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$Unique_ID{BRK03443}
$Pretitle{}
$Title{Alper's Disease}
$Subject{Alper's Disease Alpers Diffuse Degeneration of Cerebral Gray Matter
With Hepatic Cirrhosis Poliodystrophia Cerebri Progressiva Alpers Progressive
Infantile Poliodystrophy Progressive Poliodystrophy Myoclonic Epilepsy Leigh's
Disease Wernicke Encephalopathy Batten Disease Tay-Sachs Disease}
$Volume{}
$Log{}
Copyright (C) 1989 National Organization for Rare Disorders, Inc.
610:
Alper's Disease
** IMPORTANT **
It is possible that the main title of the article (Alper's 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
Alpers Diffuse Degeneration of Cerebral Gray Matter With Hepatic
Cirrhosis
Poliodystrophia Cerebri Progressiva
Alpers Progressive Infantile Poliodystrophy
Progressive Poliodystrophy
Information on the following diseases can be found in the Related
Disorders section of this report:
Myoclonic Epilepsy
Leigh's Disease
Wernicke Encephalopathy
Batten Disease
Tay-Sachs Disease
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.
Alper's Disease is a progressive neurologic (brain) disorder that occurs
early in life. Symptoms include increased muscle tone with exaggerated
reflexes (spasticity), seizures, loss of cognitive ability (dementia) and in
many cases liver disease.
Symptoms
Alper's Disease usually begins during early childhood. It is characterized
by retardation of motor movement, partial paralysis, seizures, muscle
twitching, liver damage and increased density of the grey matter in the
brain. Intractable seizures and progressive loss of cognitive ability
(dementia) may also occur. Symptoms of the disease may be intensified by
stress or other illnesses.
Causes
The exact cause of Alper's Disease is not known. Researchers have been
unable to determine whether or not it is inherited or acquired, or if it
involves a metabolic defect.
Affected Population
Alper's Disease affects males and females in equal numbers usually during
early childhood.
Related Disorders
Symptoms of the following disorders can be similar to those of Alper's
Disease. Comparisons may be useful for a differential diagnosis:
Myoclonic Epilepsy is a hereditary neurologic disorder inherited through
recessive genes. It is characterized by sudden brief contractions of groups
of muscles. Onset is usually between the ages of six and sixteen. During
the initial period of seizures there is loss of consciousness. After years
of attacks of increasing frequency and severity, spasms involving the muscles
of the face, trunk, arms, and legs intensify. Untreated, this type of
epilepsy can lead to progressive dementia. (For more information on this
disorder, choose "Epilepsy" as your search term in the Rare Disease
Database).
Leigh's Disease is a genetic metabolic disorder characterized by lesions
of the brain, spinal cord, optic nerve and in some cases, an enlarged heart.
The disorder is usually first diagnosed during infancy but may begin later.
Symptoms during infancy may include low body weight, slow growth, tremors,
skin changes and interrupted breathing patterns. Progressive neurological
disturbances, mental retardation, slurred speech and loss of motor
coordination (ataxia) may occur. Abnormalities of eye movement and other
vision problems may develop in cases with later onset. (For more information
on this disorder, choose "Leigh" as your search term in the Rare Disease
Database).
Wernicke Encephalopathy is a degenerative brain disorder characterized by
a deficiency of thiamine. It is marked by loss of coordination (ataxia) and
apathy, confusion, disorientation or delirium. Various vision dysfunctions
may also develop. This disorder often occurs in conjunction with Korsakoff
Syndrome which involves a Vitamin B1 (thiamine) deficiency usually caused by
alcoholism. Wernicke Encephalopathy can be severely disabling and life
threatening if it is not recognized and treated early. (For more information
on this disorder, choose "Korsakoff" as your search term in the Rare Disease
Database).
Batten Disease is a hereditary lipid storage disorder transmitted as a
recessive trait. It is characterized by rapidly progressive vision failure
(optic atrophy), deterioration of intellect, seizures, loss of muscular
coordination (ataxia) and a backward lateral curvature of the spinal column
(kyphoscoliosis). Occurring mostly in white families of Northern European
Scandinavian ancestry, Batten Disease usually begins between five and seven
years of age. (For more information on this disorder, choose "Batten" as
your search term in the Rare Disease Database).
Tay-Sachs Disease is a genetic disorder in children that causes the
progressive destruction of the central nervous system. It is generally found
among children of eastern European Jewish heritage. Infants with Tay-Sachs
Disease appear normal at birth and seem to develop normally until the age of
about six months. The first signs of the disease vary and become evident at
different ages. These signs may include slowed development, loss of
peripheral vision, abnormal startle response, progression of feeding
difficulties, weakness, restlessness and cherry red spots on the retina. At
the age of one year, recurrent convulsions, loss of previously learned skills
and muscle coordination, blindness, mental retardation, flaccidity and/or
paralysis may occur. This disorder is inherited as a recessive trait. (For
more information on this disorder, choose "Tay-Sachs" as your search term in
the Rare Disease Database).
Therapies: Standard
Treatment of Alper's Disease is symptomatic and supportive.
Therapies: Investigational
This disease entry is based upon medical information available through April
1989. 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 Alper's Disease, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Association for Neurometabolic Disorders
5223 Brookfield Lane
Sylvania, OH 43506-1809
(419) 885-1497
Children's Brain Diseases Foundation for Research
350 Parnassus, Suite 900
San Francisco, CA 94117
(415) 566-5402
(415) 565-6259
NIH/National Institute of Neurological Disorders & Stroke (NINDS)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5751
(800) 352-9424
References
MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins
University Press, 1986. Pp. 818.
PROGRESSIVE INFANTILE POLIODYSTROPHY (Alper's DISEASE) WITH A DEFECT IN
CITRIC ACID CYCLE ACTIVITY IN LIVER AND FIBROBLASTS. M.J. Prick, et al.;
Neuropediatrics (May, 1982, issue 13 (2)). Pp. 108-111.
PROGRESSIVE NEURONAL DEGENERATION OF CHILDHOOD WITH LIVER DISEASE
(Alper's DISEASE): CHARACTERISTIC NEUROPHYSIOLOGICAL FEATURES. S.G. Boyd, et
al.; Neuropediatrics (May, 1986, issue 17(2)). Pp. 75-80.
PROGRESSIVE POLIODYSTROPHY (Alper's DISEASE) WITH A DEFECT IN CYTOCHROME
aa3 IN MUSCLE; A REPORT OF TWO UNRELATED PATIENTS. M.J. Prick, et al.; Clin
Neurol Neurosurg (1983, issue 85 (1)). Pp. 57-70.