Hello, I developed symptoms of Hereditary Sensory and Autonomic Neuropathy Type 1 “due to a T399G missense mutation in serine palmitoyl transferase” when I was 27. I am currently 52. My symptoms started in both feet and my symptoms include numbness, tingling and pain in the feet and hands. I experience motor symptoms such as weakness and loss of muscle particularly in the lower leg and feet muscles. I wear Ankle Foot Orthotics to support the drop foot. Within the past 10 years my hands and fingers have also been affected. I have had partial loss of fingers due to minor injuries where I cannot feel pain and cellulitis that has caused severe damage to my fingers. The slow-healing wounds on my fingers have developed into chronic ulcerations. I have had cellulitis many times and had many surgeries and partial amputations of several fingers.
My mother had HSAN. Her father and his mother also had it. (Helen’s family called the disease “Clark’s disease”, the last name of her great-grandmother). My oldest brother has it; my sister, does not have it. We were all born in England. Elise A. Johnson (Dr. Eichler’s research coordinator) put me in touch with Marsha Wall in Oregon.