Newborn screening for SMA in Southern Belgium


Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder that is characterized by the degeneration of motor neurons in the spinal cord and muscle atrophy. The spectrum of the SMA phenotype is stratified into five types depending on the age of onset, which can range from before birth to young adulthood. Motor neuron loss often results in severe muscle weakness, causing affected infants to die before 2 years of age (type 0 with neonatal onset, or type 1 in approximately 50% of all cases).


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