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Spinal muscular atrophy--a clinicopathologic analysis
V V Radhakrishnan1, M D Nair, A Kuruvilla
1Department of Pathology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, Kerala.
Abstract:
In this retrospective study the clinical features in 16 children with spinal muscular atrophy (SMA) were reviewed and classified into three stages. The muscle biopsy specimen were routinely processed with liquid-nitrogen-isopentane and 8 micron thick frozen-sections were studied for histochemical changes. The clinical features in Type III SMA resembled with limb-girdle muscular dystrophy and the muscle biopsy was useful in distinguishing these two entities. It is being evaluated that prenatal diagnosis of SMA is possible with DNA technology developed recently in our country.