if you have paroximal dyskinesia or pnkd ,could you reply to this

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Permalink Reply by marie on September 28, 2009 at 2:27pm

dear friends-its so discouraging to put out a post and have no replies,not even becka who suggested i post..am i posting this wrong.thanks,marie

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Permalink Reply by beka on October 19, 2009 at 3:41pm

Hi Marie -
Please do not be upset. I read every single post but must remind everyone that I also work 3 12-hour shifts every week in the ICU, which takes time to recover from even with DBS physically nad mentally. But, again, no excuses, I will try to answer your questions here.

About Parosysmal Dyskinesia :

The paroxysmal dyskinesias are a group of rare movement disorders characterized by attacks of hyperkinesis with intact consciousness. There are 3 forms of it :

Paroxysmal kinesogenic choreoathetosis
Paroxysmal nonkinesogenic dyskinesia
Paroxysmal exercise-induced dystonia

Paroxysmal Nonkinesigenic Dyskinesia (PNKD) is an episodic movement disorder first described by Mount and Reback in 1940 under the name "Familial paroxysmal choreoathetosis". It is a rare hereditary disease that affects various muscular and nervous systems in the body, passing to roughly fifty percent of the offspring. It has been mapped to chromosome 2q31-36.
The condition can and has been referred to by a number of different names since it was first described, including the following:

Paroxysmal nonkinesigenic dyskinesia
PNKD
Paroxysmal dystonic choreoathetosis
PDC
Mount-Reback syndrome (in honor of Lester Adrian Mount and S. Reback; the two doctors that classified it)[3]
Nonkinesigenic choreoathetosis
Familial paroxysmal choreoathetosis
Choreoathetosis familial paroxysmal
FPD1
DYT8
Dystonia 8

The condition manifests itself as attacks lasting from a few minutes to several hours. Episodes only happen when the individual is awake, and they remain conscious throughout the attack. Symptoms are most severe in youth and lessen with age. Sufferers can have multiple attacks on a daily basis or may have periods of weeks or months between attacks. Symptoms experienced during attacks can vary and include dystonia, chorea, athetosis, ballismus, or a combination of all.

While not the same in all people, there are several common triggers that can precipitate an attack:

Moderate to high consumption of stimulants, such as alcohol, caffeine, or nicotine.
Low amounts of energy due to hunger, lack of sleep, illness, or physical fatigue.
Moderate to high presence of stress.
Menstruation and ovulation.

Most pharmacological treatments work poorly, but the best treatment is a low dosage of clonazepam, a muscle relaxant. Patients may also benefit from other benzodiazepines, phenobarbital, and other anticonvulsants such as valproic acid. Affected individuals have reported garlic to be effective for softening the attacks, but no studies have been done on this.

More...
beka

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Permalink Reply by beka on October 19, 2009 at 3:47pm

More info :

Paroxysmal kinesogenic choreoathetosis (PKC), otherwise known as paroxysmal kinesogenic dyskinesia (PKD), is a type of paroxysmal dyskinesia characterized by episodes of chorea, athetosis, or dystonia, triggered by sudden movements or startle. Episodes may be preceded by an aura, and generally last seconds to minutes, although they don't involve loss of consciousness in the patient. Frequency of attacks varies considerably, between multiple times in a day to as few as once a month.

Attacks of paroxysmal kinesogenic choreoathetosis may be reduced or prevented by anticonvulsants, including oxcarbazepine, carbamazepine, phenytoin, ethosuximide, and lamotrigine.

The etiology of the disease is unknown, although familial forms have demonstrated some mapping to chromosomal loci.

Paroxysmal exercise-induced dystonia is a type of paroxysmal dyskinesia characterized by episodes of dystonia induced by sustained exercise. Episodes may last for several hours. The paroxysmal dyskinesias are a group of rare movement disorders characterized by attacks of hyperkinesis with intact consciousness.

LINK : http://www.neugenes.org/paroxysmal_dyskinesia.htm

You are not being forgotten, Marie. Everyone- let's give Marie some support. If you know more about this movement disorder or if the above descriptions sound like your symptoms, please share them here with Marie.

beka

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Permalink Reply by marie on October 19, 2009 at 6:28pm

thanks becka and omg dont apologize.i have chacteristics of all 3.is that common.i also freeze,posture, and have trouble motor planning and i get stuck,especially mhands and my head.if my head is bent forwardd my legs go up.if my head goes back the opposite happens and my back aarches way back.i havelaryngeal spasms and respitory spasms.more later..tired.love,marie

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Permalink Reply by beka on October 19, 2009 at 8:19pm

I just wanted to make sure that YOU knew ( as everyone else does ) that not a single person is forgotten on this forum.
Can you explain your " freezing episodes ". To me, that maks me wonder if you have a parkinsoniasm-like disorder ? Has a MDS ever brought that to your attention ?

Also you mention what seems like fine motor coordination problems- trouble planning motor skills- does that mean - trouble doing skills ? Can you give examples...

Thinking...
be

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Permalink Reply by marie on October 24, 2009 at 9:01pm

these are things my pt had noticed.she used the term parkinsonisms.freezing occurs when practicing wiith my walker.its like freezetag.i go somesteps and suddenly stop.she taught me to focus on somethinh ahead and auditory cues or tapping my leg helps.motor planing is figuring out the steps to do something.i need help breaking it down.ie tranfer to bed from scooter by myself.lpractice look at tv anput r hand on table..look at the clock look at the cabinet,reach with left hand a grab bedrail and sit.all that to turn around and sit.marie

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