Paramyotonia Congentia and Paramyotonia Syndromes
Submitted by deb on Mon, 06/27/2011 - 00:31
In July of 1998 we conducted a survey of 64 self-reported clinically diagnosed periodic paralysis patients, all members of the HKPP Listserv. The questionnaire underwent no formal validation process, nor was the data assessed by personnel trained in this field. The patients surveyed were drawn from several countries and across several racial/ethnic lines and backgrounds.
Submitted by deb on Mon, 06/27/2011 - 00:21
The Compound Muscle Action Potential (CMAP) test (aka the Exercise EMG) is now being used to diagnose the periodic paralyses. When done correctly this test is reported to positively identify 70%-80% of patients.
Submitted by deb on Mon, 06/27/2011 - 00:04
Part Three Case Studies - HyperKPP and PMC
Patient #11 Two Pregnancies:
Familial HyperKPP and PMC Von Eulenburg Symptoms began at age of 11 years
Are your symptoms worse with your menses? No
Pregnancy No 1: Age 27
Diagnosed at time of this pregnancy: No
Submitted by deb on Sun, 06/26/2011 - 22:54
Part One
There is little available medical literature to guide the physician in the care of the pregnant patient who has periodic paralysis. The first part of this packet consists of abstracts and quotations drawn from current literature. But this information is limited. Because Periodic Paralysis International has a number of clients who have given birth we felt it might be helpful to survey them about their experiences. The second, third and forth parts of this packet consists of case studies of women with periodic paralysis who have given birth.
Submitted by deb on Sun, 06/26/2011 - 22:39
Submitted by deb on Sun, 06/26/2011 - 22:13
Myoclonus is the sudden, involuntary jerking of a muscle or group of muscles. Myoclonic jerks may occur alone or in sequence, in a pattern or without pattern. They may occur infrequently or many times each minute. Myoclonus sometimes occurs in response to an external event or when a person attempts to move. The twitching cannot be controlled by the person experiencing it.
Submitted by deb on Sun, 06/26/2011 - 00:05
Paramyotonia Congenita (PMC) is one of the periodic paralyses caused by mutations in the sodium channel. PMC causes muscle stiffness (myotonia) which is made worse by chilling or activity. Myotonia usually eases when the patients moves about, or "warms up" through physical activity. In PMC myotonia develops during activity, which is paradoxical or self-contradictory. This is where Paramyotonia Congenita gets its name, from the paradoxical nature of the myotonia.
Submitted by deb on Sat, 06/25/2011 - 23:22
Pain Often Overlooked
Pain is an often overlooked component of the periodic paralyses. Patients who report muscle pain in association with their episodes are too often told that the periodic paralyses are not painful despite many authoritative reports to the contrary. In fact the pain which accompanies the periodic paralyses is described in some of the literature as prominent or constant.
Submitted by deb on Sat, 06/25/2011 - 19:16
What happens during an attack of Periodic Paralysis?
People with Periodic Paralysis (PP) have episodes in which their muscles become weak or paralyzed in response to variations in the amount of potassium in their blood. These variations occur during sleep, they may result from food the person has eaten, from a sudden change in a person's activity level, from rest after activity, emotional stress, from becoming chilled, or a number of other factors. Potassium levels vary all the time.
Submitted by deb on Sat, 06/25/2011 - 03:16
Paramyotonia congenita (PMC) is a muscle disorder which causes muscle stiffness (myotonia) that appears during exercise and becomes much more severe upon exposure to cold. The myotonia which occurs during attacks of PMC may be so severe that the patient cannot inhale and exhale properly, and movement becomes difficult. The medical term myotonia means that the muscle fibers are slow to relax after contraction.
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