5 FAQs About SMA
Spinal muscular atrophy affects around 1 in 10,000 newborns. Here are five frequently asked questions about the condition according to Cure SMA:
Spinal muscular atrophy (SMA) is a genetic disease that affects mostly children but comes in different forms. The severe neuromuscular disease affects a person’s ability to participate in daily life functions, like walking, eating, or even breathing.
Infants and toddlers either delay or fail to meet important developmental milestones. Muscle loss is often one of the first observed symptoms of severe SMA.
Type 1: The most common and also the most severe type of SMA accounts for 60 percent of cases and is generally diagnosed with the first six months of a child’s life. Children with type I SMA will have very limited movement and may be unable to swallow or breathe without assistance.
Type 2: Usually diagnosed from six-months-old to two years old. Children with type 2 will usually be able to sit up unaided but will be unable to walk.
Type 3: Less severe although the range of movement diminishes over time.
Type 4: Very rare and affects adults. Symptoms usually appear after the age of 35.
Genetic testing is the only way to diagnose a child with SMA because many of the early symptoms could be confused with other similar conditions.
Spinal muscular atrophy is a genetic disease of which both parents of the child must carry the faulty gene. Approximately 1 in 50 people are carriers of the faulty SMN2 gene.
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