Generalized Dystonia

I was wondering if anyone has had any experience with this disorder?  My almost 3-month-old niece has just been diagnosed with this and we're not sure how bad it is yet.  She will be scheduled for an appointment with a neurological specialist and hopefully they can give us some more information then.  The doctors have told my sister that it is common for this disorder to attack people's vocal chords so they are unable to speak and it can also affect their ability to walk and perform everyday functions (like being able to feed yourself, writing, etc.).  They've also said it could be very mild and easily correctable with some physical therapy.  So basically the not knowing is the hardest thing at this point.

The good news is that she has been tested for every under-lying cause of this disorder (including different cancers, cerebral palsy, Parkinsons, etc.) and she is clear on all those fronts.  It appears she only has this condition because of a genetic mutation.

Luckily, she is a very happy and healthy baby.  Unfortunately, this disorder does cause her to have a lot of pain...but my sister is able to help her cope with it pretty well by moving her into certain positions. 

In the UK, if you need help and guidance:

Have you contacted the Dystonia Society?
http://www.dystonia.org.uk/AboutDystonia

You could also contact your local DIAL for information.
http://www.dialuk.info/findadial/index.asp

Also the Council for Disabled Children:
http://www.ncb.org.uk/cdc/home.aspx

US groups listed here, if your sister is in the US:
http://www.dystonia.org.uk/OneStopCMS/Core/CrawlerResourceServer.aspx?resource=A80CD420-C5A4-434A-8B9D-7FC6E86332B6&mode=link&guid=88622eae438743b995008a93a01a5f4e

Also that National Council on Independent Living. NCIL advances the rights of people with disabilities via advocacy. NCIL envisions a world in which people with disabilities are valued equally and participate fully.
http://www.ncil.org/

IME, personally and professionally, the severity of people's impairment and how it impacts one's live is often affected more by external environmental, economic and social factors. Love, support and developing your niece's self esteem will help her reach her potential. I think just trying to educate yourself about the condition and the issues disabled people face may help you to support both your niece and your sister to navigate the services they may need to. ((Hugs))
 



 

Thanks MLG!  My sister is in the US and it's made me really homesick that I can't be there physically to help her out through all this.  Just want to give her a big hug.  But I'm trying to be as supportive as possible from 4,000 miles away...

Hiya! I haven't been on this forum in ages (for no really good reason) and happened to peak in.  I was diagnosed with a focal dystonia here (UK) about 5 years ago. My hand had curled up into a tight fist and I figured it was some sort of RSI having typed for a living for 20+ years.

Anyway, the neurologist told me that there isn't really much they could for me aside from either prescribe me with low mg diazepam to relax the muscles or get botox injections. I opted for the tablets which I only take when the twitches appear in my hand/forearm as it now seems to only show itself if I am really tired or stressed.

Perhaps the US have more options for her but with any luck it will turn out to be mild and/or controlled with meds....or even better, go away! Best wishes!