Gene therapy targets the genetic root cause of spinal muscular atrophy, or SMA, by replacing the function of the nonworking or missing gene that causes SMA, called the survival motor neuron 1 gene, or SMN1 gene. As this happens, the child’s brain is unable to control the body's voluntary muscles, especially those in the arms and legs and in the head and neck. Spinal muscular atrophy (SMA) is the second leading cause of neuromuscular disease. Symptoms include muscle weakness and twitching, a lack of ability to move the limbs, difficulty feeding, and, in time, a curvature of the spine. The SMN1 gene is very important because it’s the body’s main source for making SMN protein. How much of the electrical impulse reaches the nerve is recorded, as well as how fast the signals move. The symptoms of SMA depend on its type and severity, as well as the age at which it develops. One in every 40 people carries the gene that causes SMA. A person can only have SMA if both of their parents have a problem with this gene. A child of two gene carriers has a 25 percent chance of being born with spinal muscular atrophy. It is characterised by degeneration of alpha motor neurons in the spinal cord that affects the control of voluntary muscle movement. All rights reserved. The test will also help your doctor see if nerves have been damaged. Advertising on our site helps support our mission. Some states recommend routine genetic screening for SMA at birth. Spinal muscular atrophies. Spinal muscular atrophy is a hereditary disease that destroys lower motor neurons nerve-cells in the brain stem and spinal cord. Then, the electrical activity of the muscles is measured. Tips to Help You Think Clearly, Delay in normal milestones like holding up their head, rolling over, sitting up, standing, or walking. Eventually, it can become hard…, © 2004-2020 Healthline Media UK Ltd, Brighton, UK, a Red Ventures Company. They vary in terms of when symptoms start to appear and how they affect life expectancy and the quality of life. In: Amato AA, Russell JA. People of any race or gender can be affected by spinal muscular atrophy. Spinal Muscular Atrophy (SMA) is a genetic condition under the scope of the neuromuscular disorders and Motor Neurone Disease MND. A person’s outlook will depend on the severity of the symptoms. Exam and family history. In: Darras BT, Jones HR, et al, editors. Amsterdam: Academic Press, an imprint of Elsevier; 2014: Chap 8. There are four different types of spinal muscular atrophy. Most people will continue to be able to walk, but they may have an unusual gait and experience difficulty running, climbing steps, or rising from a chair. If the results of the genetic testing aren’t clear, you'll have different tests to find out what's going on. There is no cure for this muscular atrophy. At birth, infants with SMA type 1 have weak muscles, minimal muscle tone, and feeding and breathing problems. You might get this along with an EMG. The classification is determined by the developmental milestones the child has hit by the time of the disease onset. It can be difficult for a person with SMA to stand, walk, control their head movements, and even, in some cases, breathe and swallow. It's a rare illness that is passed down in families. A simple blood test can check for SMA. This affects movements such as walking, crawling, head and neck control, swallowing, and breathing. Electrodes are placed on the skin over a nerve, and then a small electric shock is sent through the area. © 2005 - 2019 WebMD LLC. This test measures how well muscles are working. It is a one of the most common genetic conditions affecting children. This drug can treat all types of SMA. The weakness tends to affect the muscles that are closer to the center of the body. SMA happens when motor neurons in the spinal cord and the brain stem either do not work or stop working because of changes in genes known as survival motor neuron 1 (SMN1) and SMN2. A doctor may detect SMA type 1 before birth, as tests may show low levels of fetal movement during the final months of pregnancy. Thin needles are inserted into a muscle or group of muscles. Symptoms of primary progressive multiple sclerosis (PPMS) become gradually more severe, often without remission. Any medical information published on this website is not intended as a substitute for informed medical advice and you should not take any action before consulting with a healthcare professional, National Institute of Neurological Disorders and Stroke. It is not possible to prevent SMA, but medication, physical therapy, and other strategies can help a person live a full and active life. Complications include a higher risk of respiratory infections. Additionally. It is a neurological condition and a type of motor neuron disease. Spinal muscular atrophy is a disease that is usually seen in babies and children.