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530 Possible Causes for Congenital Hypomyelinating Neuropathy

  • Déjerine-Sottas Disease

    They include Charcot-Marie-Tooth disease, Dejerine-Sottas disease, congenital hypomyelinating neuropathy and hereditary neuropathy with liability to pressure palsy.[ncbi.nlm.nih.gov] , consistent with congenital hypomyelination neuropathy (CHN).[ncbi.nlm.nih.gov] The retained P 0 might be the mechanism that causes congenital hypomyelinating neuropathy (CH).[bmcresnotes.biomedcentral.com]

  • Hypomyelinating Leukodystrophy Type 5

    Causes - Congenital hypomyelination neuropathy Not supplied. Prevention - Congenital hypomyelination neuropathy Not supplied.[checkorphan.org] Most people with hypomyelination and congenital cataract have reduced sensation in their arms and legs (peripheral neuropathy).[ghr.nlm.nih.gov] […] with congenital cataract 4H syndrome : hypomyelination, hypogonadotropic hypogonadism, and hypodontia Cockayne syndrome SOX10 (peripheral neuropathy, central hypomyelination[radiopaedia.org]

  • Distal Hereditary Motor Neuropathy Type 1

    DI-CMTB AD 19p12–p13.2 DYN2 DI-CMTC AD 1p34–p35 YARS RI-CMT AR 1p36.31 PLEKHG5 CMT3 (Dejerine–Sottas disease, congenital hypomyelinating neuropathy) AD 17p11.2 PMP22 AD 1q21[mhmedical.com] hypomyelination neuropathy (with hypotonia at birth) and congenital hypomyelination neuropathy, life expectancy may be only a few months Essential features Atrophic myofibers[pathologyoutlines.com] hypomyelination neuropathy and CMT1D ( Warner et al 1998 ).[medlink.com]

  • Distal Hereditary Motor Neuropathy Type 5

    DI-CMTB AD 19p12–p13.2 DYN2 DI-CMTC AD 1p34–p35 YARS RI-CMT AR 1p36.31 PLEKHG5 CMT3 (Dejerine–Sottas disease, congenital hypomyelinating neuropathy) AD 17p11.2 PMP22 AD 1q21[mhmedical.com] MTMR2 (recessive) Onset before 3yr age with delayed motor development, severe Weakness, atrophy, and sensory loss Congenital Hypomyelinating Neuropathy (CHN) PMP22, MPZ (dominant[slideshare.net] Based on morphologic characteristics of the peripheral nerve, three subtypes of HMSN III are recognized: HMSN type III with amyelination (“congenital hypomyelinating neuropathy[ajnr.org]

  • Hereditary Areflexic Dystasia

    , hereditary neuropathy with liability to pressure palsies, and congenital hypomyelinating neuropathy). [7] A variety of other gene alterations have been implicated in other[rarediseases.info.nih.gov] Congenital hypomyelinating neuropathy Congenital hypomyelinating neuropathy. The Schwann cell touches the axon but makes no myelin. There are rings of basement membrane.[neuropathology-web.org] Kang, Novel MPZ mutations and congenital hypomyelinating neuropathy, Neuromuscular Disorders, 20, 11, (725), (2010).[doi.org]

  • Young Adult-Onset Distal Hereditary Motor Neuropathy

    CMT4E, also known as congenital hypomyelination neuropathy, is caused by an abnormality in the EGR2 gene located on chromosome 10 at 10q21.1-q22.1.[rarediseases.org] Congenital hypomyelination neuropathy Patients with CHN present with neonatal hypotonia, areflexia, distal weakness, slow nerve conduction velocities, and at times with contractures[emedicine.medscape.com] hypomyelinating neuropathy P 0 EGR2 PMP-22 Autosomal CCFDN CTDP1 18q23 Giant axonal neuropathy Cytoskeletal protein gigaxonin Unknown[emedicine.medscape.com]

  • Inherited Neuropathy

    neuropathy and congenital hypomyelinating neuropathy.[ncbi.nlm.nih.gov] hypomyelination neuropathy and Charcot-Marie-Tooth disease type 1D ( Warner et al 1998 ).[medlink.com] Congenital hypomyelination neuropathy Patients with CHN present with neonatal hypotonia, areflexia, distal weakness, slow nerve conduction velocities, and at times with contractures[emedicine.medscape.com]

  • Hereditary Motor and Sensory Neuropathy

    hypomyelinating neuropathy – severe early onset, conduction velocity Key genes: point mutations in PMP22, MPZ, EGR2, PRX HMSN4: recessive demyelinatingCMT4A-J More common[neupsykey.com] In other types of congenital hypomyelination neuropathy, clinical manifestations are variable.[healio.com] , Autosomal Recessive Charcot-Marie-Tooth Disease, Type 4e Charcot-Marie-Tooth Neuropathy, Type 4e Congenital Hypomyelinating Neuropathy Hypomyelination, Severe Congenital[ukgtn.nhs.uk]

  • Charcot-Marie-Tooth Disease Type 2S

    CMT4E, also known as congenital hypomyelination neuropathy, is caused by an abnormality in the EGR2 gene located on chromosome 10 at 10q21.1-q22.1.[rarediseases.org] , Congenital Hypomyelinating or Amyelinating, Autosomal Recessive Charcot-Marie-Tooth Disease, Type 4e Charcot-Marie-Tooth Neuropathy, Type 4e Congenital Hypomyelinating Neuropathy[ukgtn.nhs.uk] Two of these forms are sometimes referred to as Dejerine Sottas disease (DSD) and Congenital Hypomyelinating Neuropathy (CHN) but these are both forms of CMT1.[cmt.org.uk]

  • Autosomal Recessive Lower Motor Neuron Disease with Childhood Onset

    Dejerine-Sottas syndrome (DSS,OMIM entry 145900 ) and congenital hypomyelinating neuropathy (CH, OMIM entry 605253 ) are included in HMSN type III.[molgen.ua.ac.be] […] muscular dystrophy, congenital myopathy, congenital neuropathy (eg, congenital hypomyelination neuropathy), disorders of carbohydrate metabolism, myasthenia gravis, and ALS[emedicine.medscape.com] […] pediatric cases of mitochondrial respiratory chain defects presenting as progressive bulbar paralysis. [68] Spinal muscular atrophy The differential diagnosis of SMA includes congenital[emedicine.medscape.com]

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