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what is 'ataxia-telangiectasia - progressive neurological disorder with small dilated blood vessels on skin '?
Definition for ataxia-telangiectasia
Telangiectasias are small, red 'spider' veins. These typically appear on the surface of the ears and cheeks or in the corners of the eyes in patients with AT.
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Telangiectasias are small, red 'spider' veins. These typically appear on the surface of the ears and cheeks or in the corners of the eyes in patients with AT. The 'ataxia' part of the name refers to the difficulty patients with AT have walking. At early age, the child's walking becomes wobbley, at teens handicapped-bound and at the early 20s, it becomes fatal.
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do i have 'ataxia-telangiectasia'?
In addition the following diagnostic tests might be need to help verify the diagnosis:
diagnostic test search results for 'ataxia-telangiectasia'
1 - 5 of
34
diagnostic tests
Carcinoembryonic Antigen (CEA)
ataxia-telangiectasia and Carcinoembryonic Antigen (CEA)
Molecular Genetic Studies
ataxia-telangiectasia and Molecular Genetic Studies
Serum alpha-fetoprotein (AFP)
ataxia-telangiectasia and Serum alpha-fetoprotein (AFP)
T cell counts
ataxia-telangiectasia and T cell counts
T-cell function
ataxia-telangiectasia and T-cell function
Blood, Platelet Count
Platelet Count
ataxia-telangiectasia and Blood, Platelet Count
Brain MRI
ataxia-telangiectasia and Brain MRI
Chest X-ray
Radiological technique to image the chest
ataxia-telangiectasia and Chest X-ray
Complete Blood Count
ataxia-telangiectasia and Complete Blood Count
EEG - Electroencephalogram
ataxia-telangiectasia and EEG - Electroencephalogram
serum IgG
ataxia-telangiectasia and serum IgG
serum IgG subclasses
ataxia-telangiectasia and serum IgG subclasses
serum IgM
ataxia-telangiectasia and serum IgM
serum immunoglobulins
ataxia-telangiectasia and serum immunoglobulins
Serum IgA
ataxia-telangiectasia and Serum IgA
Serum IgE
ataxia-telangiectasia and Serum IgE
Electromyogram (EMG)
ataxia-telangiectasia and Electromyogram (EMG)
Nerve conduction studies (NCS)
ataxia-telangiectasia and Nerve conduction studies (NCS)
B cell count
ataxia-telangiectasia and B cell count
B cell function
ataxia-telangiectasia and B cell function
Chromosomal analysis
ataxia-telangiectasia and Chromosomal analysis
EKG
Electrocardiogram
ataxia-telangiectasia and EKG
Glucose Tolerance Test
A test for diabetes
ataxia-telangiectasia and Glucose Tolerance Test
Urinalysis
Examination of urine to detect disease
ataxia-telangiectasia and Urinalysis
Complementation analysis
ataxia-telangiectasia and Complementation analysis
DNA repair studies
ataxia-telangiectasia and DNA repair studies
IR and RDS sensitivity analysis
ataxia-telangiectasia and IR and RDS sensitivity analysis
Immunoelectrophoresis
ataxia-telangiectasia and Immunoelectrophoresis
Saccade test
ataxia-telangiectasia and Saccade test
T-cell responses to mitogens
ataxia-telangiectasia and T-cell responses to mitogens
T-cell subsets CD3, CD4, CD8
ataxia-telangiectasia and T-cell subsets CD3, CD4, CD8
chromosomal breakage studies
ataxia-telangiectasia and chromosomal breakage studies
chromosomally abnormal T cell clone
ataxia-telangiectasia and chromosomally abnormal T cell clone
diepoxybutane (DEB) stimulation
ataxia-telangiectasia and diepoxybutane (DEB) stimulation
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therapeutic procedures for 'ataxia-telangiectasia'?
Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for ataxia-telangiectasia:
therapeutic procedure search results for 'ataxia-telangiectasia'
1 - 3 of
3
therapeutic procedures
rankings are computer generated. please consult your health care provider.
Physical and Occupational Therapy
Arthritis Physical and Occupational Therapy
ataxia-telangiectasia and Physical and Occupational Therapy
Hematopoietic stem cell transplantation
ataxia-telangiectasia and Hematopoietic stem cell transplantation
Histocompatibility testing
ataxia-telangiectasia and Histocompatibility testing
medications search results for 'ataxia-telangiectasia'
rankings are computer generated. please consult your health care provider.
web search results for 'ataxia-telangiectasia'?
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- ataxia-telangiectasia
Ataxia-telangiectasia - Genetics Home Reference
Ataxia-telangiectasia is a rare inherited ... Mutations in the ATM gene cause ataxia-telangiectasia. ... MedlinePlus Encyclopedia: Ataxia-telangiectasia ...
http://ghr.nlm.nih.gov/condition=ataxiatelangiectasia
ghr.nlm.nih.gov
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summary
Ataxia-Telangiectasia: Immunodeficiency Disorders: Merck Manual Home ...
Introduction·Ataxia-Telangiectasia· Chronic Granulomatous Disease· Chronic ... Ataxia-telangiectasia usually progresses to paralysis, dementia, and death, ...
http://www.merck.com/mmhe/sec16/ch184/ch184b.html
www.merck.com
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Ataxia-Telangiectasia -- GeneReviews -- NCBI Bookshelf
ATM (ataxia-telangiectasia mutated) is the only gene known to be associated with ... Establishing the diagnosis of ataxia-telangiectasia is most difficult in very ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ataxia-telangiectas
www.ncbi.nlm.nih.gov
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Ataxia-Telangiectasia
Ataxia-telangiectasia (A-T) is characterized by progressive ... Establishing the diagnosis of ataxia-telangiectasia is most difficult in very young children, ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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Ataxia-Telangiectasia: Immunodeficiency Disorders: Merck Manual Home ...
Ataxia-telangiectasia is a hereditary disorder characterized by incoordination, ... Ataxia-telangiectasia usually progresses to paralysis, dementia, and death, ...
http://www.merck.com/mmhe/print/sec16/ch184/ch184b.html
www.merck.com
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Ataxia-Telangiectasia: Immunodeficiency Disorders: Merck Manual ...
... With Suspected Immunodeficiency·Ataxia-Telangiectasia· Chédiak-Higashi Syndrome ... Ataxia-telangiectasia results from a T-cell defect and causes progressive ...
http://www.merck.com/mmpe/sec13/ch164/ch164c.html
www.merck.com
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Mortality rates among carriers of ataxia-telangiectasia mutant alleles.
BACKGROUND: Mutations at the ataxia-telangiectasia locus cause a distinctive ... PARTICIPANTS: 405 grandparents of patients with ataxia-telangiectasia. ...
http://www.ncbi.nlm.nih.gov/pubmed/11085839?dopt=Citation
www.ncbi.nlm.nih.gov
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Ataxia-telangiectasia - References - Genetics Home Reference
Ataxia-telangiectasia, an evolving phenotype. DNA Repair (Amst) ... Hall J. The Ataxia-telangiectasia mutated gene and breast cancer: gene ...
http://ghr.nlm.nih.gov/condition=ataxiatelangiectasia/show/References
ghr.nlm.nih.gov
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summary
Ataxia-Telangiectasia: Immunodeficiency Disorders: Merck Manual ...
Immunology; Allergic Disorders. Subject. Immunodeficiency Disorders. Ataxia-Telangiectasia. Ataxia-telangiectasia results from a T-cell defect and causes progressive ...
http://www.merck.com/mmpe/print/sec13/ch164/ch164c.html
www.merck.com
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Ataxia-telangiectasia in Iran: clinical and laboratory features of 104 ...
Ataxia-telangiectasia is a multisystem disorder characterized by progressive ... The incidence of ataxia-telangiectasia in Iran is high, possibly due to familial ...
http://www.ncbi.nlm.nih.gov/pubmed/17628218
www.ncbi.nlm.nih.gov
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Ataxia Telangiectasia Information Page: National Institute of ...
Ataxia telangiectasia (A-T) information page compiled by the National Institute of Neurological Disorders and Stroke (NINDS) ... for Ataxia-Telangiectasia ...
http://www.ninds.nih.gov/disorders/a_t/a-t.htm
www.ninds.nih.gov
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MedlinePlus: Ataxia Telangiectasia
Ataxia Telangiectasia(National Institute of Neurological Disorders and ... Home Reference: Ataxia-telangiectasia(National Library ... Ataxia ...
http://www.nlm.nih.gov/medlineplus/ataxiatelangiectasia.html
www.nlm.nih.gov
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Ataxia-telangiectasia or Louis-Bar syndrome.
Ataxia-telangiectasia or Louis-Bar syndrome. Smith LL, Conerly SL. Ataxia-telangiectasia (A-T) is a clinical syndrome that commonly shows ...
http://www.ncbi.nlm.nih.gov/pubmed/2580869
www.ncbi.nlm.nih.gov
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Ataxia - telangiectasia
Ataxia-telangiectasia is inherited, which means it is passed down through families. ... Ataxia Telangiectasia Children's Project - www.atcp.org ...
http://adam.about.com/encyclopedia/infectiousdiseases/Ataxia-telangiectasia.htm
adam.about.com
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summary
MedlinePlus Medical Encyclopedia: Ataxia - telangiectasia
Ataxia-telangiectasia is inherited, which means it is passed down through families. ... Ataxia Telangiectasia Children's Project - www.atcp.org ...
http://www.nlm.nih.gov/medlineplus/ency/article/001394.htm
www.nlm.nih.gov
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Ataxia Telangiectasia
Important It is possible that the main title of the report Ataxia Telangiectasia is not the name you expected. Please check the synonyms listing to find the ...
http://www.webmd.com/brain/ataxia-telangiectasia
www.webmd.com
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ATM - ataxia telangiectasia mutated - Genetics Home Reference
The official name of this gene is "ataxia telangiectasia mutated. ... ataxia-telangiectasia - caused by mutations in the ATM gene ...
http://ghr.nlm.nih.gov/gene=atm
ghr.nlm.nih.gov
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Nuclear protein, ataxia-telangiectasia locus (NPAT)
Human protein-coding gene NPAT. Represented by 139 ESTs from 83 cDNA libraries. ... Homo sapiens nuclear protein, ataxia-telangiectasia locus, mRNA (cDNA clone ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=171061
www.ncbi.nlm.nih.gov
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Ataxia Telangiectasia - Yahoo! Health
Important It is possible that the main title of the report Ataxia Telangiectasia is not the name you expected. Please check the synonyms listing to find the ...
http://health.yahoo.com/other-other/ataxia-telangiectasia/he...
health.yahoo.com
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MedlinePlus Enciclopedia Médica: Ataxia-telangiectasia
Ataxia se refiere a movimientos descoordinados, como caminar, y telangiectasia ... La ataxia-telangiectasia es hereditaria, lo cual significa que se trasmite de ...
http://www.nlm.nih.gov/medlineplus/spanish/ency/article/001394.htm
www.nlm.nih.gov
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ATAXIA-TELANGIECTASIA - Pedbase.org
PEDBASE.org - The Pediatric Database - Detailed information of ATAXIA-TELANGIECTASIA ... Pedbase.org. Powered by Database of Pediatrics- ATAXIA-TELANGIECTASIA ...
http://pedbase.org/a/ataxia-telangiectasia/
pedbase.org
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Ataxia - telangiectasia
Ataxia-telangiectasia is an inherited disorder that affects many tissues and ... A B C D E F G H I J K L M N O P Q R S T U V W X Y Z. Ataxia - telangiectasia ...
http://adam.about.com/encyclopedia/001394sym.htm
adam.about.com
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Ataxia Telangiectasia
Ataxia telangiectasia (A-T) is a rare, progressive, neurodegenerative childhood ... Ataxia Telangiectasia (A-T) Children's Project. 668 South Military Trail ...
http://my.clevelandclinic.org/disorders/Ataxia_Telangiectasi...
my.clevelandclinic.org
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Ataxia Telangiectasia Press Releases: National Institute of ...
Ataxia telangiectasia (A-T) information page compiled by the National Institute of Neurological Disorders ... Home " Disorders A - Z " Ataxia Telangiectasia " ...
http://www.ninds.nih.gov/disorders/a_t/press_a-t.htm
www.ninds.nih.gov
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Health Library - Avera Health
Ataxia-telangiectasia is inherited, which means it is passed down through families. ... Ataxia Telangiectasia Children's Project - www.atcp.org ...
http://averaorg.adam.com/content.aspx?productId=101&pid=1&gid=001394
averaorg.adam.com
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Selective Immunoglobulin Deficiency: Immunodeficiency Disorders: Merck ...
Introduction· Ataxia-Telangiectasia· Chronic Granulomatous Disease· Chronic ... ataxia-telangiectasia. candidiasis. cutaneous. granuloma. granulomatous ...
http://www.merck.com/mmhe/sec16/ch184/ch184h.html
www.merck.com
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summary
Ataxias and Cerebellar or Spinocerebellar Degeneration Information Page ...
Ataxias and Cerebellar/Spinocerebellar Degeneration information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS)
http://www.ninds.nih.gov/disorders/ataxia/ataxia.htm
www.ninds.nih.gov
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Blood/lymphatic system - Genetics Home Reference
A-T see ataxia-telangiectasia. abetalipoproteinemia. acanthocytosis see ... Louis-Bar syndrome see ataxia-telangiectasia. lymphedema-distichiasis syndrome ...
http://ghr.nlm.nih.gov/conditionCategory=bloodlymphaticsystem
ghr.nlm.nih.gov
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Orphanet: Ataxia telangiectasia
The portal for rare diseases ... Ataxia-telangiectasia. Orpha number. ORPHA100. Prevalence of rare ... Ataxia-Telangiectasia (A-T) is the association of ...
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=100
www.orpha.net
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Coordination Disorders: Movement Disorders: Merck Manual Home Edition
ataxia-telangiectasia. athetosis. atrophy. cerebellum ... Friedreich's ataxia. hemorrhage. hypothyroidism. myoclonus. phenytoin. sclerosis. telangiectasia ...
http://www.merck.com/mmhe/sec06/ch091/ch091k.html
www.merck.com
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Skin, hair, and nails - Genetics Home Reference
A-T see ataxia-telangiectasia. AAT see alpha-1 antitrypsin deficiency ... Louis-Bar syndrome see ataxia-telangiectasia ... see ataxia-telangiectasia ...
http://ghr.nlm.nih.gov/conditionCategory=skinhairandnails
ghr.nlm.nih.gov
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[Ataxia telangiectasia (Louis-Bar syndrome)]
1: Riv Neurol. 1977 Jan-Feb;47(1):41-57. [Ataxia telangiectasia (Louis-Bar syndrome) ... relate on a case of ataxia-telangiectasia, where appeared all the signs of ...
http://www.ncbi.nlm.nih.gov/pubmed/323953
www.ncbi.nlm.nih.gov
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Ataxia Telangiectasia (A-T) Children's Project: National Institute of ...
Ataxia Telangiectasia (A-T) Children's Project. 668 South Military Trail ... at finding a cure for ataxia telangiectasia, a lethal childhood genetic disease. ...
http://www.ninds.nih.gov/find_people/voluntary_orgs/volorg16.htm
www.ninds.nih.gov
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MedlinePlus Medical Encyclopedia: Movement - uncoordinated
Paraneoplastic syndromes (ataxia may appear months or years before cancer is ... cerebellar ataxia, Friedreich's ataxia, ataxia telangiectasia, Wilson's disease) ...
http://www.nlm.nih.gov/medlineplus/ency/article/003198.htm
www.nlm.nih.gov
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Ataxia telangiectasia - Wikipedia, the free encyclopedia
"Ataxia-telangiectasia: eMedicine Ophthalmology" ... A single Ataxia-Telangiectasia gene with a product similar to PI-3 kinase" ...
http://en.wikipedia.org/wiki/Ataxia_telangiectasia
en.wikipedia.org
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Ataxia telangiectasia
Genes and Disease provides an introduction to the relationship between genetic factors and human disease with a summary of ~60 genetic diseases with links to related ...
http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..Show...
www.ncbi.nlm.nih.gov
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MedlinePlus Medical Encyclopedia: Telangiectasia
Ataxia - telangiectasia. Bloom syndrome. Cutis marmorata telangiectatica congenita. Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) ...
http://www.nlm.nih.gov/medlineplus/ency/article/003284.htm
www.nlm.nih.gov
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Introduction: Immunodeficiency Disorders: Merck Manual Home Edition
Introduction· Ataxia-Telangiectasia· Chronic Granulomatous Disease· Chronic ... ataxia-telangiectasia. azathioprine. candidiasis. carbamazepine. chronic ...
http://www.merck.com/mmhe/sec16/ch184/ch184a.html
www.merck.com
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Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ...
Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, ... oculocutaneous telangiectasia and frequent pulmonary infection. BODER E, ...
http://www.ncbi.nlm.nih.gov/pubmed/13542097
www.ncbi.nlm.nih.gov
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PMID 3239952
Ataxia-ocular motor apraxia: a syndrome mimicking ataxia-telangiectasia. ... signs were indistinguishable from those of ataxia-telangiectasia, the ...
http://www.ncbi.nlm.nih.gov/pubmed/3239952
www.ncbi.nlm.nih.gov
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Immune system - Genetics Home Reference
A-T see ataxia-telangiectasia. ADA deficiency see adenosine deaminase deficiency ... Louis-Bar syndrome see ataxia-telangiectasia ...
http://ghr.nlm.nih.gov/conditionCategory=immunesystem
ghr.nlm.nih.gov
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Ataxia: Causes - MayoClinic.com
Ataxia â?" Comprehensive overview covers causes and treatments for this lack of muscle coordination. ... Ataxia-telangiectasia. ...
http://www.mayoclinic.com/health/ataxia/DS00910/DSECTION=causes
www.mayoclinic.com
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BLOOM SYNDROME - Pedbase.org
first year (telangiectasia) risk factors: familial - autosomal recessive ... Ataxia-Telangiectasia. Fanconi Anemia. Xeroderma Pigmentosum. 2. Genetic Defect ...
http://pedbase.org/b/bloom-syndrome/
pedbase.org
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Pleiotropic defects in ataxia-telangiectasia protein-deficient mice.
... generated a mouse model for ataxia-telangiectasia by using gene targeting to ... ataxia telangiectasia mutated protein. Protein-Serine-Threonine Kinases ...
http://www.ncbi.nlm.nih.gov/pubmed/8917548
www.ncbi.nlm.nih.gov
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Tumors Linked to Fetal Stem Cell Transplant - Cancer Information ...
Information on many different cancers includes symptoms, ... a rare neurodegenerative disease, ataxia telangiectasia, that also weakens the immune system. ...
http://www.medicinenet.com/guide.asp?s=rss&a=97833&k=Brain_Cancer_Specialty
www.medicinenet.com
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Common Variable Immunodeficiency: Immunodeficiency Disorders: Merck ...
Introduction· Ataxia-Telangiectasia· Chronic Granulomatous Disease· Chronic ... ataxia-telangiectasia. candidiasis. corticosteroid. cutaneous. granuloma ...
http://www.merck.com/mmhe/sec16/ch184/ch184e.html
www.merck.com
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Movement - uncoordinated
Paraneoplastic syndromes (ataxia may appear months or years before cancer is ... cerebellar ataxia, Friedreich's ataxia, ataxia telangiectasia, Wilson's disease) ...
http://adam.about.com/encyclopedia/Movement-uncoordinated.htm
adam.about.com
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Leukemia and lymphoma in ataxia telangiectasia.
Leukemia and lymphoma in ataxia telangiectasia. Taylor AM, Metcalfe JA, Thick J, Mak YF. ... Ataxia Telangiectasia/immunology. Child. Child, Preschool ...
http://www.ncbi.nlm.nih.gov/pubmed/8555463
www.ncbi.nlm.nih.gov
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MedlinePlus: Movement Disorders
Ataxia Telangiectasia. Dystonia. Muscle Disorders. Neuromuscular Disorders. Parkinson's Disease ... Home Reference: Episodic ataxia(National Library of ...
http://www.nlm.nih.gov/medlineplus/movementdisorders.html
www.nlm.nih.gov
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Encyclopedia A-Az on Yahoo! Health
Health encyclopedia of diseases and conditions covering symptoms, definitions, alternative names, causes, ... Ataxia. Ataxia Telangiectasia. Ataxia ...
http://health.yahoo.com/health/ency/adam/000821/i9478
health.yahoo.com
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quick facts
category
dermatology
genetic or congenital
neurology
frequency
uncommon (U.S.)
likelihood by age
likelyhood by duration of symptoms
some common symptoms
abnormal gait
dilated blood vessels in multiple areas
poor coordination
red eye(s)
some related diagnoses
drugs and toxins
Parkinsonism
diabetic neuropathy
alcoholic cerebellar degeneration
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family practitioner
internist
neurologist
neurosurgeon
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