Children are often the most vulnerable age group when it comes to medical conditions and life-threatening situations. Some children are born with a medical condition at birth which is usually known as a congenital birth defect. While some children might be born with a medical condition, sometimes they can appear on a child who is seemingly healthy and normal. It can often be hard to diagnose a child with a medical condition when they are young because often they can not communicate exactly how they feel or what is bothering them. When a rare medical condition appears in a child it is very difficult to find the right diagnosis because so many other common medical problems could be the cause. One rare medical condition that we see in children is called spinal muscular atrophy, and this can lead to life-long ailments.
Spinal muscular atrophy is a rare and degenerative medical condition seen in children that affects both the spinal cord and the nerves. Muscular atrophy is a medical term which means weakness and loss of muscle, essentially the muscle wastes away in the body. Spinal muscular atrophy is an autosomal recessive gene which means that both the male and female child population is vulnerable to this disease. Two copies of the gene are needed to produce spinal muscular atrophy, one from the mother and one from the father. There is a lot we know about spinal muscular atrophy, including that usually a survival motor neuron gene is to blame for the disease. The survival motor neuron gene usually is abnormal either by a gene being deleted or by an extra copy being made. Usually there is no test to determine whether or not a parent is a carrier of spinal muscular atrophy, unless there is a case in the family already. You can get tested through your DNA provided in a blood sample if you think you have the symptoms of spinal muscular atrophy.
Symptoms of spinal muscular atrophy are hard to diagnose because they are so characteristic of other common medical conditions. Since spinal muscular atrophy is a rare medical condition mostly afflicting children, all other common problems need to be ruled out first. The symptoms also might present itself in different ways depending on the child; two children might not experience the same set of symptoms. There are four different types of spinal muscular atrophy and they are based on when the symptoms occur during childhood.
Type one is often called Werdnig-Hoffman and it is the most severe type of spinal muscular atrophy. Type one is often present at birth and will show a variety of symptoms in an infant including having problems holding their head up and very little movement. Difficulty in sucking, feeding, swallowing and other muscle functions are also signs that can show up on a baby at birth or during infancy. The tongue will often have movements described as “worm like” and there will be breathing problems associated with it. Once the baby has difficulty breathing, it is likely that the baby will die by the time they are six years old. Type one will usually become fatal due to breathing complications that occur in the small infant.
Type two is an intermediate form of spinal muscular atrophy and affects children from seven months old to 18 months old. The most common symptom is general muscle weakness which can hinder walking and crawling or playing. The small child might be in a wheelchair or need assistance trying to walk due to the muscles being weak and getting worse as time goes by. Someone who has type two spinal muscular atrophy is likely to have a shortened life-expectancy and will only live until about 30 years old.
Type three is also known as Wohlfart-Kugelberg-Welander syndrome affects children older than 18 months. The children affected with type three will often show abnormal clumsy behavior. It is normal for any small child learning how to walk to be clumsy, but this is a more typical behavior and you will see it constantly. The muscles are weak which is why the child is clumsy and they will often be mentally slower than other children their age. Type three is not a life-threatening type of spinal muscular atrophy, as children with this type often live far into their adult years.
Type four is actually a form of spinal muscular atrophy that affects the adult population and is not very serious. An adult who has spinal muscular atrophy type four will have a walking problem and will probably use a walker or cane. Type four is not life-threatening since it only presents itself with muscle atrophy in the legs. Walking will become difficult for someone between 30 years old and 40 years old and often becomes the tool for diagnosis. An adult who gets type four will not have a shorter life or any other major health problems besides the difficulty walking and can live a mostly normal life. So many of these symptoms can be related to other medical conditions and it is important get to a doctor so they can perform testing to confirm the diagnosis.
The doctor will probably perform a variety of diagnostic tests to show a confirmed case of spinal muscular atrophy. Some of these diagnostic tests include blood tests, muscle biopsy, genetic tests and an electromyogram. A muscle biopsy is where a tiny sample of your muscle is removed and examined microscopically to determine the existence of a condition. When genetic testing is done this will help determine what your likelihood is of getting specific medical conditions based on your family history. An electromyogram is a test that measures the electrical activity produced by a muscle or group of muscles in the body. This test can determine whether or not there is an abnormality in that specific muscle region which can be caused by a condition such as spinal muscular atrophy. Confirming the presence of spinal muscular atrophy will only better the treatment options available to your child.
There are no cures for spinal muscular atrophy, so the best thing for your child is treatment of the symptoms. Specific treatment options are dependent upon a number of issues including your child’s age, health and medical history. The extent of the spinal muscular atrophy and the type is also important to take into consideration when planning treatment. How your child tolerates medications and medical intervention is considered as well as the course the condition is expected to travel. The main determination for treatment of your child’s spinal muscular atrophy comes down to you. Since you are the parent you have the final say in what medical treatments will be used on your child to treat the spinal muscular atrophy. The only way to manage spinal muscular atrophy is to catch it early enough where medical intervention will be beneficial. The main goals of treatment for your child are to prevent a respiratory problem and getting them good nutritional consultation. Since breathing and swallowing are two areas greatly affected by spinal muscular atrophy, these will be muscles and areas of concern for the doctor. Treatment will last often well into adulthood if not for life depending on the severity and effects of the spinal muscular atrophy. There are more severe cases that require breathing machines and equipment even after the child has left the hospital. A child who has spinal muscular atrophy will require treatment and evaluations throughout their life to measure the progression of the disease. A child can live a normal and healthy life if treatment is working and if the spinal muscular atrophy has not progressed. The outcome and progression of the disease really just depends upon so many different factors. This information in no way substitutes real medical advice and if you think your child has spinal muscular atrophy, then you should get them to a medical professional immediately.
National Institute of Health Staff, “Spinal Muscular Atrophy”, National Institute of Health
Bryan Tsao, MD, “Spinal Muscular Atrophy”, E-Medicine Web MD
Lucile Packard Children’s Hospital Staff, “Spinal Muscluar Atrophy”, Lucile Packard Children’s Hospital