Spinal Muscular Atrophy

Spinal Muscualr Atrophy

Many people have never heard about the condition called Spinal Muscular Atrophy or SMA. SMA is not actually one kind of disorder. It is many different disorders that all have common genetic causes. When one has SMA, he or she is weak because of the loss of motor neurons in the spinal cord and in the brain stem.

The Symptoms of Spinal Muscular Atrophy

It is important to know whether or not you may be suffering from SMA and finding out at the soonest possible time is essential. If you have had any of the following symptoms in the past or are experiencing them now, you should have yourself checked by a doctor at the soonest possible time: muscle weakness, limpness or the tendency to hop, difficulty sucking or swallowing, legs are weaker than arms, respiratory tract infections; these are only some of the major symptoms that are telltale signs of SMA.

Diagnosing Spinal Muscular Atrophy

To be really sure that you have SMA, only a doctor can tell you that and a proper diagnosis will likely highlight the aforementioned symptoms plus other minor signs that only the doctor will know about. A gene test will be given to you as well. This is known as an SMN (Survival Motor Neuron) gene test and it helps doctors to determine if there is at least one copy of the SMN1 gene by looking for its sequences which are unique. For situations where the SMN gene test doesn’t work, there is an EMG (electromyography) test that can be taken.

Treating Spinal Muscular Atrophy

SMA can be treated and there are tests where gene replacement is being considered. This option is not something that is widely used yet and still needs many years of study before it can be considered as viable treatment for SMA. Since SMA is directly related to severe weakness, it is that which should be addressed. Children with SMA typically live longer than infants that have it and they will need extensive medical support to live comfortably. Current patients with SMA can be treated in various ways. Since most problems are respiratory and nutritional, those are the things that doctors concentrate on the most. There are no drugs in the market that can cure SMA directly but there are significant studies that have been developed to effectively treatment SMA. Until a solution is found, patients will have to settle for different therapies and temporary medications that can help them live a comfortable and normal a life as possible. Some of the drugs that are proving to be quite effective but are still under close scrutiny are Butyrates, Valproic Acid and Riluzole.

SMA is a condition that is very serious especially in the case of infants and children. It is most rampant in children but there are also some adults who have it or have lived with it since childhood. This shows that there are also different degrees of severity of the disease and how fatal it is depends on how strong it is to begin with. Nevertheless, doctors are constantly searching for a cure.