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1994-01-17
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$Unique_ID{BRK03577}
$Pretitle{}
$Title{Central Core Disease}
$Subject{Central Core Disease Muscle Core Disease Nonprogressive Congenital
Myopathy}
$Volume{}
$Log{}
Copyright (C) 1986, 1990, 1992 National Organization for Rare Disorders,
Inc.
148:
Central Core Disease
** IMPORTANT **
It is possible that the main title of the article (Central Core Disease)
is not the name you expected. Please check the SYNONYM listing to find the
alternate names and disorder subdivisions covered by this article.
Synonyms
Muscle Core Disease
Nonprogressive Congenital Myopathy
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.
Central Core Disease is an inherited muscular disorder characterized by
weakness of muscles during early childhood. The legs are usually most
severely affected and the hips may be dislocated. The disease does not
progress and by about the age of six years, most children can walk. The
disease derives its name from the presence of an abnormal core in each
microscopic muscle fiber.
Symptoms
Central Core Disease becomes evident at birth or soon afterwards. The thigh
and upper arm muscles are weak and soft, with diminished tone. The muscles
may also appear slightly thin. Patients have difficulty sitting upright or
walking. By school age, however, they have overcome these problems; as
adults, they may have slight weakness of the lower extremities as well as
running and jumping.
Patients seem to be unusually susceptible to malignant hyperthermia,
characterized by a dangerous increase in body temperature in response to
anesthesia during surgery, and reflecting abnormal increased metabolism in
muscle tissue.
There may be a lack of nerve response in the muscles as some of the nerve
development in the muscles is usually observed. Biochemical and mineral
deficiencies are sometimes noticed in patients with Central Core Disease.
Causes
Central Core Disease usually follows an autosomal dominant inheritance.
Occasionally, the disease seems to be inherited recessively.
Human traits including the classic genetic diseases, are the product of
the interaction of two genes for that condition, one received from the father
and one from the mother.
In autosomal dominant disorders, a single abnormal gene, contributed by
either parent, "overrides" the normal gene contributed by the other parent
causing disease. Individuals with one affected parent have a 50% chance of
inheriting the disorder. Males and females are affected in equal numbers.
In recessive disorders, the condition does not appear unless a person
inherits the same defective gene from each parent. If one receives one
normal gene and one gene for the disease, the person will be a carrier for
the disease, but usually will show no symptoms. The risk of transmitting the
disease to the children of a couple, both of whom are carriers for a
recessive disorder, is twenty-five percent. Fifty percent of their children
will be carriers, but healthy as described above. Twenty-five percent of
their children will receive both normal genes, one from each parent and will
be genetically normal.
The biochemical abnormality causing muscular weakness and the presence of
the core in the muscle fibers is not known.
Related Disorders
Nemaline myopathy is a more severe muscular disorder that sometimes occurs in
the same families as Central Core Disease. Different muscles are affected,
their microscopic appearance is not the same, and the prognosis is poorer in
nemaline myopathy.
Therapies: Standard
Treatment of Central Core Disease is symptomatic and supportive. Symptoms of
the disorder often improve as the child gets older.
Therapies: Investigational
This disease entry is based upon medical information available through
September 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 Central Core Disease, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
NIH/National Institute of Neurological Disorders & Stroke (NINDS)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5751
(800) 352-9424
Muscular Dystrophy Association, National Office
3300 E. Sunrise Dr.
Tucson, AZ 85718
(602) 529-2000
For information on genetics and genetic counseling referrals, please
contact:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plain, 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
THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme
Research Laboratories, 1987. P. 1452.
MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins
University Press, 1986. P. 136.