Two of our support group members have agreed to talk to us about personal
experiences that will be of interest to team members. RJ Bernard is going to talk to us about his recent successful surgery for cervical dystonia and Deborah Woodward, registered yoga teacher, will talk about Svaroopa yoga. Check out Deborah’s website at http://www.easyinyourbones.com for an advance look at the topic she will cover.
Genetics
A pressing question for many people with dystonia is Will I pass dystonia onto my children and grandchildren?
The answer to this question depends greatly on the form of dystonia and what is currently known about the genetics of that form. There are genetic forms of dystonia that we know can be inherited, forms that are apparently not inherited, and forms that may or may not be inherited—scientists simply don’t know yet.
If your dystonia is the result of trauma, exposure to medications, or a stroke then it is not likely to be genetic and your children and grandchildren will in all likelihood be dystonia-free. Dystonia can be a symptom of many genetically inherited diseases, and the chances of passing along those diseases depends on the inheritance patterns of those conditions.
If you have a form of dystonia that is known to be genetic—especially if other people in your family have symptoms—then there is a chance that you may pass the disorder on to your children. At present researchers have recognized multiple forms of dystonia that can be inherited genetically and have identified at least 13 genes or chromosomal locations responsible for the various forms.
The forms of dystonia for which genes or gene markers have been identified include early onset generalized dystonia, dopa-responsive dystonia, paroxysmal dystonias, x-linked dystonia-parkinsonism, myoclonic dystonia, and rapid-onset dystonia-parkinsonism. However, as we will discuss below, not everyone who inherits a “dystonia gene” will develop symptoms, and some people develop dystonia that is believed to be genetic without any family history.
Scientists are actively seeking additional dystonia genes. Studying the genetics of dystonia will not only help refine diagnostic and reproductive technology applications, but it also contributes greatly to our understanding of dystonia and quest for better treatments and a cure.
From our NSDA Eastern Regional Coordinator. He found the article in a Bank of America Newsletter and added the last paragraph……………
Keep on swinging
I’ve never followed boxing closely, but I chuckle at the attitude of a high school boxing coach. Some of the new athletes were, let’s say, better suited for other activities. One of his boys worked furiously for a couple of rounds but never connected with anything that might be construed as a punch. Nevertheless, he asked, “What do you think, Coach? Have I done him any damage?”
“No” said a bewildered coach. But keep on swinging. The draft might give him a cold.”
Slim as it is, that might be his only chance to win! And we’ve all been there, haven’t we? Slim to none are sometimes the best odds we can hold out for. And actually, sometimes it is better to keep on swinging – failure only comes after we have given up!
It took 32 years of failures for dedicated climbers to reach the top of Mount Everest, a peak scaled so often now it hardly makes the newspaper! At over 29,000 feet of altitude, snow never melts atop Mount Everest. Sometimes winds at the summit reach 200 mph.
George Leigh-Mallory is recorded as first attempting the climb in 1921. On his third try, in 1024, he disappeared into the mist, never to be seen alive again. The mountain had won. But friends of Mallory one day gazed upon a large picture of Mount Everest and declared, “Mount Everest, you defeated us once. You defeated us twice. But Mount Everest, we shall some day defeat you because you can’t get any bigger – and we can!”
Eight more attempts were made on the mountain, resulting in eight more failures. But finally, along cam Edmund Hillary, who, along with his guide, Tenzing Norgay, reached the summit first in 1953.
Failure comes only after one gives up. If slim to none are the odds of winning, they might be worth taking. For we can always get bigger – bigger in ability; bigger in experience; and bigger in wisdom;
I like the observation of Josh Billings, who says, “Consider the postage stamp; it’s usefulness consists in the ability to stick to one thing ‘til it gets there!”
These examples illustrate the importance of determination to continue the battle until you get the upper hand. It not only applies to boxing or mountain climbing but also to being able to deal with Spasmodic Dysphonia/Dystonia. Don’t let it control your life. Spasmodic Dysphonia/Dystonia does not define you as a person. Don’t let it defeat you!
From the Dystonia Medical Research Foundation website…….
What form of dystonia do I have?
If you are new to dystonia, it can be a challenging disorder to understand. The words used to describe your specific diagnosis may be confusing.
To accurately describe the “form” of dystonia that an individual has, at least four specific pieces of information must be accounted for:
· The age at which the symptoms started
· How the body is affected
· What is known about the cause
· If the dystonia occurs with symptoms of additional neurological disorders
All of the above is needed to set the best course for treatment, but for the sake of routine conversation, most people use the terms that describe the most prominent feature of the dystonia (for example, cervical dystonia for dystonia that affects the neck and shoulders; dopa-responsive dystonia for the form of childhood-onset dystonia that has characteristics that resemble parkinsonism).
From the Dystonia Medical Research Foundation:
Quick Facts about Early-onset Generalized Dystonia:
- Early-onset generalized dystonia is characterized by involuntary muscle contractions that begin in the limbs. Symptoms may spread from the site of onset, and cause twisting contractions of other parts of the body.
- Early onset dystonia can be broadly divided into two major categories: DYT1 early onset generalized dystonia and non-DYT1 early onset dystonia.
- DYT1 generalized dystonia is known to be caused by a specific mutation in the DYT1 gene. DYT1 dystonia is primary.
- However, not all primary generalized dystonias that begin in childhood are caused by the mutation in the DYT1 gene. These forms are simply referred to as non-DYT1 generalized dystonia.
- Features such as cognition, strength, and the senses, including vision and hearing, are normal.
- While is a chronic disorder, the overwhelming majority of cases are not fatal.
Symptoms:
Symptoms of early-onset generalized dystonia can include:
- Twisted postures, for example in the torso or limbs
- Turning in of the foot or arm
- Muscle spasms, with or without pain
- Unusual walking with bending and twisting of the torso
- Rapid, sometimes rhythmic, jerking movements (often “myoclonic jerks”)
- Progression of symptoms leading to areas of the body remaining in sustained or fixed postures
CORE GROUP MEMBERS
Coordinator: Carol Wines
Phone: (804) 746-2321
e-Mail: carolw2006@comcast.net
Co-coordinator: Joyce Gumm
Phone: (804) 639-6778
e-Mail: JamesWGumm@aol.com
Treasurer: Jim Gumm
Phone: (804) 639-6778
e-Mail: JamesWGumm@aol.com
Newsletter: Ted Pytlik
Phone: (804) 379-7230
e-Mail: ted.a.pytlik@usa.dupont.com
Dystonia Coordinator: RJ Bernard
Phone: (757) 724-5266
e-Mail: RJ.BernardIII@penske.com
