Scoliosis in CMT disease
by Dr. Kamal Ibrahim MD, FRCS(C)
Scoliosis is a side to side or lateral curve of the spine. Sometimes this side curve is very slight and can hardly be seen. In more severe cases, however, the spine begins to look like a letter S or a long C. The patient with true scoliosis may appear to slump or lean to one side. This should not be confused with poor posture which corrects easily when the patient simply stands up straight. When a patient with scoliosis stands as straight as possible, the back is still not straight.
In Charcot-Marie-Tooth disease, there is a muscle imbalance due to an inherited condition affecting the nervous system. As a result of this muscle imbalance, scoliosis could develop and continue to progress.
Very little is written in the literature about scoliosis and Charcot-Marie-Tooth disease, therefore this report is a result of review of the literature and my personal experience.
The incidence of scoliosis occurring along with Charcot-Marie-Tooth disease is about 10 per cent. That is to say, out of all patients with CMT only 10 per cent may develop scoliosis. If the scoliosis occurs, it usually starts late in the first decade of life or in teenagers. Half of those patients with scoliosis and CMT will have a small to moderate degree of scoliosis which usually does not progress and will not need any significant treatment while the other half of the patients will have scoliosis which will progress quickly and may end up needing surgical correction. This course of the disease behaves somewhat similar to scoliosis in normal teenagers.
Very little information is available in regard to scoliosis in adults with CMT. From my experience, I believe that it will not occur in adults de nouvelle, but usually it is a progression from adolescent scoliosis which was not treated and continued to progress to a very significant degree.
KYPHOSIS ("Round Back")
If the backward or rounded curve in the upper spine when viewed from the side is too great (round shoulders or humped back, a condition called kyphosis is present. When the inward or forward curve in the lower back is too great the condition is called lordosis (swayback). Many patients with scoliosis have iyphosis and lordosis as well.
Kyphosis or excessive round back, sometimes called Scheuermann's disease, is a common problem. It has to be distinguished from poor posture. It is best seen in the bending test. When the child with kyphosis bends forward there will be a sharp bend or angulation of the back instead of the expected smooth curve.
Children should be checked regularly every year, even by their parents. The child should be asked to stand straight and the observer should look at the child's back to notice any uneven shoulders or one shoulder blade being more prominent, or the space between the body and the arms are unequal, the hips may be uneven one appearing higher or more prominent than the other, or if the child has some difficulty in clothes fitting properly or having to adjust the hem of a skirt or slacks. When a person with mild scoliosis bends at the waist, the sideways curvature of the spine becomes more obvious and would appear as if there is a hump in the back. That is to say one side of the back is higher than the other side. If any of these findings are observed by the parents, then the child should be examined by a physician and X-rays should be taken and repeated every year or more frequently if the scoliosis shows progression and is getting worse.
Treatment modalities in those patients and the result of treatment is again similar to those of normal children who have scoliosis.
If the curve is very mild, then the child should be observed. If he does not show any progression, then no treatment is needed. Exercises have no rule in correcting scoliosis, although back exercises are generally good for the well-being of CMT patients. If the curve shows progression and it is of a moderate degree, then a brace can control the progression until the child matures which is around 14 years for girls and 16 years for boys. Brace treatment is successful to achieve these results about 80 per cent of the time. There are many kinds of braces used for scoliosis, but generally they are divided into two groups, braces which go all the way to the neck and braces which stop under the arm. Each type of brace is used according to the part of the spine that has the scoliosis.
On the other hand if the scoliosis shows sudden and fast progression toward a significant curve above 40 degrees, or if the brace treatment is unsuccessful in controlling the scoliosis, then the advised treatment is surgical correction of the scoliosis with fusion of the part of the spine that is curving.
The technique that is used now for this surgery involves inserting stainless steel rods in each side of the spine, hooked to the spine with multiple hooks. This way the curve can be corrected to a great extent and fused in that position so the scoliosis does not come back. This surgery is now performed with a great degree of safety using a state-of-the-art technique which is known by the name of Cotrel-Dubousset internal fixation. With this new technique patients usually leave the hospital after one week from surgery without any cast, brace or external support with great results and a high success rate. The same techniques of surgery can be used for adults with scoliosis to correct their curve and prevent further deterioration of the spine.
In patients older than 50 years with very severe scoliosis, this surgery might be risky and full of complications. Their symptom, which is usually back pain, can be relieved with a body brace to work as an external support to decrease the range of motion of the back, this way the pain could be relieved.
The complications of untreated, progressive scoliosis occur mainly in late adulthood and are back pain and problems with heart and lung functions.
In summary, scoliosis in CMT should be detected early in children during the first and second decade of life and watched carefully. If it does progress, then treatment should be implied in form of bracing or surgical correction and fusion. For adults who have curves beyond surgical treatment, they can be helped with a body brace, and if they are using a wheelchair, then some scoliosis modification in the back of the chair would be advised to help provide more comfortable seating and prevent excessive back pain so that those patients will be able to deal with daily living activities.
(Dr. Ibrahim is a member of the CMT International Advisory Board and is an orthopedic surgeon specializing in spinal surgery working in Illinois. He is also good with feet and knees.)