The Rare Dystonias- do you have one ?

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Permalink Reply by beka on October 13, 2008 at 8:17pm

One form of a rare dystonia is the Paroxysmal Dystonia :

Paroxysmal dystonia can be a challenging condition to live with. The attacks can be quite unpredictable, and this can interruptnormal life. Paroxysmal dystonia is quite a rare condition, and therefore most people,including some doctors, will not have heard of it. People can become confused between paroxysmal dystonia and epilepsy.

Another form is Laryngeal Dystonia - resulting in difficulty breathing - called dyspnea.

P. Zwirner1 , D. Dressler2 and E. Kruse1

(1) Abt. Phoniatrie und Pädaudiologie, Georg-August-Universität Göttingen, Robert-Koch-Strasse 40, D-37075 Göttingen, Germany
(2) Abt. Psychiatrie, Georg-August-Universität, Robert-Koch-Strasse 40, D-37075 Göttingen, Germany

Received: 20 August 1996 Accepted: 8 October 1996

Abstract : We describe clinical experiences in the management of three patients with laryngopharyngeal dystonia causing severe breathing problems. In contrast to spasmodic dysphonia, which presents with action-induced involuntary spasms of laryngeal muscles during speaking, all three patients showed laryngopharyngeal spasms primarily during respiration. In analogy to spasmodic dysphonia we propose the term spasmodic laryngeal dyspnea for this rare condition. Localized unilateral botulinum toxin injected into the thyroarytenoid muscle and /or ventricular folds reduced the quantity and quality of spasms and led to a pronounced improvement of breathing problems.

Botulinum toxin therapy of laryngeal muscle hyperactivity syndromes: comparing different botulinum toxin preparations
D. D. Truong a and R. Bhidayasiri a,b,c
a The Parkinson's and Movement Disorder Institute, Fountain Valley, CA, USA ; b Movement Disorders Group, Division of Neurology, Chulalongkorn University Hospital, Bangkok, Thailand ; and c Department of Neurology, UCLA Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA
Correspondence to Daniel D. Truong, MD, The Parkinson's and Movement Disorder Institute, 9940 Talbert Ave, Fountain Valley, CA 92708, USA (tel.: +1 714 378 5062; fax: +1 714 378 5061;
e-mail: dtruong@pmdi.org).
Copyright 2006 EFNS
KEYWORDS
abductor spasmodic dysphonia • adductor spasmodic dysphonia • botulinum toxin • laryngeal spasmodic dyspnea • voice tremor • voice tremors
ABSTRACT
Spasmodic dysphonia (SD) is a focal dystonia characterized by a strained, strangled voice. Botulinum toxin is a symptomatic treatment for SD and has become the mainstay of therapy over the last two decades. In this manuscript, we briefly review different laryngeal muscle hyperactivity syndromes, their injection techniques and toxins currently available. Adductor SD is the most common indication for botulinum toxin treatment in the larynx. All studies report similar results with regard to improvement, patient satisfaction and side effects. We describe different injection techniques to treat this disorder such as the percutaneous, transoral, transnasal, point-touch techniques. In abductor SD, a subtype of SD, the treatment is aimed at the posterior cricoarytenoid muscle. Other applications of botulinum toxin in the larynx include spasmodic laryngeal dyspnea and voice tremors. We also review injection techniques, the different toxin types used, and toxin doses.

Drug-induced Cyclizine Dystonia : Case report.
A patient underwent an emergency Caesarean section under general anaesthesia. Following delivery of a live infant, cyclizine was administered in accordance with departmental anti-emetic protocol. On awakening she was confused, slow to articulate and had slurred speech. A computed tomography (CT) scan, which was performed to exclude an intracranial event, was normal. Her symptoms were suggestive of a lingual–facial–buccal dyskinesia as seen with dopamine antagonists. A presumptive diagnosis of a dystonic reaction to cyclizine was made. She received two doses of procyclidine before her symptoms completely resolved. Cyclizine has had a resurgence in popularity owing to the recent withdrawal of droperidol and anaesthetists should be aware that, although extremely rare, dystonic reactions may occur with this agent.
Keywords: Anti-emetic: cyclizine; Complications: dystonic reaction
Document Type: Case report

I have never heard of Cyclizine being used for nausea. This is new to me. Be aware of this drug now.
I have begun the above list to get all of you talking and sharing with one another as well as inclusio of all forms of dystonia.
beka

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Permalink Reply by ramona on October 13, 2008 at 10:45pm

Well, I am not certain if I "fit" into a rare category or not, but I have had more than one MDS comment that my case is highly unusual. I am not sure if my dystonia is really that rare, or if they have simply not hit the diagnostic nail on the head yet, though.

I have what they are considering Adult Onset Generalized Dystonia, which is partially responsive to levadopa. Generalized dystonia almost always begins in childhood - there are some possible connections to child hood issues, but no doc has really pursued that. When a dystonia patient is responsive to levadopa they are usually considered to have Dopamine Responsive Dystonia, but my symptoms do not fit neatly into that category, either.

Most recently, when I have flare ups, I do have problems breathing. Docs have not tackled this issue yet, as I have not seen one during one of these flare ups. It is not the lungs that are having problems, but every time I breathe, it is like the intake of breath is exaggerated times ten with a chest spasm. I don't know what that is called, if it has a certain label, but it can make it hard to take even a few steps at times.

This is a good topic, Beka - thanks for starting it!
Blessings
Ramona

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Permalink Reply by Jared on October 20, 2008 at 2:27pm

I was wondering if there's anyone out there that can elaborate on what Ramona said "Generalized dystonia almost always begins in childhood." My wife is generalized and she can't think of anything from her childhood, that is anything near what she's going through now.

How long do we think it'll be before there is testing on the other genes for dystonia...other than DYT1?

Do spinal taps reveal anything as far as dystonia is concerned.

What are all the tests that could/should be done as far as dystonia is concerned?

Sorry, as I was typing my mind just became flooded with questions all the sudden.

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Permalink Reply by ramona on October 21, 2008 at 9:36am

I wonder if we should start a new thread with this, Jared? I will reply here, but let's consider doing that and getting more input. All I know is that I seem to be very much an exception, as generalized dystonia is usually a childhood onset illness. For instance, the DMRF has a classification for early onset generalized dystonia, but none for adult onset. http://www.dystonia-foundation.org/pages/forms_of_dystonia/41.php Many patients are also told that if a dystonia comes on in adulthood, it will not spread. I wish...

The things that may be connected in my childhood are very mild and nothing that I would otherwise even have a second thought about. 1) I had to wear corrective shoes when very young due to my feet turning in 2) I had problems with my neck hurting and being very tense when I was a teen. That is all I can think of right now - not much to go on, is it?

Jared, I need to go back and read more about your wife's dystonia. Is there a post that you can direct me to that would be a good general description of it? Mine started in March of 2005 and it spread over the next few months. I was diagnosed in May of 2006 with generalized dystonia and had DBS surgery a year later, so things moved fairly quickly with me, although it seemed like a snail's pace at times.

Blessings
Ramona

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Permalink Reply by Robin Wood on October 21, 2008 at 10:29am

Generalized Dystonia is simply a classification under or within Dystonia. One way dystonia is classified is as follows:

Generalized dystonia affects most or all of the body.
Focal dystonia is localized to a specific part of the body.
Multifocal dystonia involves two or more unrelated body parts.
Segmental dystonia affects two or more adjacent parts of the body.
Hemidystonia involves the arm and leg on the same side of the body.

The more areas of the body that become dystonic the more apt you are to be dx'd with a Generalized. Another way dystonia is classified is by age of onset:

Adult Onset: A category of dystonia in which the symptoms begin in adulthood, typically after the age of 30. The term “late onset” may also be used.

Early Onset: A category of dystonia in which the symptoms begin in childhood, typically before the age of 30. The term “childhood onset” may also be used.

Both adults and childern can have a generalized dystonia, just because you have a generalized does not always mean it began in childhood. Dystonia can start at any age and I think one important factor to always consider when doing any research is like Beka says: "There is no cookie cutter receipe for dystonia, it effects us all differently".

Here is a book from google books that talks in detail about dystonia: NOTE: go to page 298 http://books.google.com/books?id=C-Hg9_e-SBwC&pg=PA298&lpg=...

Robin

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Permalink Reply by ramona on October 21, 2008 at 12:23pm

What you say is absolutely true, Robin. Generalized is a specific classification of dystonia. However, it is much more unusual for an adult to develop generalized dystonia than it is for a child to. Quoting the book you referenced, from the section on Primary Generalized Dystonia, "Also known as "idiopathic torsion dystonia"..., this disorder begins in childhood or early adulthood."

Since my symptoms developed when I was 43 and that is not considered early adulthood, the doctors consider my case of "Adult Onset Generalized Dystonia" to be unusual.

Blessings
Ramona

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Permalink Reply by BDrake on October 21, 2008 at 12:54pm

Well then maybe mine wouldn't be considered "adult onset" since it all started at age 26.
~Becky

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Permalink Reply by Jenn on July 21, 2009 at 12:45am

Ive been told that early onset typically fully manifests by age 27... also (unrelated when I was a spokesperson for LASIK.. the eyes can take up to 25 years to fully develop) Perhaps our bodies aren't really done until 24-27 and thats why early onset can come as late as that?

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Permalink Reply by Robin Wood on October 21, 2008 at 12:14pm

Ramona,

I was curious, when you have problems breathing are there also odd sounds going on too ??? Have you ever researched Laryngeal Dystonia and Stridor ??? I always say both because Laryngeal dystonia is classified as Stridor or charactorized as ... sometimes it all gets really confusing.

Please tell me more about your breathing issues.

Robin

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Permalink Reply by ramona on October 21, 2008 at 12:37pm

Hi Robin,
I am not sure whether it is fortunate or unfortunate, but my neuro has not really seen me when I am having what I call the chest spasms. Well, the one time he did, he didn't pay much attention to them, at least. Mine come on when the dystonia increases overall - that is usually the sign that I am in for a rough 2-3 weeks. During these episodes, any time that I exert myself to the slightest extent (even taking a few steps), it triggers my chest to spasm with each intake of breath. My breathing is actually fine during this time and my GP said that my lungs are clear, though (no lung sounds he could hear). It is like the breath intake is one huge spasm of my diagphragm each time - about ten times the normal amount. Does that make sense?

I have not had this diagnosed by a doc, as it usually calms down after about 2-3 weeks and my neuro is two hours away. I emailed him last time it happened and he offered to give me klonopin, but I didn't want that as it never helped before. I did have to break down and buy a wheelchair during the last episode, though, as it was impossible for me to breath and walk outside of going from room to room in my home.

I have read some about laryngeal dystonia and that sounds pretty accurate, but like I said, there was no actual lung sounds/problems, so I don't think it would be considered stridor. I don't know what it is, but each time it happens, I go and do more research. Somehow it doesn't seem as important when it is not happening, though. ;-)

Blessings
Ramona

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Permalink Reply by BDrake on October 21, 2008 at 12:53pm

I've had something similar...only not as severe as your sounds...or maybe i'm misunderstanding. Mine feels like someone is sitting on my chest when I try to take a breath in . I can only take shallow breaths. I've had an episode like this recently and made a trip to Wal-Mart with my husband and kids while it was going on. I was very fatigued, dark circles under my eyes and couldn't talk with normal volume b/c it took to much air.
~Becky

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Permalink Reply by Robin Wood on October 27, 2008 at 11:02am

Ramona and Becky,

I've posted a couple studies in the "Dystonia Research Library" regarding breathing.

Romona, my lungs have always sounded clear too on examinations even though there is clearly a sound being made and I've been to the docs or ER lots of times when mine has been going full force all my docs have definetely heard mine. I've always been told my Co2 is good when mine happens even though it feels like I can't breath. In the very beginnng when mine started, back in 1996 they said mine was ashma but the more docs that heard it the more they said no. My sound comes on the exhale, not the inhale which I beleive is opposite of ashma. If there is no sounds that you can hear you may not have the same spasm going on that I do with this one. I can feel the vibration too in my chest a lot of times, my docs have always told me that is from the air passing over spasming muscles.

Becky, this that Romona and I are speaking of is different then the current spasm you, Karen and I were speaking of over on myspace .... or maybe it is the same just manifesting itself differently in that maybe the rib muscles are involved where the diaphragm is attached. What I can say for sure if that the type of spasming the three of us were talking about didn't produce the noise like in the spasm Romona and I were speaking of. This spasm made it hard to breath on the inhale.

I think there's a lot more to be learned on dystonia and breathing. In the past I've done some research into why I run out of breath when my larger muscles are in spasms but am fine when they are not. We should start another post on this.

Robin

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