Diagnosis of SMA

Dr. Darryl De Vivo discusses the diagnosis of SMA.

The diagnosis of spinal muscular atrophy is relatively easy for physicians who have seen many cases, but it's challenging for people who have seen very few cases or it may be their first case. So sometimes, there is an unfortunate diagnostic odyssey between the presentation of the patient and the final recognition of the diagnosis. It's a lot easier now in 2011 than it was let's say 25 or 50 years ago because in 1995 the gene mutation that causes the disease was discovered. And so now we have a simple test of the DNA that could be carried out on a blood sample for example and we can determine whether there is a mutation and about 95% or more of the children have the same kind of mutation. So the diagnosis is quite easy to make once you consider it within the clinical differential diagnosis. In the case of newborn screening, the patients are clinically normal when they're born, but the blood spot when analyzed tells us that they are risk to develop spinal muscular atrophy in the next month or two months or two years or ten years down the road and such. So again, that's kind of being proactive and intervening before the patient is clinically symptomatic and such.

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