Spinal muscular atrophy.
SMA is classified into three types; in type 1 severe generalized hypotonia is present. Muscle mass is thin. Deep tendon stretch muscle reflexes are absent. Patients with type 1 SMA presents in first 6 month of life. More than 65% die by 2 years. 
Type 2 characterized by progressive weakness of muscles. Patients with this type are able to suck, swallow in early infancy, confined to wheelchair by school years. 
Type 3 is mildest form of SMA shows progressive weakness proximal in distribution involving shoulder girdle. Patient are ambulatory. Longevity can extend well into middle adult life. 
DIAGNOSIS: EMG will show spontaneous discharges (fibrillation, fasciculations) at rest.  The serum creatine kinase is usually normal. Deletion in survival motor neuron (SMN1) gene is identified in 92% of all classical SMA patients. 
TREATMENT: No medical treatment is able to delay the progression. Valproic acid can be given as it increases SMN 2 protein and sodium butyrate may slow the progression but do not alter the course of disease in all patients. 
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[3.] Peam JH; classification of spinal muscular atrophy, Lancet 1980; 1: 919-922.
[4.] Radhakrishnan VV, Nair MD, Kuruvilla A, Anandan R: spinal muscular atrophy a clinic pathological analysis. 1997 Sep-Oct; 64(5):687-91.
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[7.] Chang JG, Hsieh-li HM, Jongs yJ et al: treatment of spinal muscular atrophy by sodium butyrate Proc Natl Acad Sci 2001; 98: 9808-9813.
Seema Rai (1), Santosh Bhalke (2), Rita Hajela (3)
(1.) Seema Rai
(2.) Santosh Bhalke
(3.) Rita Hajela
PARTICULARS OF CONTRIBUTORS:
(1.) Assistant Professor, Department of Pediatrics, Maharishi Markandeshwar University and Hospital, Solan.
(2.) Professor, Department of Pediatrics, Maharishi Markandeshwar University and Hospital, Solan.
(3.) Assistant Professor, Department of Pediatrics, Maharishi Markandeshwar University and Hospital, Solan.
FINANCIAL OR OTHER COMPETING INTERESTS: None
NAME ADDRESS EMAIL ID OF THE CORRESPONDING AUTHOR:
Dr. Seema Rai, Dev Bhoomi Green Valley D-15, Deonghat Solan-173212, Himachal Pradesh.
Date of Submission: 16/08/2015.
Date of Peer Review: 17/08/2015.
Date of Acceptance: 29/08/2015.
Date of Publishing: 03/09/2015.
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|Title Annotation:||CASE REPORT|
|Author:||Rai, Seema; Bhalke, Santosh; Hajela, Rita|
|Publication:||Journal of Evolution of Medical and Dental Sciences|
|Date:||Sep 3, 2015|
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