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Diagnosis of spinal muscular atrophy disease

The doctor’s examine the disease of external symptoms of the disease and the disease history of the sequence. The main symptoms are loosening and weakness of muscles of the tongue and vibration. And assisted the doctors with some medical tests and that is in the planning muscle (Electrograph) and planning nerve (nerve fibers) Nerve Conduction Velocity with other examinations to make sure not to and there are other diseases similar to him as a measure enzyme muscle (CPK) in the case of muscle diseases. http://www.somanabolicmusclemaximizereviewscam.com/tag/kyle-leon-
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In the past The doctors rely on a sample of muscle for the definitive diagnosis of the disease, but and with the availability of genetic analysis (analysis of the SMN gene) Say dramatically this analysis and being in positions where there is no such analysis or in cases where there have results of the analysis of sound while doctors have convinced in the incidence of this disease. When conducting genetic screening, more than 95% (95-98% exactly) of people diagnosed with spinal muscular atrophy have a shortage of both versions SMN gene number one and that came from the father and the mother. While 5% (exactly 2-5%) in their hand, the lack of one of the two versions and the other version where the change in the DNA sequence of any (Point Mutation) and no shortage, and in all cases resulting from the lack of gene MSN shortfall in part Exxon 7 and 8 and so the laboratory to be tested when Jane MSN number one scan. If you were not present, they make sure the disease.

But not having a shortage and does not necessarily mean lack of injury and to some technical problems that may go on talking about it. In the case of change in the DNA sequence which it disclosed by examining the entire gene sequence and knowledge (Sequence analysis) and different “type” and the severity of the disease as “the total number of” Jane number two “.

The number two (continued reading to you in order to clear this issue, and does not depend on the analysis of “deficiency” gene and not even the sequence of DNA which to detect a person’s non-infected to see whether the “holder” of the disease or not it needs to be another way you know (SMN gene dosage analysis), which relies on PCBs R (PCR-based dosage assay). Or bonding method is used (Linkage analysis).

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