Could my symptoms be HD?
July 22, 2014
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Could my symptoms be HD?
Q. My great grandmother died of a severe neurological disease in the 1940s. She would have been around 50 at the time of her death.
My grandfather never spoke much about his mother or what illness she had except to say that he had to provide for the two of them while in school. Medical records have been long since destroyed and he died fairly young of cancer, himself. My parents generation doesn’t show any signs of HD.
When I was a teenager, I developed severe muscle tension which progressed to episodes of being unable to walk due to an abnormal gait by my late 20s. Now in my 30s, the episodes have become more frequent, and last longer and the rigid muscles affect more of my body. Some of the symptoms never clear up anymore while others, such as my gait, are still episodic, but the episodes are worse than when I was younger. The rigidity is fairly well controlled by medications, now, and doesn’t seem to be the cause of the abnormal gait, which was the original assumption. I don’t have chorea.
I’m currently searching for a correct diagnosis, as I don’t think my current one is accurate. I realize HD is probably not it, but is it possible that my great grandmother had HD and my grandfather died before showing signs, but passed the gene to my mother and I developed the juvenile form? I have a first cousin who shows similar symptoms which started in her early 20s.
Is it worth being tested to rule out HD, or is it too unlikely to be the cause of my problems? Also, my grandfather was my only link to that side of the family. If any of his relatives had whatever his mother had, I wouldn’t have known.
Jake, Young Adult, USA
A. Hi Jake,
Thanks for your message. From your story and, not having met you, I can’t be sure what your diagnosis is. It doesn’t sound very like HD though. There are a number of reasons for thinking this diagnosis is unlikely. The main one is that, if you had symptoms of HD starting as a teenager, you would probably have too much cognitive impairment to write me the sort of email you have in your 30’s. Intermittent/episodic symptoms are really unusual for HD too. Also, there’s no-one in the family with a confirmed diagnosis of HD. I would also have expected more family members to be affected.
I can’t give you a definitive answer without taking a full history/examination etc…but my initial impression is, it doesn’t sound like HD.