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Spinal muscular atrophy is usually diagnosed through a blood test to check for the presence of the SMN1 gene (genetic testing). These cells communicate with your voluntary muscles - the ones you can control, like in your arms and legs. SMA is a very complex disorder, and there are three common types of SMA affecting children. Spinal Muscular Atrophy with Respiratory Distress (SMARD) is a rare form of SMA caused by defects in theIGHMBP2 gene. ", Muscular Dystrophy UK: "Developing a genetic therapy for spinal muscular atrophy. Your doctor will order this test if he or she suspects that your child might … Does your child have trouble sitting or standing on their own? In a healthy person, this … Your child will most likely be able to stand or walk without help but may have problems running, climbing stairs, or getting up from a chair. Some types cause more serious problems than others. Later in life, they may need a wheelchair to get around. Spinal muscular atrophy (SMA) is a group of genetic diseases that cause weakness and wasting in the voluntary muscles of infants and children and, more rarely, in adults. Parents who carry just one copy of the defective gene usually do not exhibit any symptoms of spinal muscular … What is spinal muscular atrophy? It is a one of the most common genetic conditions affecting children. Both are forms of gene therapy that affect the genes involved in SMA. You can opt out of the register at any time. There are four types of SMA. Spinal muscular atrophy (SMA) is primarily characterized by progressive muscle weakness and atrophy. Your doctor could also order a blood test that checks for creatine kinase (CK). Starting treatment early is important. Spinal Muscular Atrophy. If you or someone in your family has SMA, and you live in the UK, you have come to the right place for support and information about the condition and the latest developments with new treatments. It's … Continued Spinal Muscular Atrophy Outlook. Without it, the cells that control muscles die. This affects children 6-18 months old. If your child has type 1, a severe form of SMA, they may start having symptoms anywhere from birth to age 6 months. Your child may be able to sit and walk or stand with help. Besides gene therapy, your doctor may suggest a few other ways to help manage symptoms: There's a lot you can do as a family to help your child with some of the basic tasks of daily life. If your child gets a faulty gene from just one of you, they won't get SMA but will be a carrier of the disease. It is the number one genetic cause of death for infants. Spinal muscular atrophy is a disease that is usually seen in babies and children. Type 3. Type 4. Menu Spinal muscular atrophy (SMA) is a group of hereditary diseases that progressively destroys motor neurons—nerve cells in the brain stem and spinal cord that control essential skeletal muscle activity such as speaking, walking, breathing, and swallowing, leading to muscle weakness and atrophy… There is no cure for this muscular atrophy. The SMN1 and SMN2 genes give your body instructions for making a protein that helps with controlling muscle movement. SMA type 0 (the prenatal form) is the most severe form and begins before birth. ", New England Journal of Medicine: "Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy. There are different types of SMA, and how serious it is depends on which type your child has. What is spinal muscular atrophy? This means that (most of the time) both parents must carry the genetic mutation for a child to have the condition. Despite knowledge of the pathogenic role of decreased survival motor neuron (SMN) protein levels, efforts to increase SMN have not resulted in a … Sign Up to Receive Our Free Coroanvirus Newsletter, Caring for Your Child With Spinal Muscular Atrophy, Pompe Disease: Learn the Details About This Rare Disorder. WebMD does not provide medical advice, diagnosis or treatment. You may have symptoms such as muscle weakness, twitching, or breathing problems. Health information. Spinal muscular atrophy (SMA) is a genetic disease affecting the central nervous system, peripheral nervous system, and voluntary muscle movement (skeletal muscle). It is caused by a loss of specialized nerve cells, called motor neurons that control muscle movement. Your child will probably need lifelong care from different types of doctors. It's a serious condition that gets worse over time, but there are treatments to help manage the symptoms. All rights reserved. It's the mildest form of the disease. 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