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hereditary periodic ataxia - inherited problems with coordination Definition for hereditary periodic ataxia Episodic ataxia (EA) is an autosomal dominant disorder characterized by sporadic bouts of ataxia (severe discoordination) with or without myokymia (continuous muscle movement). more Episodic ataxia (EA) is an autosomal dominant disorder characterized by sporadic bouts of ataxia (severe discoordination) with or without myokymia (continuous muscle movement). Ataxia can be provoked by stress, startle, or heavy exertion such as exercise. Symptoms can first appear in infancy. There are at least 6 loci for EA, of which 4 are known genes. Some patients with EA also have migraine or progressive cerebellar degenerative disorders, symptomatic of either familial hemiplegic migraine or spinocerebellar ataxia. Some patients respond to acetazolamide though others do not. less some common symptoms abnormal gait difficulty speaking poor coordination slurred speech some related diagnoses 1 - 7 of 119 diagnoses intracranial tumor subdural hematoma head injury neuroleptic induced movement disorder Parkinsonism transient ischemic attacks Guillain-Barre Syndrome   more do i have 'hereditary periodic ataxia'? In addition the following diagnostic tests might be need to help verify the diagnosis: diagnostic test search results for 'hereditary periodic ataxia' 1 - 4 of 4 diagnostic tests Molecular Genetic Studies hereditary periodic ataxia and Molecular Genetic Studies Electromyogram (EMG) hereditary periodic ataxia and Electromyogram (EMG) Nerve conduction studies (NCS) hereditary periodic ataxia and Nerve conduction studies (NCS) Muscle biopsy hereditary periodic ataxia and Muscle biopsy therapeutic procedures for 'hereditary periodic ataxia'? 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 hereditary periodic ataxia: therapeutic procedure search results for 'hereditary periodic ataxia' rankings are computer generated. please consult your health care provider. medications search results for 'hereditary periodic ataxia' 1 - 1 of 1 medications rankings are computer generated. please consult your health care provider.   acetazolamide hereditary periodic ataxia and acetazolamide web search results for hereditary periodic ataxia Web (All)  |  Treatment  |  Drugs  |  Tests  |  Research  |  Diet Results 1 - 50 - hereditary periodic ataxia Hereditary Ataxia Overview -- GeneReviews -- NCBI Bookshelf Clinical manifestations of hereditary ataxia are poor coordination of movement ... family with EA3 (periodic vestibulocerebellar ataxia with defective smooth pursuit) ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ataxias   www.ncbi.nlm.nih.gov - summary Episodic ataxia - Wikipedia, the free encyclopedia ... hereditary paroxysmal cerebellopathy, familial paroxysmal ataxia and ... known as periodic vestibulocerebellar ataxia, type-4 episodic ataxia (EA4) is an ... http://en.wikipedia.org/wiki/Episodic_ataxia   en.wikipedia.org - summary Blood/lymphatic system - Genetics Home Reference Hereditary Periodic Fever Syndromes see familial Mediterranean fever ... Louis-Bar syndrome see ataxia-telangiectasia. lymphedema-distichiasis syndrome ... http://ghr.nlm.nih.gov/conditionCategory=bloodlymphaticsystem   ghr.nlm.nih.gov - summary Search Results Familial Mediterranean Fever: Hereditary Periodic Fever ... Fragile Xâ?"associated tremor/ataxia syndrome is a genetic disorder affecting mostly. ... http://www.merck.com/mrksearch/SearchServlet?filtN=professio...   www.merck.com - summary Immune system - Genetics Home Reference A-T see ataxia-telangiectasia. ADA deficiency see adenosine ... Hereditary Periodic Fever Syndromes see familial ... see ataxia-telangiectasia ... http://www.ghr.nlm.nih.gov/ghr/conditionsByCategory/show/immunesystem   www.ghr.nlm.nih.gov - summary MedlinePlus Medical Encyclopedia: Muscle biopsy ... Marie-Tooth disease (hereditary) Common peroneal nerve ... Familial periodic paralysis. Friedreich's ataxia. Polymyalgia rheumatica. Senile cardiac amyloid ... http://www.nlm.nih.gov/medlineplus/ency/article/003924.htm   www.nlm.nih.gov - summary KCNA1 - NextBio ... in this gene have been associated with myokymia with periodic ataxia (AEMK). view more " ... Mouse Phenotypes - Autosomal dominant hereditary disorder ... http://www.nextbio.com/b/home/home.nb?q=KCNA1   www.nextbio.com - summary Disorders Index: National Institute of Neurological Disorders and ... Familial Periodic Paralyses. Familial Spastic Paralysis. Farber's Disease. Febrile Seizures ... Friedreich's Ataxia. Frontotemporal Dementia ... http://www.ninds.nih.gov/disorders   www.ninds.nih.gov - summary Bones, muscles, and connective tissues - Genetics Home Reference Andersen cardiodysrhythmic periodic paralysis see Andersen-Tawil ... Exostoses, Multiple Hereditary see hereditary multiple exostoses. FA see Friedreich ataxia ... http://ghr.nlm.nih.gov/ghr/conditionsByCategory/show/bonesmu...   ghr.nlm.nih.gov - summary Episodic Ataxia Type 2 -- GeneReviews -- NCBI Bookshelf Vestibulo-cerebellar ataxia: a newly defined hereditary syndrome with periodic manifestations. ... Hereditary myokymia and periodic ataxia. J Neurol Sci. 1975; ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ea2   www.ncbi.nlm.nih.gov - summary Muscle biopsy ... Marie-Tooth disease (hereditary) Common peroneal nerve ... Familial periodic paralysis. Friedreich's ataxia. Polymyalgia rheumatica. Senile cardiac amyloid ... http://adam.about.com/encyclopedia/003924res.htm   adam.about.com - summary Episodic Ataxia Type 2 Hereditary myokymia and periodic ataxia. J. Neurol Sci. 1975;25:109?18. [PubMed: 1170284 ... responsive hereditary paryoxysmal cerebellar ataxia to chromosome ... http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...   www.ncbi.nlm.nih.gov - summary Haemochromatosis - Wikipedia, the free encyclopedia Those with hereditary anemias such as beta-thalassemia major, sickle cell anemia, ... Idiopathic hemochromatosis (IHC): dementia and ataxia as presenting signs" ... http://en.wikipedia.org/wiki/Hereditary_hemochromatosis   en.wikipedia.org - summary Brain and nervous system - Genetics Home Reference Hereditary spinal ataxia see Friedreich ataxia. Hereditary Spinal Sclerosis see Friedreich ataxia ... Periodic vomiting see cyclic vomiting syndrome ... http://ghr.nlm.nih.gov/ghr/conditionsByCategory/show/brainandnervoussystem   ghr.nlm.nih.gov - summary Restless legs syndrome and related disorders The medical term for periodic limb movement disorder (PLMD) is nocturnal ... Hereditary ataxia, a group of genetic diseases that affects the central nervous ... http://adam.about.com/reports/Restless-legs-syndrome-and-related-disorders.htm   adam.about.com - summary NLM Classification Index H Hereditary Periodic Fever Syndromes see Familial Mediterranean Fever ... Hereditary Spinal Sclerosis see Friedreich Ataxia. Heredity QZ 50 ... http://www.nlm.nih.gov/class/index_h.html   www.nlm.nih.gov - summary Neurologic Diseases - Genetics Home Reference autosomal recessive spastic ataxia of Charlevoix-Saguenay. beta-ketothiolase deficiency ... Leber hereditary optic neuropathy. Lesch-Nyhan syndrome ... http://ghr.nlm.nih.gov/medlineplusTopic=neurologicdiseases   ghr.nlm.nih.gov - summary OMIM Update List for March, 1996 125310 DEMENTIA, HEREDITARY MULTI-INFARCT TYPE ... 160120 MYOKYMIA WITH PERIODIC ATAXIA. 160900 DYSTROPHIA MYOTONICA; DM ... 183085 SPINOCEREBELLAR ATAXIA 3; SCA3 ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?3.1996   www.ncbi.nlm.nih.gov - summary Neuromuscular Disorders - Genetics Home Reference hereditary neuropathy with liability to pressure palsies. hyperkalemic periodic paralysis ... neuropathy, ataxia, and retinitis pigmentosa. oculopharyngeal ... http://ghr.nlm.nih.gov/medlineplusTopic=neuromusculardisorders   ghr.nlm.nih.gov - summary Dementia Glossary of Terms with Definitions on MedicineNet.com One form of hereditary Parkinson disease is due to mutations in SNCA. ... Ataxia: Wobbliness. ... Migraine: Usually, periodic attacks of headaches on one or ... http://www.medicinenet.com/dementia/glossary.htm   www.medicinenet.com - summary OMIM Update List for December, 2001 108500 ATAXIA, PERIODIC VESTIBULOCEREBELLAR. 111700 RHESUS BLOOD GROUP, CcEe ANTIGENS; RHCE ... TREMOR, HEREDITARY ESSENTIAL, 1; ETM1. 208920 ATAXIA-OCULOMOTOR ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?12.2001   www.ncbi.nlm.nih.gov - summary Tyrosinemia - Genetics Home Reference ... seizures, and periodic loss of balance and coordination (intermittent ataxia) ... Hereditary Tyrosinemias. Hypertyrosinemia. See How are genetic conditions ... http://ghr.nlm.nih.gov/condition=tyrosinemia   ghr.nlm.nih.gov - summary OMIM Update List for May, 1998 159900 MYOCLONUS, HEREDITARY ESSENTIAL. 160120 MYOKYMIA WITH PERIODIC ATAXIA ... 601518 PROSTATE CANCER, HEREDITARY 1 ... 208900 ATAXIA-TELANGIECTASIA; AT ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?5.1998   www.ncbi.nlm.nih.gov - summary Replaced Medical Subject Headings Hereditary Sensory and Autonomic Neuropathies. Niemann-Pick Disease (P) Niemann-Pick Diseases ... Periodic Disease (P) Familial Mediterranean Fever. Peripheral ... http://www.nlm.nih.gov/mesh/replaced2000.html   www.nlm.nih.gov - summary NINDS Disorders: National Institute of Neurological Disorders and ... Ataxia Telangiectasia. Ataxias and Cerebellar or Spinocerebellar Degeneration ... Familial Periodic Paralyses. Farber's Disease. Febrile Seizures ... http://www.ninds.nih.gov/disorders/xml_index_RSS.xml   www.ninds.nih.gov - summary Heart and circulation - Genetics Home Reference Andersen cardiodysrhythmic periodic paralysis see ... Hereditary spinal ataxia see Friedreich ataxia. Hereditary Spinal Sclerosis see Friedreich ataxia ... http://ghr.nlm.nih.gov/conditionCategory=heartandcirculation   ghr.nlm.nih.gov - summary OMIM Update List for April, 1996 ... DEMENTIA, HEREDITARY MULTI ... MYOKYMIA WITH PERIODIC ATAXIA. 160900 DYSTROPHIA ... 160120 MYOKYMIA WITH PERIODIC ATAXIA. 162060 GROWTH ASSOCIATED ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?4.1996   www.ncbi.nlm.nih.gov - summary Prion Diseases: Brain Infections: Merck Manual Professional Although dementia, ataxia, and myoclonus are most characteristic, other ... EEG may show characteristic periodic sharp waves. Brain biopsy is usually unnecessary. ... http://www.merck.com/mmpe/sec16/ch217/ch217e.html   www.merck.com - summary Metabolic Disorders - Genetics Home Reference hyperkalemic periodic paralysis. hypermethioninemia. hyperprolinemia ... neuropathy, ataxia, and retinitis pigmentosa. neutral lipid storage disease with myopathy ... http://ghr.nlm.nih.gov/conditionGroup=metabolicdisorders   ghr.nlm.nih.gov - summary Hereditary Folate Malabsorption -- GeneReviews -- NCBI Bookshelf ... to assess adequacy of treatment, periodic complete blood counts and measurements ... Cognitive impairment, ataxia and other movement disorders, and peripheral ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=folate-mal   www.ncbi.nlm.nih.gov - summary Spinocerebellar Ataxia Type 6 -- GeneReviews -- NCBI Bookshelf Hereditary forms of ataxia once known as Holmes type of cerebellar cortical ... Periodic alternating nystagmus and rebound nystagmus in spinocerebellar ataxia ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sca6   www.ncbi.nlm.nih.gov - summary New York Methodist Hospital Researchers believe that hereditary ataxia may supply clues to the genetic causes of RLS. ... the general population has periodic limb movement disorder (PLMD) ... http://nymethodist.adam.com/content.aspx?productId=10&pid=10&gid=000095   nymethodist.adam.com - summary OMIM Update List for July, 1996 Mini-MIM for 106100 ANGIONEUROTIC EDEMA, HEREDITARY; HANE ... Clinical Synopsis for 108500 ATAXIA, PERIODIC VESTIBULOCEREBELLAR ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?7.1996   www.ncbi.nlm.nih.gov - summary -- GeneReviews -- NCBI Bookshelf Hereditary Ataxia Overview Thomas D Bird Initial Posting: October 28, 1998Last ... Hypokalemic Periodic Paralysis HOKPP, HypoPP. ... http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowTOC&rid=gene.TOC   www.ncbi.nlm.nih.gov - summary WebMD Health A-Z - Find reliable health and medical information on ... Paraplegia, Hereditary Spastic. Parathyroid cancer: Treatment - Health P... Pellagra-Cerebellar Ataxia-Renal Aminoac... Pelletier-Leisti syndrome. Pelvic ... http://www.webmd.com/a-to-z-guides/health-topics/pa-pe.htm   www.webmd.com - summary Spinocerebellar Ataxia Type 20 -- GeneReviews -- NCBI Bookshelf Periodic speech assessment if dysphagia becomes a problem ... Hereditary branchial myoclonus with spastic paraparesis and cerebellar ataxia: a ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sca20   www.ncbi.nlm.nih.gov - summary Spinocerebellar Ataxia Type 20 Periodic speech assessment if dysphagia becomes a problem ... Hereditary branchial myoclonus with spastic paraparesis and cerebellar ataxia: ... http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...   www.ncbi.nlm.nih.gov - summary Genetic disorder - Wikipedia, the free encyclopedia SLC1A3 (Episodic ataxia 6) · SLC2A5 (Fructose malabsorption) · SLC3A1 ... Endoglin (Hereditary hemorrhagic telangiectasia) · TGFBR1/TGFBR2 (Loeys-Dietz syndrome) ... http://en.wikipedia.org/wiki/Genetic_disorder   en.wikipedia.org - summary National Institute of Neurological Disorders and Stroke (NINDS) Part of the U.S. National Institutes of Health which conducts and supports research on brain and nervous system disorders. Site features background information, neurological disorder index, research laboratories, funding details, press releases, as well as training and career development opportunities for clinician scientists. http://www.ninds.nih.gov/   www.ninds.nih.gov - summary OMIM Update List for January, 2001 164500 SPINOCEREBELLAR ATAXIA 7; SCA7. 170400 HYPOKALEMIC PERIODIC PARALYSIS; HOKPP ... 603528 DEHYDRATED HEREDITARY STOMATOCYTOSIS, PSEUDOHYPERKALEMIA, AND PERINATAL ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?1.2001   www.ncbi.nlm.nih.gov - summary OMIM Update List for December, 1996 307810 HYPOPHOSPHATEMIA, HEREDITARY, TYPE II ... HYPERFERRITINEMIA, HEREDITARY, WITH ... Clinical Synopsis for 108500 ATAXIA, PERIODIC VESTIBULOCEREBELLAR ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?12.1996   www.ncbi.nlm.nih.gov - summary List of diseases (H) - Wikipedia, the free encyclopedia Hereditary paroxysmal cerebral ataxia. Hereditary peripheral nervous disorder ... Hyperimmunoglobulinemia D with periodic fever. Hyperimmunoglobulinemia E ... http://en.wikipedia.org/wiki/List_of_diseases_(H)   en.wikipedia.org - summary Studies Seek Patients: NINDS Clinical Trials at NIH in Bethesda, MD ... Clinical trials are research studies on humans that are designed to answer ... The National Institutes of Health has developed ClinicalTrials.gov to provide ... http://www.ninds.nih.gov/disorders/clinicaltrials_ninds.htm   www.ninds.nih.gov - summary Spinocerebellar Ataxia Type 6 Hereditary forms of ataxia once known as Holmes type of cerebellar cortical degeneration, and ... Takei Y, Ikeda S. Periodic alternating nystagmus and rebound ... http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...   www.ncbi.nlm.nih.gov - summary List of genetic disorders - Wikipedia, the free encyclopedia Hereditary periodic fever syndrome. see Mediterranean fever, familial. Hereditary Polyposis Coli ... Hereditary spinal ataxia. see Friedreich ataxia ... http://en.wikipedia.org/wiki/List_of_genetic_disorders   en.wikipedia.org - summary Studies Seek Patients: Clinical Trials Across the U.S. and Canada ... Index page of NINDS Clinical Trials at Bethesda, Maryland. ... Clinical trials are research studies on humans that are designed to answer ... http://www.ninds.nih.gov/disorders/clinicaltrials_us.htm   www.ninds.nih.gov - summary Restless Legs Syndrome and Other Sleep-Related Leg Disorders RLS and periodic limb movement disorder in children are strongly associated with ... Hereditary ataxia, a group of genetic diseases that affect the central nervous ... http://adam.about.com/reports/000095_2.htm   adam.about.com - summary Diseases of Mitochondrial Metabolism ... ( Table 42-1 ); Leber's hereditary optic neuropathy ( LHON ), a disorder ... Some patients with periodic ataxia resulting from PDHC deficiency may respond to ... http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=bnchm.section.2972   www.ncbi.nlm.nih.gov - summary Novel PRNP sequence variant associated with familial encephalopathy. Hereditary TSEs are associated with mutations in the PRNP gene on chromosome 20p12-pter. ... limb and truncal ataxia, dysarthria, myoclonic jerks, and ... http://www.ncbi.nlm.nih.gov/pubmed/10581485   www.ncbi.nlm.nih.gov - summary Channelopathy - Wikipedia, the free encyclopedia Episodic Ataxia. Voltage-gated potassium channel. Erythromelalgia. Voltage-gated sodium channel ... Voltage-gated ion channels and hereditary disease". Physiol. Rev. ... http://en.wikipedia.org/wiki/Channelopathy   en.wikipedia.org - summary show more 1  2