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967 Possible Causes for Charcot-Marie-Tooth Disease Type 1

  • Hereditary Areflexic Dystasia

    Definition Autosomal dominant disorder that resembles Charcot-Marie-Tooth disease type 1 in that it presents with foot deformity, weakness and atrophy of distal limb muscles[uniprot.org] The hypothesis that RLS is not a disease entity but a hypertrophic-type of Charcot-Marie-Tooth disease with essential tremor (HMSN type 1) is strongly supported.[unboundmedicine.com] Get Update Overview Roussy Levy syndrome is an autosomal dominant disease with the clinical characteristics of Charcot-Marie-Tooth (CMT) disease type 1 plus a static tremor[diseaseinfosearch.org]

  • Charcot-Marie-Tooth Disease

    Mutations in the gap junction protein beta 1 gene (GJB1) cause X-linked Charcot-Marie-Tooth disease type 1 (CMTX1).[ncbi.nlm.nih.gov] Our genetic and clinical findings in these kindred demonstrate that dominant PMP2 mutations cause Charcot-Marie-Tooth disease type 1. The Author (2016).[ncbi.nlm.nih.gov] The white matter changes in MRI of X-linked Charcot-Marie-Tooth disease type 1 patient are reversible.[ncbi.nlm.nih.gov]

  • Charcot-Marie-Tooth Disease Type 2S

    Numakura C, Lin C, Oka N, Akiguchi I, Hayasaka K: Hemizygous mutation of the peripheral myelin protein 22 gene associated with Charcot-Marie-Tooth disease type 1 .[link.springer.com] Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study.[acnr.co.uk] How do people inherit Charcot-Marie-Tooth disease? The pattern of inheritance varies with the type of Charcot-Marie-Tooth disease.[medicalmarijuana.com]

  • Hereditary Motor and Sensory Neuropathy

    […] the peripheral nervous system Approximate Synonyms Charcot marie tooth disease Charcot marie tooth disease, type 1 Charcot marie tooth disease, type 2 Charcot marie tooth[icd10data.com] Charcot-Marie Tooth Disease Types 1 & 2 CMT is usually divided into types 1 and 2, depending on which part of the peripheral nerve is affected.[foundationforpn.org] Type 1 Charcot-Marie-Tooth disease (CMT1) is characterized by abnormalities in myelin, the fatty substance that covers nerve cells, protecting them and helping to conduct[icdlist.com]

  • Neuropathy

    The most common of these is Charcot-Marie- Tooth disease type 1.[webmd.com] Charcot-Marie-Tooth disease (type 1), Guillain-Barre syndrome, chronic inflammatory demyelinating polyneuropathy (CIDP), multifocal motor neuropathy (MMN) Predominantly autonomic[precisionhealth.com.au] Hereditary neuropathies are diseases of the peripheral nerves that are genetically passed from parent to child.[webmd.com]

  • Muscular Dystrophy-Dystroglycanopathy Type C7

    Centronuclear myopathy Charcot-Marie-Tooth disease type 1 Charcot-Marie-Tooth disease type 1A Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease type 1C Charcot-Marie-Tooth[se-atlas.de] disease X-linked Charcot-Marie-Tooth disease type 1 X-linked Charcot-Marie-Tooth disease type 2 X-linked Charcot-Marie-Tooth disease type 3 X-linked Charcot-Marie-Tooth disease[se-atlas.de] Progressive familial intrahepatic cholestasis 1 Charcot-Marie-Tooth disease Bare lymphocyte syndrome 2 Short rib-polydactyly syndrome type 1 Encephalocraniocutaneous lipomatosis[checkrare.com]

  • Inherited Neuropathy

    Abstract Mutations in myelin genes cause inherited peripheral neuropathies that range in severity from adult-onset Charcot-Marie-Tooth disease type 1 to childhood-onset Dejerine-Sottas[ncbi.nlm.nih.gov] The 1990s also saw the identification of other Charcot-Marie-Tooth genes: myelin protein zero for Charcot-Marie-Tooth disease type 1 and type 3 ( Hayasaka et al 1993 ; Kulkens[medlink.com] The most common of these is Charcot-Marie- Tooth disease type 1.[webmd.com]

  • Déjerine-Sottas Disease

    Nature Genet. 1, 176–179 (1992). 19 Lupski, J.R. et al. Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A.[nature.com] […] of Charcot-Marie-Tooth disease types 1 and 2.[healthunlocked.com] […] the peripheral nervous system Approximate Synonyms Charcot marie tooth disease Charcot marie tooth disease, type 1 Charcot marie tooth disease, type 2 Charcot marie tooth[icd10data.com]

  • Distal Hereditary Motor Neuropathy

    The distal HMN shows similarities with the hereditary motor and sensory neuropathies type I and II (HMSN I and HMSN II) or Charcot-Marie-Tooth disease type 1 and 2 (CMT 1[ncbi.nlm.nih.gov] […] the peripheral nervous system Approximate Synonyms Charcot marie tooth disease Charcot marie tooth disease, type 1 Charcot marie tooth disease, type 2 Charcot marie tooth[icd10data.com] Screening of the early growth response 2 gene in Japanese patients with Charcot-Marie-Tooth disease type 1. J Neurol Sci. 2003. 210:61- 64.[emedicine.medscape.com]

  • Hereditary Sensory Neuropathy

    […] the peripheral nervous system Approximate Synonyms Charcot marie tooth disease Charcot marie tooth disease, type 1 Charcot marie tooth disease, type 2 Charcot marie tooth[icd10data.com] The most common of these is Charcot-Marie- Tooth disease type 1.[webmd.com] Screening of the early growth response 2 gene in Japanese patients with Charcot-Marie-Tooth disease type 1. J Neurol Sci. 2003. 210:61- 64.[emedicine.medscape.com]

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