Your Scoliosis and Mine: Genetic, Congenital, Other ?

[Guest guest]

Recently we have had some posts discussing different types of scoliosis and their possible causes. I'd like to try and clear up some of the understandable confusion aurrounding this subject.

Most of us in this group -- like the vast majority of all individuals with severe scoliosis requiring surgical intervention-- have the kind of scoliosis that is referred to as adolescent idiopathic scoliosis. "Idiopathic" means "cause unknown." There is research under way to learn more about the genetics of this disorder, i.e., to what extent it runs in families. There is no doubt that quite a few scoliotic moms have scoliotic daughters -- and, occasionally, sons with scoliosis severe enough to require treatment -- but no one has established (to my knowledge) the exact genetics of transmission. Apart from the genetic research that has been going on for some years at s Hopkins, a few years ago Medtronic (the major medical equipment manufacturer, which makes spinal devices as well as cardiac pacemakers, morphine pumps, etc.) began funding another research project relying heavily on the resources of the Church of Jesus Christ of Latter-Day Saints, which maintains a mammoth archive of genetic records in Salt Lake City, Utah. The time seems ripe for such research now that the human genome has been mapped in its entirety, although it's too bad so much of the funding before now went for spinal-surgery research, with relatively few resources allocated to studying the cause(s) of scoliosis. I expect most of us would agree that it would be better to learn how we might prevent new cases than to continue simply diagnosing these cases and subjecting the afflicted to the drastic corrective surgeries most of us have undergone.

Sharon's scoliosis is remarkable in that it is congenital and is thus, by definition, one of the few types of scoliosis for which we do know something about the etiology. In a case like Sharon's, birth defects have caused abnormal spinal segmentation or formation, leading to asymetrical development of the spine (as well as giving rise to a diverse group of additional problems which vary from person to person but which may include certain difficulties with the kidneys or the heart). This kind of scoliosis is quite unusual.

Here I want to interject a very important note: "Congenital" does not necessarily mean "genetic"; it simply means "present at birth."

Adding to the confusion, very young children can, alternatively, have so-called "infantile idiopathic scoliosis." This is very rare, however, and is also very distinct from other types of idiopathic (cause-unknown) scoliosis. By definition, it presents before age three.

Then we have juvenile idiopathic, presenting between ages 3 and 10 -- quite possibly the same as adolescent idiopathic, but simply apparent at a younger age. My own scoliosis is considered adolescent idiopathic, but might more appropriately be termed juvenile idiopathic. It was diagnosed when I was 12, at which time the doctors pulled earlier chest x-rays and learned that I had already shown some scoliosis on a pre-op film before my tonsillectomy at age 10.

Adult idiopathic scoliosis is yet another category of cause-unknwn scoliosis, manifesting as curve progression after physical maturity --again, probably a continuation of the adolescent idiopathic type.

The one type of scoliosis I have described so far which is not idiopathic is congenital scoliosis. But there are two other types of scoliosis, in addition to the congenital, which are not idiopathic. What I mean by calling these "not idiopathic" is that we actually know what causes them:

(1) Neuromuscular scoliosis is the result of a neuromuscular disease -- most commonly cerebral palsy nowadays. In my own youth, however, when some of us did not receive the earliest polio vaccine (the Salk) till age six or later, I met more than one fellow-patient who had neuromuscular scoliosis arising from poliomyelitis. In fact, this type of scoliosis was the reason why Dr. Harrington developed the Harrington rod: Patients with polio-induced scoliosis were not able to withstand the kind of fusion we "idiopathic" types were having back then, that is, uninstrumented fusions which provided the basis for external corrective devices such as extensive plaster casts (e.g., the good ole Risser jacket so many of us lived in for months or years). When internal hardware was incorporated in the fusion, these patients could also have spinal fusions. As I''ve mentioned here before, when I had my first fusion in 1962, the doctors at Walter told me regretfully that there was a wonderful new invention available for scoliosis treatment, the Harrington rod, but it was no yet available to people like me whose scolisois was idiopathic -- only to those whose scoliosis had resulted from infection with the polio virus. (Of course I did get my Harrington rod eventually, in 1986 -- and then I got flatback syndrome, and started this group for fellow flatbackers, and the rest, as they say, is history . . . )

(2) Degenerative scoliosis develops for the first time in adult life, in connection with such processes as deterioration of disk tissue or arthritic damage to the spine. It is often associated with osteoporosis which, as we know, is most common in women -- hence the time-honored literary reference to a person with a "dowager's hump." Since those of us with idiopathic scoliosis are also likely to experience degenerative changes and deterioration in our curvatures, it is important, at least diagnostically, to distinguish degenerative from idiopathic scoliosis in older patients. The denerative type is diagnosed only in a person with no previous history of abnormal spinal curvature.