From 1 June 2022, newborns in the Netherlands will also be tested for spinal muscular atrophy via the heel prick (SMA Spinal Muscular Atrophy). SMA is a serious, hereditary muscle disease. By detecting the disease early, treatment can start quickly. This prevents irreparable damage to the health of the child– reports the National Institute for Public Health and the Environment (RIVM).
SMA is a serious, hereditary muscle disease. Every year 15 to 20 children are born with the disease SMA in the Netherlands. Children with SMA become paralyzed and can die from it. Symptoms usually start at a young age. The severity of the disease varies from child to child. By detecting SMA early, treatment can start within a few weeks of birth. This prevents irreparable damage and serious suffering. The treatment of SMA takes place in the SMA Expertise Center, part of the UMC University Medical Center Utrecht.
The Netherlands is one of the first countries or regions in Europe to screen newborns for SMA. At the moment it is happening in Norway, Germany and Wallonia (Belgium). Trials are underway in other countries. The Health Council has appointed the Ministry of VWS Ministry of Health, Welfare and Sport advised to add SMA to the heel prick screening; VWS has adopted this advice. The Dutch heel prick screening has been successful in detecting serious, treatable diseases in newborns for many years. SMA is the first muscle disease in the heel prick screening. Including SMA, the number of diseases that the heel prick tests for is 26. This number will be further expanded.
Spinal muscle atrophy (SMA) is a rare neuromuscular disorder that results in the loss of motor neurons and progressive muscle atrophy. It is usually diagnosed in infancy or early childhood and, if left untreated, is the most common genetic cause of infant death. It can also occur later in life and then have a milder course of the disease. The common feature is progressive weakness of voluntary muscles, with arm, leg and respiratory muscles being affected first. Associated problems may include poor head control, difficulty swallowing, scoliosis, and joint contractures.
From heel prick of Guthrie-test is a screening test that is used, among other places, in Belgium and the Netherlands to newborn To test. The test was developed by Robert Guthrie in America. In the Netherlands, the test is officially called “neonatal screening newborns”. The program in the Netherlands is successful, more than 99% of all parents of newborns participated in 2005. In Flanders, it is recommended to prick the hand instead of the heel because it would be less painful.