Kanitha blazov-Limb-girdle muscular dystrophy-(Indonesia)-Update on May 4th, 2016

Name: Kanitha blazov  
Sex: Female
Country: Indonesia
Age:6 years
Diagnosis:Limb-girdle muscular dystrophy (2G type)
Date: August 21, 2014
Days Admitted to Hospital: 22 days

Before treatment:
The patient suffered from slightly walking gait abnormal 4 years ago, without obvious incentive. But the disease was not treated. Then the patient suffered from walking disorders gradually. The patient suffered from weakness of both lower limbs. She had walking difficulty and suffered weakness of both upper limbs. The patient received muscle biopsy and was diagnosed with Limb - girdle muscular dystrophy. She received rehabilitation training, but the muscle strength had no obvious improvement. Before the treatment, the patient had abnormal sitting posture. Her spine had malformation. The muscle strength of both upper limbs was at level 3. The muscle strength of both lower limbs was at level 2. She was unable to walk.

From the onset of the disease, the patient's spirit was normal. The diet and sleep quality were normal. The defecation and urine were normal. The weight had no obvious changes. Her parents and brothers are all healthy. There is no trait of such disease in her family.

Admission PE:
Bp: 104/63mmHg; Hr: 99/min, temperature: 36.6degrees. Br: 19/min. Height: 117cm, weight: 20Kg. She had abnormal seat position. The patient spine had kyphosis and bent to right side slightly. The skin and mucosa were normal, with no yellow stains or petechia. Through auscultation, the respiratory sounds in both lungs were clear, with no rales. The heart sounds were strong, the cardiac rate was normal, with no obvious murmur in each valve. The abdomen was flat and soft. There was no pressing pain or rebound tenderness. We didn't touch the liver or the spleen under the ribs. There was mild atrophy in shoulder girdles and pelvic girdle muscle. She had winged scapula. There was mild contracture deformity in bilateral knee joints. The knee joints presented with 170 degrees. Her legs presented X type. She was unable to walk.

Nervous System Examination:
Kanitha blazov was alert, and her speech was fluent. Her spirit was good. Her memory, calculation ability and orientation were 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 her 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 she drummed her cheeks.  She could raise the soft palates strongly. The muscle strength of turn neck was at level 3. The muscle strength to shrug shoulders was at level 2. The muscle strength of both upper limbs to outreach was at level 2. The muscle strength of both upper limbs to bend and stretch was at level 3. The muscle strength of upper limbs to rotate forward and backward was at level 3. The hold power of both hands was at level 3. The muscle strength of both lower limbs was at level 2. The muscle tone of four limbs was low. The tendon reflex of her four limbs reduced obviously. The abdominal reflex was not elicited. Bilateral palm jaw reflex was negative. Bilateral Hoffmman sign and Rossilimo sign were negative. Bilateral Babinski sign was negative. The deep, shallow sensation and epicritic sensation were normal through loose measure. She did the finger-to-nose test, fingers coordination movement test and the rapid rotation test almost normal. She was unable to finish the heel-knee-shin test. There were no signs of meningeal irritation.  

Treatment:
We initially gave Kanitha blazov a complete medical examination. She was diagnosed with Limb-girdle muscular dystrophy (2G type). The patient received treatment for nerve regeneration, muscle fiber repair and to activate stem cells in vivo. She received treatment to improve blood circulation in order to increase the blood supply to the damaged neurons, to nourish the nerves and to promote nerve regeneration. This was accompanied with physical rehabilitation treatment.

Post-treatment:
The patient's condition has improved. Her muscle strength and energy has improved. The muscle strength of whole body is strengthened. She can stretch right knee joint straighter than before. The muscle strength of neck turn to left side is at level 3+. The muscle strength of neck turn to right side is at level 4. The muscle strength to shrug shoulders is at level 3. The muscle strength of left upper limb to outreach is at level 2+. The muscle strength of right upper limb to outreach is at level 3-. The muscle strength of both upper limbs to bend is at level 4. The muscle strength of left upper limb to stretch is at level 3+. The muscle strength of left arm to rotate forward and backward is at level 3+. The hold power of left hand is at level 3+. The muscle strength of right upper limb to stretch is at level 3. The muscle strength of right arm to rotate forward and backward is at level 3. The hold power of right hand is at level 3. The muscle strength of both lower limbs is at level 2+. 
 

E-mails:

Date:2016-5-3

Dear Dr. Wu,
Herewith we would like to inform you on Kanitha's current condition.
1. Her growth or progress outdoor mobility there is significant improvement
2. But for hydrotheraphy in the swimming pool she can swim by her self.
Her medicine is running out.
The medicine suits her.
Please your kind advice for her next treatment. Is there any new medicines for her?
We cannot import medicines from chine due to government regulation.
Please advice if there is new medicines or should she take the current medicines?
Please help in order her strenght can get better.
Thankyou very much.
Regards,
Sigit himawan and Dian sovana

 

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