ALPERS' PROGRESSIVE INFANTILE POLIODYSTROPHY Features listed for this disorder.Category Health Conditions and Diseases AlpersFeatures Listed For ALPERS' progressive infantile poliodystrophy.McKusick 203700. Abnormal liver (including function); Ataxia; Broad http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?63
Extractions: Diffuse cortical sclerosis, familial degeneration of the cerebral grey matter in childhood, poliodysplasia cerebri, poliodystrophia cerebri progressiva, poliodystrophia progressiva corticalis, poliodystrophia cerebri progressiva infantilis, progressive cerebral degeneration in infancy, progressive cerebral poliodystrophy, progressive infantile poliodystrophy, progressive poliodystrophy. A rare degenerative disease of the brain, predominantly involving the grey matter. It is characterised by acute onset of severe convulsions leading to rapid intellectual and bodily breakdown. Other characteristics are blindness and deafness, myoclonus, spasticity, choroathetosis, cerebellar ataxia, growth retardation, and terminal decortication. Manifests in early childhood and usually causes death within months. In its familial form, the disorder is transmitted as an autosomal recessive trait.
Mitochondrial Information Information provided for and by The Childrens Mitochondrial Disease NetworkAlpers Disease progressive infantile poliodystrophy Barth Syndrome - Lethal http://www.emdn-mitonet.co.uk/info.htm
Extractions: The UMDF Medical Article List Subject: Alpers Disease (Progressive Infantile Poliodystrophy) Back to the Subject List United Mitochondrial Disease Foundation We welcome any suggested additions to our list. Last updated: 26-Jun-98 REFERENCE FORMAT: Author Lastname; Firstname; Article Number; Article Title; Journal or Book; Year; Volume; Page Numbers Frydman ; M ; 1997* ; Alpers progressive infantile neuronal poliodystrophy: an acute neonatal form with findings of the fetal akinesia syndrome. ; American Journal of Medical Genetics ; 1993 ; 47(1) ; 31-6 Montine ; TJ ; 3814 ; Alpers' syndrome presenting with seizures and multiple stroke-like episodes in a 17-year-old male. ; Clin Neuropathol ; 1995 ; 14(6) ; 322-326 Narkewicz ; MR ; 2004 ; Liver involvement in Alpers disease. ; Journal of Pediatrics ; 1991 ; 119(2) ; 260-7 Wilson ; DC ; 1998* ; Progressive neuronal degeneration of childhood (Alpers syndrome) with hepatic cirrhosis. ; European Journal of Pediatrics ; 1993 ; 152(3) ; 260-2 Worle ; H ; 6380 ; Progressive cerebral degeneration of childhood with liver disease (Alpers Huttenlocher disease) with cytochrome oxidase deficiency presenting with epilepsia partialis continua as the first clinical manifestation. ; Clin Neuropathol ; 1998 ; 17(2) ; 63-8
University Of Miami School Of Medicine Product, gene Progeny Progeria Progesterone Prognathism Prognosis Programmed celldeath Progressive progressive infantile poliodystrophy Progressive multifocal http://www.med.miami.edu/patients/glossary/list.asp?L=P&T=DICT
Mitochondrial Diseases with them. Some of the ones listed include Alpers Disease. Long nameprogressive infantile poliodystrophy. Symptoms seizures, dementia http://www.tsbvi.edu/Outreach/seehear/spring02/mitochondrial.htm
Extractions: http://www.umdf.org/ SEE/HEAR Editor's note: A number of children in Texas who are visually impaired or deafblind have as the cause of their sensory loss, Mitochondrial diseases. In order to understand more about these diseases, I visited the United Mitochondrial Disease Foundation website. I learned that we have a great opportunity in Texas to learn more about these diseases because their 5th International Conference on Mitochondrial Diseases will be held this year in Dallas. I want to thank the UMDF for letting me excerpt portions of the wealth of information they provide on their website to share with our SEE/HEAR readers. I encourage you to visit this website if you have a child with a Mitochondrial disease or if you are a teacher working with one of these children. Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the life of the person in whom this is happening is severely compromised. The disease primarily affects children, but adult onset is becoming more and more common.
NORD - National Organization For Rare Disorders, Inc. Alpers progressive infantile poliodystrophy; Diffuse Cerebral Degeneration in Infancy;Poliodystrophia Cerebri Progressiva; Progressive Cerebral Poliodystrophy. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Alpers Diseas
Terms & Definitions ADVOCATE One who supports or defends a cause. One who pleads on behalfof another. ALPER DISEASE progressive infantile poliodystrophy. http://www.umdf.org/mitodisease/definitions.html
Extractions: ESSENTIAL PREFIXES: ESSENTIAL SUFFIXES: DEFINITIONS: ACIDOSIS: Elevated amounts of organic acids in the blood, which accumulate when food is not properly metabolized. ADP : Adenosine diphosphate; the low energy product produced when ATP releases energy to the cell. ADVOCATE: One who supports or defends a cause. One who pleads on behalf of another. ALPER DISEASE: Progressive Infantile Poliodystrophy. Cases of Alper disease may be caused by disorders of oxidative phosphorylation, including mitochondrial DNA depletion syndromes APHASIA: Impaired or absent language function, usually referring to speech; which results from an injury to brain structures usually in the dominant hemisphere (the side of the brain that controls language function is usually the side opposite to the handedness of the person and is referred to as the dominant hemisphere by definition)
United Mitochondrial Disease Foundation alpers progressive infantile poliodystrophy barth cardiomyopathy neutropeniabeta oxidation defects carnitine deficiency chronic progressive external http://www.medhelp.org/amshc/amshc454.htm
Extractions: Title: Foundation for Nager and Miller Syndromes Description: Networking for families that are affected by Nager or Miller Syndromes. Provides referrals, library of information, phone support, newsletter, brochures, scholarships for Camp About Face. Scope: International Founded: Address: c/o Margaret Ieronimo
IComm: File Not Found! Different alleles produce variations in inherited characteristics such as eyecolor or blood type. Alper Disease progressive infantile poliodystrophy. http://www.icomm.ca/geneinfo/glos-a.htm
Extractions: The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only they do not constitute endorsements of those other sites. Home Contact Us Privacy Links Directory