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herding cats

(19,733 posts)
Thu Apr 6, 2023, 10:41 PM Apr 2023

Spinocerebellar ataxia type 1. Anyone here familiar with this? [View all]

Hopefully this is the right spot for this.

It's a genetic disorder and my brother was diagnosed with it last year.

Spinocerebellar ataxia type 1 (SCA1) is a progressive movement disorder that typically begins in early adulthood (but can affect children and older adults as well). Early signs and symptoms includes problems with coordination and balance (ataxia), speech and swallowing difficulties, muscle stiffness, and weakness in the muscles that control eye movement. Over time, SCA1 may cause mental impairment, numbness, tingling, or pain in the arms and legs and uncontrolled muscle tensing, wasting, and twitches. SCA1 is caused by changes in the ATXN1 gene and is inherited in an autosomal dominant fashion.


His symptoms actually began about 8 years ago. They've escalated drastically the past year. I'm his support and going to be his care provider and I was wondering if anyone here has dealt with this in their family? It's a long shot, I know.

I realize this is an extremely rare genetic condition, but I thought I might ask just in case anyone here is familiar with it. It's so rare it isn't something easily researched as to what to expect. The past year has made me suspect his issues with speech and mobility might rob him of his abilities to live alone faster than we expected.


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