Nairi - Spinal Muscular Atrophy (Uruguay) Post on March 19, 2012

Name: Nairi Carolina Koundahdjian                     

Sex: Female

Country: Uruguay

Age: 8

Diagnosis: Spinal Muscular Atrophy

Admission Date: February 10, 2012

Days Admitted to Hospital: 28

Before Treatment:

Nairi had a normal birth, but at about one and a half years old, she began falling while walking, a lot more than normal. When her parents brought her to the hospital the doctors said there was nothing abnormal about this and that she was just going through the normal process of learning to walk. At 3 years old, Nairi was still falling often while trying to walk. Although she was able to stand by herself after falling, she needed help to stretch her arms. She was brought to the local hospital again and received an EMG and DNA examination. The EMG results showed neurogenic damage. Nairi was diagnosed with Spinal Muscular Atrophy and prescribed L-carnionc for treatment, but this medication was innefective. About a year ago, Nairi's walking ability greatly decreased further and her walking posture continued to be abnormal. At present, she can turn over, sit up and stand up by herself.

Admission PE:

Nairi could turn over, sit up and stand by herself. She had a duck-like walking gait. She needed to use the wall to support herself while trying to walk.

Nervous System Examination:

Nairi was conscious and alert. Her speech was fluent. The calculation abilities, cognition and orientation were 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 obvious nystagmus. The examination results of the vision and visual field were normal. The neck muscles and the shrugging ability of the shoulders were strong. 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 bilateral biceps reflex and bilateral radial periosteal reflex was weakened. The bilateral patellar tendon reflex was diminished. The bilateral Achilles tendon reflex was elicited normally. The bilateral palm jaw reflex was negative. The grasping reflex was negative. The bilateral Hoffmann's sign was negative. The Bilateral Babinski's sign was negative. Nairi could finish the finger-to-nose-test, digit opposition test and rapid rotation test almost normally. She had difficulty with the heel-knee-shin test.


We initially gave Nairi a complete examination, and her diagnosis was clear. She received treatment to improve the blood circulation in order to increase the blood supply to the damaged neurons and to nourish them. She was also given daily physical rehabilitation training to promote the recovery of the motor functioning.


The iliopsoas muscle strength has increased from before. The adduction strength of the lower limbs while in the squatting position has increased. The strength against resistance has increased and the left side strength against resistance has increased more obviously than on the right side. She is able to walk a longer distance and doesn't have to use the wall for support as much as before.


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