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$Unique_ID{BRK04084}
$Pretitle{}
$Title{Paramyotonia Congenita}
$Subject{Paramyotonia Congenita Eulenburg Disease Myotonia Congenita
Intermittens Paralysis Periodica Paramyotonica Paramyotonia Congenita of Von
Eulenburg Von Eulenburg Paramyotonia Congenita Hyperkalemic Periodic Paralysis
Myotonic Dystrophy Thomsen Disease Hyperkalemic Periodic Paralysis}
$Volume{}
$Log{}
Copyright (C) 1992 National Organization for Rare Disorders, Inc.
907:
Paramyotonia Congenita
** IMPORTANT **
It is possible that the main title of the article (Paramyotonia
Congenita) is not the name you expected. Please check the SYNONYMS listing
to find the alternate name and disorder subdivisions covered by this article.
Synonyms
Eulenburg Disease
Myotonia Congenita Intermittens
Paralysis Periodica Paramyotonica
Paramyotonia Congenita of Von Eulenburg
Von Eulenburg Paramyotonia Congenita
Information on the following diseases can be found in the Related
Disorders section of this report:
Hyperkalemic Periodic Paralysis
Myotonic Dystrophy
Thomsen Disease
Hyperkalemic Periodic Paralysis
General Discussion
** REMINDER **
The Information contained in the Rare Disease Database is provided for
educational purposes only. It should not be used for diagnostic or treatment
purposes. If you wish to obtain more information about this disorder, please
contact your personal physician and/or the agencies listed in the "Resources"
section of this report.
Paramyotonia Congenita is a rare muscular disorder inherited as an
autosomal dominant trait. This nonprogressive disorder is characterized by a
condition in which the muscles do not relax after contracting (myotonia).
Symptoms can be triggered by exposure to the cold. There are also
intermittent periods of a type of paralysis in which there is no muscle tone
(flaccid paresis). This condition does not necessarily coincide with
exposure to cold temperatures or myotonia. There is no wasting (atrophy) or
increase in bulk (hypertrophy) of muscles with this disorder.
Symptoms
Patients with Paramyotonia Congenita have a condition in which the muscles do
not relax after contracting (myotonia). This condition may become worse with
exposure to the cold. The muscles of the face, tongue and hands are most
often affected. Repeated contractions of the muscles can aggravate the
myotonia (paradoxical myotonia).
Some patients with Paramyotonia Congenita may experience a form of
paralysis in which muscle tone is lacking (flaccid paresis). These attacks
may be accompanied by increased levels of potassium in the blood in some
cases but not in others.
Paramyotonia Congenita is usually apparent during infancy and is not
progressive. Patients with this disorder do not have wasting of muscles
(atrophy) or an increase of muscle bulk (hypertrophy).
Causes
Paramyotonia Congenita is inherited as an autosomal dominant trait. Human
traits, including the classic genetic diseases, are the product of the
interaction of two genes, one received from the father and one from the
mother. In dominant disorders a single copy of the disease gene (received
from either the mother or father) will be expressed "dominating" the other
normal gene and resulting in the appearance of the disease. The risk of
transmitting the disorder from affected parent to offspring is fifty percent
for each pregnancy regardless of the sex of the resulting child.
Affected Population
Paramyotonia Congenita is a very rare disorder that affects males and females
in equal numbers. Three large families with multiple generations of affected
members have accounted for at least 60 patients with Paramyotonia Congenita.
Related Disorders
Symptoms of the following disorders can be similar to those of Paramyotonia
Congenita. Comparisons may be useful for a differential diagnosis:
Hyperkalemic Periodic Paralysis is rare disorder inherited as an
autosomal dominant trait and typically detected during infancy. This
disorder is characterized by periodic muscle weakness with or without muscles
that do not relax after contracting (myotonia). Patients may have attacks
once a week or several times a day. Typically the periods of muscle
weakness last from one half an hour to an hour. This weakness may be found
in the calves or thighs of the legs, lower back, arms, neck and/or eyelids.
Periods of muscle weakness usually follow rest after exercise, hunger,
infection, exposure to the cold and/or emotional stress. Permanent weakness
and wasting of muscles may develop later on.
Myotonic Dystrophy is a rare disorder inherited as an autosomal dominant
trait. This disorder involves the muscles, vision, and endocrine glands.
Myotonic Dystrophy usually begins during young adulthood and is marked
initially by an inability to relax muscles after contraction. Loss of muscle
strength, mental deficiency, cataracts, reduction of testicular function, and
frontal baldness are also symptomatic of this disorder. (For more
information on this disorder, choose "Myotonic Dystrophy" as your search term
in the Rare Disease Database).
Thomsen Disease is a rare disorder inherited as an autosomal dominant
trait. This neuromuscular disorder usually begins early in life. Difficulty
in initiating movement combined with slowness of muscle relaxation are the
primary symptoms. Muscle stiffness of the entire body may also occur.
Thomsen Disease is generally a nonprogressive disorder. (For more
information on this disorder, choose "Thomsen Disease" as your search term in
the Rare Disease Database).
Therapies: Standard
Some patients with Paramyotonia Congenita may benefit from acetazolamide or
thiazide diuretic drugs to reduce the number of paralytic attacks.
Treatment with the drug tocainide may help reduce the cold-induced
symptoms in some patients.
Genetic counseling may be of benefit for patients and their families.
Other treatment is symptomatic and supportive.
Therapies: Investigational
Research on birth defects and their causes is ongoing. The National
Institutes of Health (NIH) is sponsoring the Human Genome Project which is
aimed at mapping every gene in the human body and learning why they sometimes
malfunction. It is hoped that this new knowledge will lead to prevention and
treatment of genetic disorders in the future.
This disease entry is based upon medical information available through
April 1992. Since NORD's resources are limited, it is not possible to keep
every entry in the Rare Disease Database completely current and accurate.
Please check with the agencies listed in the Resources section for the most
current information about this disorder.
Resources
For more information on Paramyotonia Congenita, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
The National Arthritis and Musculoskeletal and Skin Diseases Information
Clearinghouse
Box AMS
Bethesda, MD 20892
(301) 495-4484
For Genetic Information and Genetic Counseling Referrals:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns
Hopkins University Press, 1990. Pp. 708.
CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H.
Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 2284.
BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief;
Blackwell Scientific Publications, 1990. Pp. 1365-66.
PRINCIPLES OF NEUROLOGY, 4th Ed.; Raymond D. Adams, M.D. and Maurice
Victor, M.D., Editors; McGraw-Hill Information Services Company, 1989. Pp.
1163.
PARAMYOTONIA CONGENITA OR HYPERKALEMIC PERIODIC PARALYSIS? CLINICAL AND
ELECTROPHYSIOLOGICAL FEATURES OF EACH ENTITY IN ONE FAMILY: S.M. de Silva,
et al.; Muscle Nerve (January, 1990, issue 13(1)). Pp. 21-6.