Elizabeth Belyaev - Spinal Muscular Atrophy ( Russia ) Posted on September 19, 2012

Name: Elizabeth Belyaev    
Sex: Female
Country: Russia
Age: 9
Diagnosis: Spinal Muscular Atrophy (Type 2)
Admission Date: August 5, 2012
Days Admitted to Hospital: 26

Before treatment:
The patient suffered from weakness of lower limbs when she was six months old. She couldn't stand when she was one year old. Then she was diagnosed with Spinal Muscular Atrophy. She received rehabilitation and massage for therapy. But the treatment was not effective. She received genetic testing in November 2009 and was clearly diagnosed with Spinal Muscular Atrophy (Type 2). The movement difficulty of lower limbs was aggravated as the disease progressed. From 2000, the patient suffered from scoliosis and chest deformity. The patient said her breathing was not influenced. But the patient need a long time to heal when she suffered from upper respiratory tract infection.  At present, the patient has dyskinesia and poor endurance. She couldn't take care of herself. The movement of upper limbs was limited. She, also, was unable to stand or walk.

Nervous System Examination:
Elizabeth Belyaev was alert. Her speech was fluent. Her memory, calculation abilities and orientation were all normal. 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 nystagmus. Through the course scale, the examination of the vision and the visual field were normal. The forehead wrinkle pattern was symmetrical. The bilateral nasolabial sulcus was equal in depth. The teeth were shown without shift. The tongue was in the center of the oral cavity. There was atrophy and tremor in the tongue muscle. She could chew normally. There was no cough when she swallowed. She had weak muscle to swivel or shrug shoulders. The muscle strength of both upper limbs was at level 3- and the muscle strength of both lower limbs was at level 2-. The hold power of both hands was level 2.  There was muscle atrophy in the upper limbs, lower limbs, shoulder girdle and torso. The muscle tone of all four limbs was decreased. The tendon reflexes of all four limbs were not elicited. The bilateral palm jaw reflex was not elicited. Bilateral palm jaw reflex was negative. The grasping reflex was negative. Bilateral Hoffmann's sign was negative. The bilateral Babinski's sign was negative. She had difficulty with coordinate movement examination. There were no signs of meningeal irritation.

We initially gave Elizabeth Belyaev a complete examination, HGB 118g/L. She was diagnosed with Spinal Muscular Atrophy (Type 2), and mild anemia. She received treatment to improve the blood circulation in order to increase the blood supply to the damaged neurons, nourishment for the nerves and anti-anemia treatment. She was also given daily physical rehabilitation training to promote the recovery of motor functioning.

Elizabeth Belyaev's heart rate is lower than before. The heart rate is between 80-95/min. She has better ability to control both upper limbs and the muscle strength of both upper limbs has increased. The muscle strength of both upper limbs is level 3. The hold power of both hands is level 3. The muscle strength of both lower limbs is increased slightly. Before treatment the patient felt pain when she turned over.  After treatment, the joint pain was relieved when she turns over.

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