$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.