Does anyone know about Kennedy's Disease?

[The Younger Sister]

Kennedy’s Disease (spinal and bulbar muscular atrophy) is an adult-onset “X” linked inherited disease with symptoms usually beginning to appear between the ages of 30 and 50. It is frequently misdiagnosed as ALS. My sister was diagnosed with Kennedy's disease at University of Pennsylvania last year. This disease occurs in males (x-linked recessive) but because she also has Turner's syndrome (only one X chromosome), she unfortunately has this disease. It is progressing very fast (atypical from what I have read) and within a one year period she is unable to go up and down stairs and can hardly walk (even with a walker). Kennedy's disease is very rare (less common than ALS), and I don't know if a woman has ever had this disease. Does anyone know if there is support for this MND within the ALS group? I want to understand if she can loan a wheelchair, etc. Thank you so much for your help

 

[Nikki J]

I do not think we have anyone here with it. I expect you have joined the Kda forum? It doesn’t look terribly active but if you have not posted there I would try.

I would call the MDA. kD may well fall under their umbrella. ALS does. They may be able to help with a wheelchair

 

[lgelb]

I take it that she had the KD genetic test? I would want a second opinion if not, maybe even if so. Even Penn is not infallible. Has she had hormone therapy for the Turner's?

Women can have it, even without Turner's, but I am not sure that Turner's accounts for the fast progression you describe. There could be an overarching mutation involved.

The MDA has it under their umbrella, so I agree with reaching out to them. I'm very sorry that she and you are dealing with so much.

Best,
Laurie

 

[The Younger Sister]

Thank you for your responses. Yes...she had the genetic test (CAG repeats) and is positive. No one in our family has ever had this disease and it is possible a spontaneous mutation. I think the progression is not characteristic of Kennedy's Disease and is even rapid for ALS. So very sad for her...she has had a tough life already with Turner's Syndrome and now this....life is not fair...but I guess everyone on this forum knows that. I thank you very much for taking the time to read and respond and wish you all the best.