Is it worth the expense and hassle to undertake new testing to confirm or refute an earlier diagnosis?
Yes — and no. In some cases, there are clear advantages to positively confirming your diagnosis; in other cases it won’t make any difference at all. The advantages are found in identifying inheritance patterns, gaining knowledge about the course of the disease and being able to participate in ongoing research. Different neuromuscular diseases have different inheritance patterns; even within a single disease, such as Charcot-Marie-Tooth disease (CMT), there are genetic variations, says Karen Krajewski, certified genetic counselor and assistant professor of neurology at Wayne State University in Detroit. If you have a disease with several genetic variations, and if you’re hoping to participate in clinical research trials, a precise genetic diagnosis is essential. Knowing the exact mutation allows you to participate in clinical trials aimed at that form of the disease. Knowing exactly what you have also can be informative when you’re planning for parenthood. Rob Roozeboom of Sheldon, Iowa
