal. He suffered from severe constipation and defecate every 7-10 days. There was no similar disease in his family member.

Admission PE:
Bp: 125/65mmHg; Hr: 100/min, Br: 18/min, temperature: 36.2 degrees. Weight: 19Kg. He is thin. He suffered from lordosis, thoracic deformity and pigeon breast. The skin and mucosa were normal, with no yellow stains or petechia. Through auscultation, the respiratory sounds in both lungs were clear, with no dry or moist rales. The heart sounds were strong, the cardiac rate was normal, with no obvious murmur in each valves. Abdomen's right side was soft. There was a mass in the left abdomen, size was about 10*6cm. The mass was hard. The liver and spleen was not enlarged. The bowel sound was weakened. There was tendon contracture in bilateral wrist joints, finger joints, knee joints and ankle joints. The fingers in his left hand was buckling and couldn't be straightened. Both knee joints couldn’t be straightened and presented bent. Both knee joints presented with 150 degrees. Bilateral ankle joints was bent inside and had difficulty with bending outside.

Nervous System Examination:
Abdulrahman Shaheen Al Naemi was alert, and his spirit was poor. His speech was clear. His memory, calculation ability, orientation and comprehension were all normal. Both pupils were equal in size and round, the diameter was 3.0mms. Both pupils were sensitive to light stimulus. Both eyeballs had flexible movement. The forehead wrinkle pattern was symmetrical. The ability to close his eyes was strong. The bilateral nasolabial sulcus was equal in depth. The tongue was centered in the oral cavity, with no teeth deflection. There was no air leakage when he drummed his cheeks. He could raise the soft palate strongly. The muscle strength of neck was at level 2. The muscle strength to shrug shoulders was at level 1. The muscle strength of both upper limbs' near-end and both lower limbs were at level 1. The muscle strength of both upper limbs' far-end was at level 3. The muscle tone of his four limbs was low. He was unable to turn over, sit, stand or walk. There were obvious muscle atrophy in bilateral supraspinatus, infraspinatus, latissimus dorsi muscle, deltoid, biceps brachii, triceps brachii, forearm muscles, hand-fingers muscle, quadriceps femoris, biceps femoris and trunk. The tendon reflex of his four limbs was not elicited. The abdominal reflexes were not elicited. Bilateral pathological character were negative. The deep and shallow sensation, sophisticated sensation were normal through preliminary test. He was unable to finish the finger-to-nose test, fingers coordinate movement test and the rapid rotation test. He had difficulty with the heel-knee-shin test. There were no signs of meningeal irritation. The patient received gene test in the hospital before the treatment.

Treatment:
We initially gave Abdulrahman a complete examination. The patient received treatment for nerve regeneration and to activate stem cells in vivo. He received treatment to improve the blood circulation in order to increase the blood supply to the damaged neurons, nourish the nerves, regulate immunity and promote nerve regeneration. This was accompanied with physical rehabilitation treatment.

Post-treatment:
The patient's condition has improved. Weight: 20Kg. The muscle strength of whole body has increased. The muscle strength to turn neck and shrug shoulders are at level 2. The muscle strength of both upper limbs' near-end is at level 2. The muscle strength of both upper limbs' far-end is at level 3. The muscle strength of both upper limbs have improved slightly. The muscle strength of both lower limbs is at level 2.

Read more : http://paper.li/ByrdsForACure/1344887340

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