Spinal muscular atrophy (SMA)
Overview
Spinal muscular atrophy (SMA) is a rare genetic condition that can cause muscle weakness. It gets worse over time, but there are medicines and other treatments to help manage the symptoms.
Symptoms
The symptoms of spinal muscular atrophy (SMA) affect everyone differently, but can include: muscle weakness – such as floppy or weak arms and legsmovement problems – such as difficulty sitting up, crawling or walkingproblems with breathing or swallowingtwitching or shaking muscles (tremors)bone and joint problems – such as an unusually curved spine (scoliosis) These symptoms are most often noticed in babies and toddlers, but they can also start in teenagers and adults. SMA does not affect intelligence or cause learning disabilities.
Causes
Most types of spinal muscular atrophy (SMA) are caused by an altered gene called SMN1 being passed on to a child by their parents (inherited). The parents do not usually have SMA themselves, which is known as "carrying" the gene. In most cases, SMA can only be passed on if both parents carry the altered gene. If both parents carry the altered gene, there's a: 1 in 4 (25%) chance their child will have SMA2 in 4 (50%) chance their child will carry the altered gene, but will not have SMA1 in 4 (25%) chance their child will not carry the altered gene or have SMA The chances of a child inheriting SMA can be different for some rarer types of SMA. Some rarer types are not passed on at all.
Treatment
There is currently no cure for spinal muscular atrophy (SMA), but there are treatments and support available to help people with SMA have the best possible quality of life. A range of health professionals may be involved in your or your child's care. They'll help to create a care plan and advise you about which treatments are suitable for your specific needs. The main treatment for SMA is medicines that target the altered genes that cause SMA, including: nusinersen (Spinraza)risdiplam (Evrysdi)onasemnogene abeparvovec (Zolgensma) It's not always possible to have medicines to help treat SMA. The most suitable treatments will depend on your or your child's age and symptoms. Your care team will be able to discuss the risks and benefits of any possible treatments. Research is continuing into possible new treatments for SMA. Treatment and support is also available for the symptoms of SMA. Every person's needs will be different depending on their symptoms. Support you or your child might need may include: physiotherapy, exercises and stretches to help maintain strength and stop joints becoming stiffmobility equipment(including walking frames and wheelchairs), supports for the arms or legs (splints or braces) or shoe inserts that make walking easier (orthotics)help with breathing problems, such as breathing exercises or machines that help clear mucus from the airways or provide air through a maskhelp with swallowing problems, such as making diet changes or using a feeding tube that's passed down the nose or attached directly through the tummya back brace or surgery to help with spine problems People with SMA are also usually advised to have theflu vaccineandpneumococcal vaccine.