My name is Elvira and I live in Sweden. My father has Kennedys disease and me and my sister are carriers.
I have had years of difficulties with getting easily tired out in my muscles, exhaustion, muscleproblems in legs and arms when doing exercises or just climbing a stair or doing my hair.....etc etc. A DNA bloodtest showed that im over the "limit for developing symptoms" of Kennedys disease: 44 cags, 28 cags.
I talked to my neurologist and to Genetical centre in Lund Sweden. They all believe my problems are because of Kennedys, that im a carriers of, ...even though i will not develop the disease.
Anyone here who is a carrier of this disease who also have developed symptoms?
Or anyone who knows or have heard about women with problems from SBMA/Kennedys symptoms?
Location: Chicago, IL
Elvira, in general women don't develop the symptoms of KD probably because their testosterone level tends to be only about 10% the level in men. However my mom developed strong symptoms of KD. She had elevated testosterone and became diabetic in her later years, both likely contributing factors.
Thank you so much for your answers!
Im only 36 years old so in very young to develop these symptoms and very uncommon because like you say women mostly dont develope symptoms.
My neurologist said that one x chromosome can be more active than ones other x chromosome, one is then heterozygote woman. My "sick" x chromosome is more active than my health x.
Will check out the links!
Kennedy's Disease Association
PO Box 1105 Coarsegold CA 93614