Dear Kuchee, Glad physiotherapy is helping you so much! I've had ataxia 20+ years now and didn't know why until 2017. I had genetic exome testing followed by other tests and found out my ataxia is due to adult/late onset Niemann Pick C disease (it's very rare). I live in the United States and find this site and the wonderful people one here very helpful! My best to you..., ;o)
Well, could you elucidate more about your Ataxia .i.e what are the symptoms being?
Are you consulting with your physician?. You've been in the decease for 20+ years, how you've got to diagnose so late?
Yes so far physiotherapy for me is giving much shelter to my condition but i am to do more to recover it. Hoping positive results. Will share upon done.
Hi Kuchee, My ataxia is due to Niemann Pick C disease (NPC). Initially, I was diagnosed with Sporadic Cerebellar Ataxia (unknown cause). My neurologist didn't know why I had ataxia for years, as no one in my family, as far back as we knew, had/has ataxia, except me! In 2017, I had genetic exome testing and a single NPC gene was found. Therefore, after a skin biopsy followed by a blood test, it was determined I not only had a single NPC gene but an unknown variant for NPC disease. It's recessive which means I got the NPC gene from one of my parents and the unknown variant from the other (my parents were asymtomatic, which means they both carried either a gene or unknown variant, but had no symptoms). I also have two sisters and a brother, but there was only a 25% chance any of them would be effected. They could be asymptomatic carriers or not carriers at all. Therefore, I'm the only sibling effected. My ataxia effects my gait/balance (I use a cane or rollator most of the time, but am able to walk,
extremely carefully, holding onto things), dexterity (writing,/printing/fine motor skills), speech (slurred), swallowing (coughing and sometimes choking) and vision (vertical gaze/slow to focus). The younger a person is when diagnosed with NPC, the more serious the symptoms. I was first diagnosed in my 40's and just have ataxia. Also if an infant or child is diagnosed they usually die of severe complications like an enlarged liver and spleen and severe psychiatry symptoms, etc., within a few years. My ataxia is progressive and has progressed over the years, albeit slowly! My main focus is NOT to fall, as I've broken many bones and severely hurt myself over the years. I see my neurologist every six months so he can keep tabs on me. What are your symptoms? Sorry to go on and on endlessly, just trying to explain and answer your questions. That's GREAT that you have such a positive attitude! ;o)
Fabruray, your conditions are tough though and you've been through extensive progression as well...thanks for sharing. Prayers for you.
The symptoms i've been in are, balancing and coordination, swallowing, chocking etc. In addition to my lumber pain is sometimes exceeding bear-full limits. I am in of getting neurologist advice to overcome at max by exercising and diet programs.
Dear Kuchee, Thank you for your kind words! I hope physiotherapy continues to be helpful for you, as well as exercising and your diet! Blessings & my best to you..., ;o)
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