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This disease is characterized by generalized muscle weakness and atrophy predominating in proximal limb muscles, and phenotype is classified into four grades of severity (SMA I, SMAII, SMAIII, SMA IV) based on age of onset and motor function achieved. This disease is caused by homozygous mutations of the survival motor neuron 1 (\n                    <jats:italic>SMN1<\/jats:italic>\n                    ) gene, and the diagnostic test demonstrates in most patients the homozygous deletion of the\n                    <jats:italic>SMN1<\/jats:italic>\n                    gene, generally showing the absence of\n                    <jats:italic>SMN1<\/jats:italic>\n                    exon 7. The test achieves up to 95% sensitivity and nearly 100% specificity. Differential diagnosis should be considered with other neuromuscular disorders which are not associated with increased CK manifesting as infantile hypotonia or as limb girdle weakness starting later in life.\n                  <\/jats:p>\n                  <jats:p>Considering the high carrier frequency, carrier testing is requested by siblings of patients or of parents of SMA children and are aimed at gaining information that may help with reproductive planning. Individuals at risk should be tested first and, in case of testing positive, the partner should be then analyzed. It is recommended that in case of a request on carrier testing on siblings of an affected SMA infant, a detailed neurological examination should be done and consideration given doing the direct test to exclude SMA. Prenatal diagnosis should be offered to couples who have previously had a child affected with SMA (recurrence risk 25%). The role of follow-up coordination has to be managed by an expert in neuromuscular disorders and in SMA who is able to plan a multidisciplinary intervention that includes pulmonary, gastroenterology\/nutrition, and orthopedic care. Prognosis depends on the phenotypic severity going from high mortality within the first year for SMA type 1 to no mortality for the chronic and later onset forms.<\/jats:p>","DOI":"10.1186\/1750-1172-6-71","type":"journal-article","created":{"date-parts":[[2011,11,3]],"date-time":"2011-11-03T03:19:56Z","timestamp":1320290396000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":508,"title":["Spinal muscular atrophy"],"prefix":"10.1186","volume":"6","author":[{"given":"Adele","family":"D'Amico","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eugenio","family":"Mercuri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco D","family":"Tiziano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Bertini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2011,11,2]]},"reference":[{"key":"335_CR1","doi-asserted-by":"publisher","first-page":"437","DOI":"10.1007\/BF01776636","volume":"22","author":"G Werdnig","year":"1891","unstructured":"Werdnig G: Zwei fr\u00fchinfantile heredit\u00e4re F\u00e4lle von progressive Muskelatrophie unter dem Bilde der Dystrophie, aber auf neurotischer Grundlage [Two early infantile hereditary cases of progressive muscular atrophy simulating dystrophy, but on a neural basis; in German]. 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