I recently happened to stumble across some information on Kennedys Disease while researching some of my symptoms. I am very curious if KD is what has caused most of my ailments.
I am a 28 years old, female, have been experiencing muscle cramps in my legs for the last few years, prior to that I have had a couple occurrences of muscle cramps, one of which at 16 years old I ended up in the hospital in kidney failure, unknown cause, likely dehydration & rhabdomyolysis. They did a kidney & muscle biopsy that came back inconclusive. I have never had a "normal" CPK test result and get muscle fatigue more quickly than my peers. I have learned not to overexert myself.
Most information says there have been a few cases of females presenting with symptoms, what should my next steps be? DNA testing? Should I discuss with my GP or request a referral to consult with a neurologist?
MissRD, does Kennedy's Disease run in your family (father or mother)?
Even though it is highly unusual for a female to show symptoms early in life, it is always a possibility. The DNA test would be conclusive in regards to KD. After further discussions with your GP, and if both of you still feel strongly about the possibility of KD, your doctor can draw the blood for the DNA test. Testing usually takes 3-6 weeks. If recommended by your doctor, most insurance companies cover most of the cost for the testing.
As always, there are other considerations before deciding upon testing for KD. A genetic counselor can help in this decision making process.
Kennedy's Disease Association
PO Box 1105 Coarsegold CA 93614