As the muscles in the mouth and throat become weaker in babies and children with spinal muscular atrophy (SMA) it leads to issues with swallowing and sucking. If a child experiences sucking problems, they may have issues with poor nutrition and dehydration. Problems with swallowing can be dangerous as the airways…
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While living with a chronic illness can be challenging, there are ways that you can make life easier and live a happy and fulfilling life. Establishing good habits and routines takes time, but as Gunnar Esiason points out in his blog Own It, there are some “common sense…
Documentary filmmaker Gareth Burghes first heard of spinal muscular atrophy (SMA) through his father’s work as a geneticist. He soon became aware of ongoing clinical trials that were studying a breakthrough drug that might change the lives of those who have the disease. As a filmmaker, Burghes knew that he wanted…
Speech-language pathologists (SLPs) or speech-language therapists (SLTs) do much more than help people with speech problems such as stuttering or mispronouncing words. For children and adults with neuromuscular disorders like spinal muscular atrophy (SMA), muscular dystrophy (MD) and amyotrophic lateral…
Why Splicing Is So Important in SMA Treatment
Splicing is the process of removing parts of DNA code. This can occur naturally, resulting in mutated genes which can lead to genetic diseases such as spinal muscular atrophy (SMA). The survival motor neuron gene 1 (SMN1) responsible for SMA has been spliced and is missing an important element: Exon 7.
SMA Explained: 15 Keywords You Should Know
Becoming a parent is always an overwhelming and sometimes daunting experience. This is amplified when you discover that your child has a health condition like spinal muscular atrophy (SMA). Cure SMA has some useful definitions to help parents of newborns with SMA decipher and understand the strange and technical terms they…
Like most young people, our resident SMA columnist Brianna Albers, loves computer games, particularly interactive online games. It was a place where she felt that her spinal muscular atrophy (SMA) didn’t matter, where nobody needed to know about it unless she chose to tell them. It was a safe place…
If you or a family member have recently been diagnosed with spinal muscular atrophy (SMA), one of the first things you’ll do is try to gather as much information about the disease as you can. The Internet is a great place to start, but it’s also vast and complicated — where…
Scoliosis is a common complication in children with spinal muscular atrophy (SMA). Scoliosis is characterized by a curvature of the spine (usually to one side) and is caused by a weakening of the muscles that support the spine as the disease progresses. It is also known as kyphosis. MORE:…
An Australian couple is still reeling from the devastating news that their 12-week-old daughter has spinal muscular atrophy (SMA) type 1. SMA is a rare genetic disease that until Mackenzie’s diagnosis, her parents had never heard of. MORE: Detecting SMA with carrier screening. According to a report in the…
