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A doctor may first suspect spinal muscular atrophy (SMA) in a young child, when developmental milestones are not met, or when infants display signs of floppiness or decreased muscle tone. When SMA is suspected a paediatrician or paediatric neurologist may order genetic testing, which can help confirm or rule out the disease.1,2
It is often difficult to diagnose spinal muscular atrophy (SMA) based on symptoms alone. Therefore, when a specialist suspects that you might have SMA they will order a genetic blood test that could confirm or rule out their preliminary diagnosis.1
The diagnosis of SMA is based on molecular genetic testing. Genetic testing of SMN1/SMN2 is highly reliable and it is first line investigation when the condition is suspected in a typical case.1
1. Mercuri E, et al. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord 2018;28(2):103-115.
2. Prior TW, Russman BS. Spinal muscular atrophy. NCBI Bookshelf Website. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1352/. Updated November 14, 2013. Accessed April 15, 2016.