から減少の結果

664 B

105 M

14 M

440

349

to ~93 options

options split into images, definition, symptoms, related diagnoses, diagnostic tests, therapies, and medications

カテゴリ 先天性遺伝子オレゴン, neurology 周波数 珍しい (U.S.)

年齢によって起こりやすくなります

症状のある期間で可能

関連医師の種類 family practitioner internist neurologist neurosurgeon 郵便番号 して下さいローカル その結果、コンピュータを見つけるのに役立つ場合は医師のアドバイスに生成される. MEDgleを完了させるかは、プロバイダとの専門医師やクレームの正確な提案では特定のタイプをお勧めしていません.

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Inc., a U.S. registered 501(c)(3) tax-deductible nonprofit charity. ... http://en.wikipedia.org/wiki/Hereditary_sensory_motor_neuropathy   en.wikipedia.org - summary Neuropathy, Hereditary Sensory, Type IV ... possible that the main title of the report Neuropathy, Hereditary Sensory, Type IV is not the name you expected. ... may involve sensory, motor, reflex, or ... http://www.webmd.com/brain/neuropathy-hereditary-sensory-type-iv   www.webmd.com - summary Hereditary Sensory Neuropathy Type I -- GeneReviews -- NCBI Bookshelf ... of hereditary motor and sensory neuropathy distinguished by ... hereditary sensory neuropathy type I (HSN-I) maps to chromosome 9q22.1-q22.3. Nat Genet. ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hsn1   www.ncbi.nlm.nih.gov - summary Hereditary sensory and autonomic neuropathy - Wikipedia, the free ... Not to be confused with Hereditary motor and sensory neuropathy. ... and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I) ... http://en.wikipedia.org/wiki/Hereditary_Sensory_Radicular_Neuropathy   en.wikipedia.org - summary Hereditary Sensory Neuropathy Type I ... hereditary motor and sensory neuropathy, HMSN II) with dense sensory loss. ... hereditary sensory neuropathy type I (HSN-I) maps to chromosome 9q22.1-q22.3. Nat ... http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...   www.ncbi.nlm.nih.gov - summary Orphanet: Hereditary sensory and autonomic neuropathy, type 1 ... confirm a sensory and motor neuropathy predominantly affecting the ... Reproduced from Hereditary sensory neuropathy type I. Orphanet J Rare Dis.2008; 3:7. ... http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=36386   www.orpha.net - summary Hereditary motor and sensory neuropathy with proximal dominancy in the ... Hereditary motor and sensory neuropathy with proximal dominancy in the lower ... Although nine chromosomes (1, 3, 4, 5, 6, 10, 17, 19, and 22) had at least one ... http://www.ncbi.nlm.nih.gov/pubmed/18662816?ordinalpos=1&ito...   www.ncbi.nlm.nih.gov - summary Charcot-Marie-Tooth disease - Genetics Home Reference Worldwide, this disorder affects about 1 in 3,300 people. ... hereditary motor and sensory neuropathy. HMSN. Peroneal Muscular Atrophy. PMA ... http://ghr.nlm.nih.gov/condition=charcotmarietoothdisease   ghr.nlm.nih.gov - summary Peripheral Neuropathy: Peripheral Nervous System and Motor Unit ... A sensory deficit in the palmar aspect of the first 3 fingers may follow, and ... early in the disorder and rarely affect the proximal 1?3 of the limb or trunk ... http://www.merck.com/mmpe/print/sec16/ch223/ch223h.html   www.merck.com - summary N-myc downstream-regulated gene 1 is mutated in hereditary motor and ... N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom. ... mapped to 8q24.3, where conserved disease haplotypes ... http://www.ncbi.nlm.nih.gov/pubmed/10831399   www.ncbi.nlm.nih.gov - summary MedlinePlus: Charcot-Marie-Tooth Disease Also called: Hereditary motor and sensory neuropathy, Peroneal muscular atrophy ... United States, CMT affects about 1 in 3,300 people. CMT affects your ... http://www.nlm.nih.gov/medlineplus/charcotmarietoothdisease.html   www.nlm.nih.gov - summary Hereditary motor-sensory neuropathy and movement disorders. 1: Muscle Nerve. 1993 Sep;16(9):904-10. Hereditary motor-sensory neuropathy and movement disorders. ... 6, rest tremor in 3, and Parkinsonism and dystonia in ... http://www.ncbi.nlm.nih.gov/pubmed/8355721   www.ncbi.nlm.nih.gov - summary Hereditary motor and sensory neuropathy--Lom (HMSNL): refined genetic ... Hereditary motor and sensory neuropathy type Lom, initially identified in Roma ... mapping and the minimal region of homozygosity reduced the original 3 cM ... http://www.ncbi.nlm.nih.gov/pubmed/11053686?ordinalpos=1&ito...   www.ncbi.nlm.nih.gov - summary Brain and nervous system - Genetics Home Reference Der(22) syndrome due to 3:1 meiotic disjunction events see Emanuel syndrome ... hereditary motor and sensory neuropathy see Charcot-Marie-Tooth disease ... http://www.ghr.nlm.nih.gov/conditionCategory=brainandnervoussystem   www.ghr.nlm.nih.gov - summary Hereditary sensory neuropathy type I. 1: Orphanet J Rare Dis. 2008 Mar 18;3:7. Hereditary sensory neuropathy type I. Auer-Grumbach M. ... a sensory and motor neuropathy predominantly affecting ... http://www.ncbi.nlm.nih.gov/pubmed/18348718   www.ncbi.nlm.nih.gov - summary WebMD Health A-Z - Find reliable health and medical information on ... Hereditary Hyperuricemia and Choreoathet... Hereditary Motor Sensory Neuropathy ... 1. Trans Fat Foods. 2. Masturbation & Cancer. 3. Why People Skip Sex. 4 ... http://www.webmd.com/a-to-z-guides/health-topics/ha-he.htm   www.webmd.com - summary Acc - NextBio ... transporter 3 (KCC3) is mutated in hereditary motor and sensory neuropathy with ... Used by over 1,000,000 researchers and clinicians worldwide. NextBio ... http://www.nextbio.com/b/home/home.nb?q=ACC   www.nextbio.com - summary Genetic heterogeneity in autosomal recessive hereditary motor and ... 1: Neurology. 1998 Mar; ... recessive hereditary motor and sensory neuropathy with focally ... Hereditary motor and sensory neuropathy with focally folded ... http://www.ncbi.nlm.nih.gov/pubmed/9521281   www.ncbi.nlm.nih.gov - summary Andermann syndrome - Genetics Home Reference ... typically begin walking between ages 3 and 4 and lose this ability ... hereditary motor and sensory neuropathy with agenesis of the corpus callosum. HMSN/ACC ... http://ghr.nlm.nih.gov/condition=andermannsyndrome   ghr.nlm.nih.gov - summary Manual dexterity in hereditary motor and sensory neuropathy type 1a ... 1: J Rehabil Med. 2008 Feb;40(2):132-6. Manual dexterity in hereditary motor and sensory ... that differences greater than 3 points can be interpreted as ... http://www.ncbi.nlm.nih.gov/pubmed/18509578   www.ncbi.nlm.nih.gov - summary Information on charcot marie tooth disease and brain disorders at ... 1. 2. 3. 4. 5. 6. 7. Next " Charcot-Marie-Tooth-Disease Index. Glossary. Charcot ... also known as hereditary motor and sensory neuropathy (HMSN) or peroneal ... http://www.medicinenet.com/charcot-marie-tooth-disease/article.htm   www.medicinenet.com - summary Mutation analysis of 12 candidate genes for distal hereditary motor ... ... for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3. ... Hereditary Motor and Sensory Neuropathies/genetics* Humans. Linkage ... http://www.ncbi.nlm.nih.gov/pubmed/12090300   www.ncbi.nlm.nih.gov - summary Peripheral neuropathy - Wikipedia, the free encyclopedia 2.1 Generalized peripheral neuropathy. 3 Signs and symptoms. 4 Treatment. 5 ... develop approaches for assessing sensory and motor disturbances in patients so ... http://en.wikipedia.org/wiki/Peripheral_neuropathy   en.wikipedia.org - summary Spastic paraplegia type 7 - Genetics Home Reference ... pain in the arms and legs (sensory neuropathy); disturbance in the nerves used for muscle movement (motor neuropathy); and muscle wasting (amyotrophy) ... http://ghr.nlm.nih.gov/condition=spasticparaplegia7?wf=1   ghr.nlm.nih.gov - summary Hereditary Motor and Sensory Neuropathy ? Lom Hereditary Motor and Sensory Neuropathy ? Lom. Author: Professor ... downstream regulated gene 1 is mutated in. hereditary motor and sensory neuropathy-Lom. ... http://www.orpha.net/data/patho/GB/uk-HMSNL.pdf   www.orpha.net - summary Charcot-Marie-Tooth Neuropathy Type 2 Tooth hereditary neuropathy type 1 (CMT1) but instead shows loss of myelinated fibers with ... HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC. 606595 ... http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...   www.ncbi.nlm.nih.gov - summary MIM Gene map Neuropathy, hereditary motor and sensory, Russe type. 605285 ... Glutamate dehydrogenase-1. 138130. Hyperinsulinism-hyperammonemia syndrome, 606762 (3) ... http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l604982   www.ncbi.nlm.nih.gov - summary Charcot-Marie-Tooth Neuropathy Type 1 Charcot-Marie-Tooth Neuropathy Type 1 [CMT1, HMSN1, Hereditary Motor and Sensory Neuropathy 1] ... 3. GeneReviews: Charcot-Marie-Tooth Neuropathy Type 1 ... http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...   www.ncbi.nlm.nih.gov - summary Mutation of the SBF2 gene, encoding a novel member of the myotubularin ... 2003 Feb 1;12(3):349-56. Erratum in: Hum Mol Genet. 2004 Feb 1;13(3):363. ... Autosomal recessive hereditary motor and sensory neuropathy or Charcot-Marie ... http://www.ncbi.nlm.nih.gov/pubmed/12554688   www.ncbi.nlm.nih.gov - summary Andermann syndrome - References - Genetics Home Reference Hereditary motor and sensory neuropathy with agenesis of the corpus callosum. Ann Neurol. ... 2002 Nov;32(3):384-92. Epub 2002 Oct 7. Erratum in: Nat Genet ... http://ghr.nlm.nih.gov/condition=andermannsyndrome/show/References   ghr.nlm.nih.gov - summary Hereditary Neuropathy with Liability to Pressure Palsies -- GeneReviews ... ... motor/sensory neuropathy mimicking Charcot-Marie-Tooth Neuropathy Type 1 (CMT1) ... compression neuropathy and an unexplained polyneuropathy, or (3) one ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hnpp   www.ncbi.nlm.nih.gov - summary Charcot-Marie-Tooth Neuropathy Type 1 -- GeneReviews -- NCBI Bookshelf Charcot-Marie-Tooth Neuropathy Type 1 [CMT1, HMSN1, Hereditary Motor and Sensory Neuropathy 1] ... the effects of neurotrophin-3 on individuals with CMT1A. ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=cmt1   www.ncbi.nlm.nih.gov - summary De novo mutation of the myelin P0 gene in Dejerine-Sottas disease ... 1: Nat Genet. 1993 Nov;5(3):266-8. ... (hereditary motor and sensory neuropathy ... disease or hereditary motor and sensory neuropathy (HMSN) type III. We found ... http://www.ncbi.nlm.nih.gov/pubmed/7506095   www.ncbi.nlm.nih.gov - summary OMIM Update List for August, 2003 600361 HEREDITARY MOTOR AND SENSORY NEUROPATHY V. 601311 STEROL ... HEREDITARY MOTOR AND SENSORY ... PROTEIN COMPLEX 3, BETA-1 SUBUNIT; AP3B1 ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?8.2003   www.ncbi.nlm.nih.gov - summary Charcot-Marie-Tooth disease - Wikipedia, the free encyclopedia ... as Hereditary Motor and Sensory Neuropathy (HMSN), Hereditary Sensorimotor ... 1 Description. 2 Symptoms. 3 Diagnosis. 4 Types of the ... 16p13.1-p12.3 ... http://en.wikipedia.org/wiki/Charcot-Marie-Tooth_disease   en.wikipedia.org - summary MIM Gene map 3q13.1. HMSNO, HMSNP. Neuropathy, hereditary motor and sensory, Okinawa type. 604484 ... 3p12.1. VGLL3, VGL3. Vestigial-like 3. 609980. REc. 3q13.1-q13.2. CD47, ... http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l258900   www.ncbi.nlm.nih.gov - summary Familial Dysautonomia -- GeneReviews -- NCBI Bookshelf Orthostatic hypotension without compensatory tachycardia 1, 3. Supine hypertension 1 ... form of hereditary motor and sensory neuropathy distinguished by prominent ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=fd   www.ncbi.nlm.nih.gov - summary Hereditary Spastic Paraplegia Overview -- GeneReviews -- NCBI Bookshelf SPG9 (10q23.3-q24.1) Complicated. Childhood through adulthood ... hearing, scoliosis, pes cavus, motor and sensory neuropathy, and amyotrophy. ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hsp   www.ncbi.nlm.nih.gov - summary Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain ... ... long chain base subunit-1, cause hereditary sensory neuropathy type I. ... degeneration of dorsal root ganglia and motor neurons with onset in the second ... http://www.ncbi.nlm.nih.gov/pubmed/11242114   www.ncbi.nlm.nih.gov - summary HMSN/ACC truncation mutations disrupt brain-type creatine kinase ... 1: Hum Mol Genet. 2008 Sep 1;17(17):2703-11. Epub 2008 Jun 19. ... transporter 3 (KCC3) is mutated in hereditary motor and sensory neuropathy with ... http://www.ncbi.nlm.nih.gov/pubmed/18566107   www.ncbi.nlm.nih.gov - summary Chromosome 3 (human) - Wikipedia, the free encyclopedia Neuropathy, hereditary motor and sensory, Okinawa type. Night blindness ... 1 ˇ 2 ˇ 3 ˇ 4 ˇ 5 ˇ 6 ˇ 7 ˇ 8 ˇ 9 ˇ 10 ˇ 11 ˇ 12 ˇ 13 ˇ 14 ˇ 15 ˇ 16 ˇ 17 ˇ 18 ... http://en.wikipedia.org/wiki/Chromosome_3_(human)   en.wikipedia.org - summary Motor Neuron Disorders: Peripheral Nervous System and Motor Unit ... ... Barré Syndrome (GBS)ˇ Hereditary NeuropathiesˇMotor Neuron Disordersˇ Myasthenia ... complications due to aspiration frequently result in death within 1 to 3 yr. ... http://www.merck.com/mmpe/sec16/ch223/ch223e.html   www.merck.com - summary NOV - NextBio Hereditary sensory-motor ... Hereditary sensory-motor neuropathy. Hereditary spastic parapl... mus musculus "previous 1 2 3 4 ... 86 next" show: 10 20 50 ... http://www.nextbio.com/b/home/home.nb?q=Nov   www.nextbio.com - summary Hereditary Neuropathy with Liability to Pressure Palsies sensory and motor neuropathy in a single nerve beginning in adolescence or young ... Page 3. GeneReviews: Hereditary Neuropathy with Liability to Pressure ... http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...   www.ncbi.nlm.nih.gov - summary OMIM Update List for January, 2000 ... NEUROPATHY, HEREDITARY MOTOR AND SENSORY, ... 162500 NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE ... CONTAINING T-COMPLEX 1, SUBUNIT 3; CCT3 ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?1.2000   www.ncbi.nlm.nih.gov - summary OMIM Update List for October, 2006 610362 RETINA AND ANTERIOR NEURAL FOLD HOMEOBOX-LIKE 1; RAXL1 ... Clinical Synopsis for 601152 HEREDITARY MOTOR AND SENSORY NEUROPATHY VI ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?10.2006   www.ncbi.nlm.nih.gov - summary NIH Peripheral Neuropathy Conference: National Institute of ... ... Marie-Tooth disease (CMT) or Hereditary Motor and Sensory Neuropathy (HMSN) ... 1. Therapies that target sensory and/or motor neurons in a mechanistic manner. ... http://www.ninds.nih.gov/news_and_events/proceedings/10_2006...   www.ninds.nih.gov - summary OMIM Update List for March, 2004 602681 FORKHEAD IN RHABDOMYOSARCOMA-LIKE 1; FOXO3A. 602913 POLO-LIKE KINASE 3; PLK3 ... 604484 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, OKINAWA TYPE ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?3.2004   www.ncbi.nlm.nih.gov - summary HSPB8 - Wikipedia, the free encyclopedia Hereditary motor and sensory neuropathy type II. Clinicopathological study of a family. ... 1 (3): 287?92. doi:10.1093/embo-reports/kvd058. PMID 11256614. Yu ... http://en.wikipedia.org/wiki/HSPB8   en.wikipedia.org - summary もっと表示 1  2