Child With Progressive Muscle Weakness With Frequent Falls

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Rakesh Kumar, Binay Ranjan, Manjul Vijay Department of Pediatrics, Katihar medical college, Katihar...

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Question
I have a 5 year old child with progressive muscle weakness beginning with frequent falls initially and now not able to walk. This has happened over 2-3 years. No history of convulsions. Mentally he is normal. Non consanguinous marriage. Fits in sma but the genetic study i.e SMN gene and the NAIP gene are normal. can we have sma with these genes normal. sachin d.
Answer
SMN gene is (Survival of Motor Neurons) located on long arm of chromosome 5 (5q). In addition to the SMN gene, a copy of the SMN gene is present on 5q, located centromeric to the SMN gene. SMNt stands for telomeric or SMN1 is mutated to cause SMA. SMNc stands for centromeric or SMN2 may alter severity of SMA. Deletion of exon 7 or 7 & 8 is associated with SMA. 94% of SMA patients have deletion of exon 7 from both of their SMN1 genes. 6% of SMA patients have an exon 7 deletion on one SMN1 gene copy and a small mutation on the second SMN1 copy. Rarely, SMA patients may have non-deletion mutations on both SMN1 gene copies. SMR gene testing is done by PCR. However it has its limitations. It is positive for only 94% of individuals with SMA and 6% of patients with SMA may have normal tests. Back to All Questions

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