Two of the more uncommon types of dystonias are known as firstly, X-linked dystonia-parkinsonism, otherwise referred to as Lubag dystonia. Secondly, Rapid-onset dystonia-parkinsonism, commonly referred to as RDP. Dystonia does not only affect the person diagnosed. Family, carers and friends also share in the pains, sorrows and joys, experienced by those suffering from the many forms of dystonia, a neurological disorder or group of movement disorders for which there is presently no cure. I am writing briefly today about the two above mentioned forms of dystonia and also where to look for support close to you, wherever you may be.
Firstly, X-linked dystonia-parkinsonism or Lubag, refers to a form of dystonia that seems almost exclusively to affect men whose place of origin is Panay, an island in Indonesia. Although men are predominantly affected, it has been established that their women folk are the carriers of the gene, Xq13.
Lubag dystonia usually presents as a focal dystonia meaning it affects one part of the body. The dystonia then progresses to generalized dystonia affecting many parts of the body before parkinsonian features eventually appear in the majority of cases. Lubag dystonia is different to Rapid-onset dystonia-parkinsonism commonly known as RDP.
Secondly, RDP is recognized as an autosomal dominant movement disorder or dystonia. This means there is a chromosome identified as 19q13 linking people with this form of dystonia.
These people seem to be affected initially by bradykinesia which is slowness of movement common to Parkinsonism including poor balance. However, there is the additional evidence of involuntary dystonic spasms in limbs, voice (spasmodic dysphonia) and swallow (dysphagia).
RDP symptoms may appear quite suddenly over several hours or sometimes, days. The age range for onset of this type of dystonia seems to be from approximately 15 years to 45 years of age.
If you or someone in your family is affected by any form of dystonia, you need not feel alone. Dystonia Australia lists many support group sites and contacts around the world. Please, take time to look at these by scrolling all the way down the support groups page and follow up by contacting someone close to you. There is a lot of information around if we know where to look for it.
If you would like to say something about dystonia, please leave a comment. Alternatively, you may prefer to contact me at s.j.bayliss@bigpond.com.au. I will get back to you.
Sue Bayliss. Cairns, Australia.
Showing posts with label balance. Show all posts
Showing posts with label balance. Show all posts
Sunday, March 25, 2007
Thursday, January 25, 2007
DYSTONIAS. Do they impede me in daily life? Am I normal?
The first article highlighted below explains the dystonias, classification, common types of dystonias, pathophysiology, clinical features and testing, and treatment. The second article presents a good explanation of torticollis, now preferably referred to as cervical dystonia. Both offer good reading. You may wish to print off for future reference or save to a file.
http://www.emedicine.com/pmr/topic235.htm
http://www.emedicine.com/neuro/topic377.htm
What about dystonias. Do they impede me in daily life? Am I NORMAL?
Does it matter? You bet it does! What exactly does ‘normal’ mean anyway? A different thing to different people, is my idea. Most dictionaries state ‘normal’ as something meaning, behavior unimpeded by mental or physical disorder. So? Where does that leave us? Fortunately, we do understand each other. Unfortunately, it seems to be only our family and our medical treatment teams who really understand us – and sometimes some of them are not always spot on. Most people outside those categories are not coping too well listening to our speech, getting out of our way in supermarket isles, standing close to us when we get the shakes and nods – especially in a coffee shop or at an auction! How about holding up the line at a busy taxi rank for those of us who need to maneuver like a combination of Elvis Presley and the local rap dance wiz? Especially when some of us with spasmodic dysphonia attempt to quickly tell the people we will only be a moment getting out of their way!
So many of us can relate to living with the various forms of dystonia. It is so much less stressful when we can explain to others about the great things that are happening in areas of support groups, getting to know other people who are as normal as us, and also being able to offer a wide range of accurate information about the dystonias.
My experience of the week occurred in the shopping centre today. I have a respite carer who takes me shopping two hours weekly, allowing my son to have a break and also alerts astute staff at the supermarket they need to get out of my way on that particular day!
Today, in my usual cheery way, I greeted shelf packing staff and offered to put a packet back on the shelf for a young lady who had knocked it as she was getting onto a step stool, ladder thingy. While looking at foods, my carer did not notice my good natured turn of the day. Then, it all happened at once! The girl on the ladder came down with a thump. My carer came running toward me with a look of abject horror on her face. Children ran screeching for their mothers. A supervisor yelling for someone else to come to isle whatever it was. There I was in all my splendor. Spread eagled on the floor. Cartons of every kind of cereal tumbling down from above. Oh dear. It had happened again! Getting the shakes. Doing the head nodding thing. All at the same time as doing the involuntary crab walk waltz towards where I had wanted to go. It all ended in a somewhat dramatic moment of embarrassment. Trying to croak out to everyone that I really was okay just didn’t seem to come out right either! Sound familiar? With pride hurt more than anything else, we finished the shopping and headed for home. I’m sure many of us share embarrassing moments!
Don’t forget, leave a comment if you would like to and have a great day.
Sue Bayliss. Cairns, Australia.
http://www.emedicine.com/pmr/topic235.htm
http://www.emedicine.com/neuro/topic377.htm
What about dystonias. Do they impede me in daily life? Am I NORMAL?
Does it matter? You bet it does! What exactly does ‘normal’ mean anyway? A different thing to different people, is my idea. Most dictionaries state ‘normal’ as something meaning, behavior unimpeded by mental or physical disorder. So? Where does that leave us? Fortunately, we do understand each other. Unfortunately, it seems to be only our family and our medical treatment teams who really understand us – and sometimes some of them are not always spot on. Most people outside those categories are not coping too well listening to our speech, getting out of our way in supermarket isles, standing close to us when we get the shakes and nods – especially in a coffee shop or at an auction! How about holding up the line at a busy taxi rank for those of us who need to maneuver like a combination of Elvis Presley and the local rap dance wiz? Especially when some of us with spasmodic dysphonia attempt to quickly tell the people we will only be a moment getting out of their way!
So many of us can relate to living with the various forms of dystonia. It is so much less stressful when we can explain to others about the great things that are happening in areas of support groups, getting to know other people who are as normal as us, and also being able to offer a wide range of accurate information about the dystonias.
My experience of the week occurred in the shopping centre today. I have a respite carer who takes me shopping two hours weekly, allowing my son to have a break and also alerts astute staff at the supermarket they need to get out of my way on that particular day!
Today, in my usual cheery way, I greeted shelf packing staff and offered to put a packet back on the shelf for a young lady who had knocked it as she was getting onto a step stool, ladder thingy. While looking at foods, my carer did not notice my good natured turn of the day. Then, it all happened at once! The girl on the ladder came down with a thump. My carer came running toward me with a look of abject horror on her face. Children ran screeching for their mothers. A supervisor yelling for someone else to come to isle whatever it was. There I was in all my splendor. Spread eagled on the floor. Cartons of every kind of cereal tumbling down from above. Oh dear. It had happened again! Getting the shakes. Doing the head nodding thing. All at the same time as doing the involuntary crab walk waltz towards where I had wanted to go. It all ended in a somewhat dramatic moment of embarrassment. Trying to croak out to everyone that I really was okay just didn’t seem to come out right either! Sound familiar? With pride hurt more than anything else, we finished the shopping and headed for home. I’m sure many of us share embarrassing moments!
Don’t forget, leave a comment if you would like to and have a great day.
Sue Bayliss. Cairns, Australia.
Saturday, January 6, 2007
Oh, oh, oh. It grabs me. Just like that!
Cervical Dystonia, also referred to as Spasmodic Torticollis, is frequently painful and very uncomfortable. This is one of several forms of Dystonia. Professional diagnosis is essential and a treatment plan formulated. People suffering from this form of dystonia experience involuntary contraction of neck muscles. This medical condition results in abnormal movement of head and neck, affecting posture and causing loss of balance amongst other unpleasant effects. Torticollis, Laterocollis, Anterocollis and Retrocollis, are the identified forms of Cervical Dystonia.
Torticollis is diagnosed when a person’s chin and nose turn toward one side. When this position is held firmly it is referred to as being tonic. However, when the muscles pull the person’s head recurrently towards this position, it is referred to as clonic. People may also be aware of a tremor of their head. Torticollis is recognized as the most common form of Cervical Dystonia.
Laterocollis is diagnosed when a person’s head is pulled towards one side or the other, towards the shoulder. Some people find their shoulder tends to lift upward. It is common for sufferers of this form of Cervical Dystonia to keep their head centralized or turn towards the opposite side. Together with Torticollis, Laterocollis is one of the two more common forms of Cervical Dystonia.
Anterocollis comes along as yet another form of Cervical Dystonia. This very uncomfortable form of spasming pulls the person’s head forward towards their chest. Although there may be nothing wrong with the person’s eye sight at all, needing to move eyes up so as to see forward for a reasonable distance causes discomfort not only to neck and shoulder muscles but to eyes as well. Lastly, we move on to one more form of Cervical Dystonia.
Retrocollis is so named because the muscle spasms pull the person’s head backwards. This is a particularly uncomfortable muscular position, somewhat dangerous for the sufferer. Head pulling back towards the spine, range of vision and also balance may be quite seriously affected.
The latter form of Cervical Dystonia as described above is the type I have, in addition to Spasmodic Dysphonia. To manage my life on a daily basis, I have a full time carer live with me. He is my youngest son, Darren. Also, being a War Widow, I receive assistance with home cleaning through the Australian Department of Veterans’ Affairs. Darren receives carer respite through the scheme, Home and Community Care (HACC). The HACC service provides me with a relief carer who takes me shopping or bill paying etc for two hours each week. Our very faithful and now very old Labradoodle, Gwyllum, is bathed and pampered by a mobile dog wash service weekly. In these ways my life style is much easier and less stressful than would otherwise be. I am no longer able to drive safely so do not drive at all. This is perhaps the one most difficult relinquishment I have had to come to terms with. There are many other things that assist me, such as varying forms of treatment.
Some future blogs will focus upon the diagnostic process for Cervical Dystonia, treatment options, symptoms and lastly, suspected causes. A very informative site readily accessible for further information is www.dystoniaaustralia.org.au from which you may also be able to access other sites closer to you. Please, consider leaving a comment so as to share with others your thoughts and experiences thus assisting other sufferers to identify with someone else. This empowers people to reach a level of normalization in their own life. Nothing worse than feeling isolated because of a funny voice and or a contorted body!
Sue Bayliss.
s.j.bayliss@bigpond.com.au
Torticollis is diagnosed when a person’s chin and nose turn toward one side. When this position is held firmly it is referred to as being tonic. However, when the muscles pull the person’s head recurrently towards this position, it is referred to as clonic. People may also be aware of a tremor of their head. Torticollis is recognized as the most common form of Cervical Dystonia.
Laterocollis is diagnosed when a person’s head is pulled towards one side or the other, towards the shoulder. Some people find their shoulder tends to lift upward. It is common for sufferers of this form of Cervical Dystonia to keep their head centralized or turn towards the opposite side. Together with Torticollis, Laterocollis is one of the two more common forms of Cervical Dystonia.
Anterocollis comes along as yet another form of Cervical Dystonia. This very uncomfortable form of spasming pulls the person’s head forward towards their chest. Although there may be nothing wrong with the person’s eye sight at all, needing to move eyes up so as to see forward for a reasonable distance causes discomfort not only to neck and shoulder muscles but to eyes as well. Lastly, we move on to one more form of Cervical Dystonia.
Retrocollis is so named because the muscle spasms pull the person’s head backwards. This is a particularly uncomfortable muscular position, somewhat dangerous for the sufferer. Head pulling back towards the spine, range of vision and also balance may be quite seriously affected.
The latter form of Cervical Dystonia as described above is the type I have, in addition to Spasmodic Dysphonia. To manage my life on a daily basis, I have a full time carer live with me. He is my youngest son, Darren. Also, being a War Widow, I receive assistance with home cleaning through the Australian Department of Veterans’ Affairs. Darren receives carer respite through the scheme, Home and Community Care (HACC). The HACC service provides me with a relief carer who takes me shopping or bill paying etc for two hours each week. Our very faithful and now very old Labradoodle, Gwyllum, is bathed and pampered by a mobile dog wash service weekly. In these ways my life style is much easier and less stressful than would otherwise be. I am no longer able to drive safely so do not drive at all. This is perhaps the one most difficult relinquishment I have had to come to terms with. There are many other things that assist me, such as varying forms of treatment.
Some future blogs will focus upon the diagnostic process for Cervical Dystonia, treatment options, symptoms and lastly, suspected causes. A very informative site readily accessible for further information is www.dystoniaaustralia.org.au from which you may also be able to access other sites closer to you. Please, consider leaving a comment so as to share with others your thoughts and experiences thus assisting other sufferers to identify with someone else. This empowers people to reach a level of normalization in their own life. Nothing worse than feeling isolated because of a funny voice and or a contorted body!
Sue Bayliss.
s.j.bayliss@bigpond.com.au
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