I just joined KDA and am still looking around the site. I am not an MD, I am PhD in chemical engineering/physical chemistry + more recently economics / international trade. I have career experience in doing and managing scientific / technical research.

I was diagnosed based on EDX by two neurologists as having primary sensory peripheral neuropathy one in SE Asia and other at St. Lukes/Houston Medical Complex. Specifically symmetric distal focused chronic axonal polyneuropathy.

Recently I moved to Seoul, Rep Korea and followed up to look at progression of sensory loss in the feet. I am 59 years old. Within 5 seconds facing the doctor he said I had a twitch on my chin. My wife said that she has never seen this twitching before or after the visit and she is now triggered to look at this all the time.

I do not have any other usual symptoms of SBMA - no weakness or wasting "anywhere", no shoulder or pelvic girdle weakness/wasting, no bulbar symptoms, no angdrogen symptoms. I do 1 hour daily cardio, squats, benchpress, climb mountains, etc. I do not have any weakness or wasting, androgen signs (gynomastica, other), twitching . My physical / muscle condition is really outstanding (honest). The complete EMB/NCV/NEE workup indicates distal focused symmetric chronic axonal polyneuropathy. However genetic testing of blood protein CAG repeat scored 40 which is pathological, whereas normal is <35 borderline 35-38.

During ~ the past month I have researched the medical literature - there is a WEALTH of review and clinical work available a lot of it free (some I paid for) using Pubmed, and Medline, in JNNP, Brain(Oxford), Neurology, BMJ, Science, Nature, Human Molecular Genetics, J Appl Genetics, Arch Neurology AMA, etc. etc., the number of top names in neurology + genetic is I guess 15-20 ... note - this is not to mean that I suggest that a lot of hospitals do not have very good neurology departments and staffs… my interest is in the neurology literature on peripheral neuropathy + SBMA, e.g., clinical SBMA (WR Kennedy, Gen Sobue, Anne Sperfield, other), polyneuropathy (RAC Hughes, + Gen Sobue + many) genetic - Albert La Spada, MJ McPhaul + other), SBMA electrodiagnostic related (Olney-Aminoff-So, Ferrante-Wilbourne), sensory involvement in SBMA (number of clinical studies including Gen Sobue). So - to get to the point, I am unclear on a number of things anyone can give some help.

1) I told doctor that concluding SBMA from tests is clear but 40 is a low number compared to most of the clinical studies of patients, 45, 50 up to 70 etc. I am looking for reference to clinical studies of the number of alleles vs. severity of symptoms. Sobue study showed onset and severity is anticipated by the triplet repeat but not clear on relatively low but positive level of allele penetration (above threshhold mutation). Other studies are unclear.

2) I kindly asked this neurologist - if we do not complete other defining tests of CIAP are we not risking a false positive on the symptom causation, i.e., we have not tested for other causes of chronic sensory neuropathy (something like 30% of CIAP are idiopathic) then we will not look at some basic things usually examined for peripheral neuropathy such as CSF protein, specific immune serum antibodies etc., vitamin uptake irregularity, etc.... pretty basic stuff (I am not diabetic and I do not have auto immune disease syndrome). After the positive DNA test for KD-SBMA the neurologist position was we found positive cause and there is no further action since there is no cure (he said that no follow up was needed and I should accept my becoming older like all other people..

3) given that there is no clinical evidence of sensory only involvement of KD and my symptoms are only sensory - this is not a simple matter and I just want to look a little more deeply to see if we can better

4) I still have option of following up with neuro consultation in the US (family is in Seattle and Columbus)

I would really appreciate seeing any comments and seeing whether anyone else has similar experience.

I read this with fascination because I have nearly 90% of KD symptoms (listed some of the other posts) and I'm having difficulty getting the genetic test evaluated. So it makes me wonder if there are parallel etiologies going on. KD is complicated and when inexperienced doctors try to simplify it -- well that sounds like a problem waiting to happen.

Hi danwolfe
Your education and experience give you a real advantage is understanding your health issues. I see real value in getting an opinion from a Neurologist familiar with Kennedy's Disease, to assist in your interpretation. Good luck with your research.