Alan - Progressive spinal muscular atrophy (Argentina) Post on February 21, 2012

Name: Alan Roy Kalbermatter                     
Sex: Male
Country: Argentina
Age: 26
Diagnosis: Progressive spinal muscular atrophy (PSMA)
Admission Date: 2012-01-16
Days Admitted to Hospital: 28

About 14 years ago Alan fell while running. His father who is a doctor examined him and found that the patellar tendon reflexes were decreased. He went to the local neurology department and had a muscle biopsy done which showed he had muscle atrophy. The DNA examination revealed spinal muscular atrophy-type 3. He was prescribed Levocarnitine for 3 years, and then stopped taking the medication for 1 year. The muscle strength of both legs gradually decreased so he began taking Levocarnitine again, but little progress was seen. The muscle strength of both legs gradually decreased. There was atrophy in the proximal end of the arms and legs. There was also atrophy in the muscles of the torso area.  Roughly nine years ago, Alan was unable to stand at all and had to remain in a sitting position. Six years ago, Alan felt his upper body strength start to weaken. The muscle atrophy was aggravated. Currently, Alan can walk 150 meters after getting plenty of rest and after some time the rest intervals shorten. He is unable to stand up from a seated position unassisted and has difficulty walking up stairs. When sitting up from a lying position he needs support from both hands. Admission PE: There was obvious muscle atrophy in the proximal-end of all four limbs, shoulder muscles and torso. There was no deformity. There was no scoliosis of the spine. There was excessive lordosis.

Nervous System Examination:
Alan was conscious and alert. His calculation abilities, insight and orientation were normal. His speech was clear. 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. The examination results of the vision and visual field were normal. The neck muscles and the shrugging ability of the shoulders were strong. Left side: the extensor of deltoid and both upper limbs were level 3-, other limbs muscle strength were level 4. The adduction strength of both lower limbs was level 2-, and the abduction strength was level 3-. Crouching position: using the popliteal fossa as a fulcrum, the right leg could be lifted off the bed surface about 10cms. The muscle tone of all four limbs was reduced. The tendon reflexes of all four limbs were not elicited. The abdominal reflexes were not elicited. The bilateral sucking reflex, jaw reflex, palm jaw reflex, Rossolimo's sign and Hoffmann's sign were negative. The bilateral Babinski's sign was negative. The examination results of the sensory system were normal. The patient could finish the finger-to-nose-test, digit opposition test and rapid rotation test almost normally. Alan had difficulty with the heel-knee-shin test. He received an EMG examination and the results showed myopathic damage. DNA: in accordance with spinal muscular atrophy.

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

At present, Alan's condition has improved. The muscle strength of both upper limbs' outreach is level 3+; the flexor muscle strength of both upper limbs is level 4+. The muscle strength of the deltoid muscles is level 5. The grasping power of both hands is level 5. The adduction muscle strength of both lower limbs is level 2-, and the abduction muscle strength of both lower limbs is level 3-. The right leg can be straightened out and raised off the bed surface 1-2cms. Crouching position: using the popliteal fossa as a fulcrum, the right leg can be raised off the bed surface about 20cms.

Alan email to us:

"Hello I am alan Kalbermatter and I am writing to tell you that the progress of the treatment is good and I am improving slowly. The main changes are in the upper limbs where you see the muscles grow. I can walk a little more than before and that makes me very happy.



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