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possible chorea- neuroacanthocytosis with a sleep disorder

My brother is being tested for chorea- neuroaconthocytosis but the diagnosis hasn't been confirmed yet. Is there anyone who has a sleep disorder in addition to the other symptoms?

My brother is 47 now, and has had symptoms for about 6 years but diagnosis hasn't been confirmed. The first signs were subtle behaviour changes with uncharacteristic actions and loss of inhibitions. Then he developed a sleep disorder with excessive daytime sleepiness which has persisted in spite of medication. The other symptoms of balance and swallowing problems, slurred speech, chorea and dystonia started later and are getting worse. His blood tests so far have been negative for acanthocytes, but I know they can be absent in some cases. His blood has been sent to Germany for Chorein testing. I would love to speak with anyone else who has experience of this. Thank you.

Dear gwynethwray,

Sleep disorders no common. Two men we know found it difficult to sleep at night andsnozed during the day. Our daughter, Alexandra, finds it difficult to get to sleep n about 1 out of 7 nights.. She too catches up after lunch.

Glenn

Thank you for your reply. We have now been told that he doesn't have chorea acanthocytosis or Mc Leod syndrome, so still no further forward with a diagnosis for him. The symptoms all seemed to fit, apart from the sleep disorder which started after his behaviour changed but before the physical changes became noticeable, and his age being a bit older than most others I have read about.
The next step is a detailed examination of all his genes, so I am hoping that will give us some answers.

gingerirvine
moderator

How frustrating for you all. Please let us know how it turns out and we send our very best wishes for a speedy diagnosis and some treatment. Ginger Glenn and Alex

Hello. I have NA and had sleep apnea...but due to my weight loss I don't have it now

my sister does get up at night and sleeps during the day. She sometimes gets up knowingly and sometimes tends to just throw herself to the floor. There is some thought when she throws herself to the floor she is having a seizure. we have been working hard to get her to sleep at night by waking her throughout the day.

Just to update you. We've been told he doesn't have neuroacanthocytosis, so we still don't have an explanation or a diagnosis for his condition. They are now doing whole genome sequencing which may or may not give some answers.