Spinal Muscular Atrophy - Pediatric Oncall

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ISSN 0973 - 0958

Childhood Ailments

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Question
My sister's daughter was born on 11th August. After 1.5 month her leg & hand movement slowed down. Her EMG is normal. But DNA test report is : DNA of the affected child showed a deletion in Exon-7 of SMN Gene, which is deleted in 95% of SMA patient(Spinal Muscular Atrophy). This confirms the diagnosing SMA in the child. Please advice me for further treatment what should I do. Please reply soon.
Answer
Spinal muscular atrophy (SMA) is a congenital birth defect characterized by degeneration of the cells of the spinal cord supplying the muscles causing weakness. Most causes are genetic. The clinical features may vary. The incidence is approximately 1:25,000 for SMA in general, with some forms more common than others. There are three main types of SMA occurring in childhood, conventionally divided by age of onset. Acute Infantile SMA is the most severe form. Symptoms may be present in uterus with decreased fetal movement. Affected infants are hypotonic and paralytic. Tongue fasciculation may be seen. Mentally these children are normal. Death usually occurs in the first year of life due to aspiration and pneumonia. Chronic Infantile SMA is an intermediate form of the disease. Age of onset is after three months of age. As the name suggests, it is slow to progress during infancy and childhood. Weakness is usually symmetric. Affected individuals live to a mean age of 30 years. There is no specific treatment for SMA, other than physical therapy to maximize function and prevent contractures. Back to All Questions

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