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Spinal muscular atrophy.

INTRODUCTION: DISCUSSION: Spinal muscular atrophy is characterized by degeneration of motor neuron in anterior cells and motor nuclei in brainstem. SMA is of three types and associated with homozygous deletion of survival motor neuron gene in 5q 13. [1,2] The childhood SMA are important cause of mortality and morbidity with incidence of 1 in 6000-10000 live births. [3]

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. [4]

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. [4]

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. [4]

DIAGNOSIS: EMG will show spontaneous discharges (fibrillation, fasciculations) at rest. [5] The serum creatine kinase is usually normal. Deletion in survival motor neuron (SMN1) gene is identified in 92% of all classical SMA patients. [6]

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. [7]

DOI: 10.14260/jemds/2015/1795

BIBLIOGRAPHY:

[1.] Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L; identification and characterization of spinal muscular atrophy determining gene cell 1995;80:155-65.

[2.] Jayesh sheth, Harsh patel, Sanjiv Mehta, Stuti tewan and frenny seth: clinical and molecular characterization of patients with gross hypotonia and impaired lower motor neuron function; Indian pediatr 2013; 50:591-593.

[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.

[5.] Fenichel GM: clinical pediatric neurology; a sign and symptom approach 3rd Ed WB Saunder Pennysylvania 1997:153-204.

[6.] Rodrigues NR, Owen N, Talbot K et al: gene deletion in spinal muscular atrophy J Med Genetics 1996; 33:93-96.

[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)

AUTHORS:

(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.

E-mail: seemadoc98@yahoo.co.uk

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
Words:508
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