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137 Possible Causes for Hypomyelinated Fibers

  • Déjerine-Sottas Disease

    The pathology of the sural nerve showed hypomyelinated fibers with absence of active demyelination and onion-bulb formations composed of two parallel layers of basement membrane[ncbi.nlm.nih.gov] A sural nerve biopsy specimen showed marked decreases in the numbers of both large and small myelinated fibers, abundant onion-bulb formation, and hypomyelination.[ncbi.nlm.nih.gov] , consistent with congenital hypomyelination neuropathy (CHN).[ncbi.nlm.nih.gov]

  • Hypomyelinating Leukodystrophy Type 5

    Sural nerve biopsy revealed hypomyelinated nerve fibers.[ncbi.nlm.nih.gov] Sural nerve biopsy showed a slight-to-severe reduction in myelinated fiber density, with several axons surrounded by a thin myelin sheath or devoid of myelin.[ncbi.nlm.nih.gov] Neuroimaging studies demonstrated a diffuse supratentorial hypomyelination, with in some patients, additional areas of more prominent signal change in the frontal region.[ncbi.nlm.nih.gov]

  • Peripheral Neuropathy

    […] uniformly thin myelin sheaths, suggesting hypomyelination.[ncbi.nlm.nih.gov] Nerve conduction studies demonstrated an asymmetric demyelinating-type peripheral neuropathy, and sural nerve biopsy documented reduced myelinated nerve fiber density with[ncbi.nlm.nih.gov]

  • Dilated Cardiomyopathy 1R

    117000 RYR1 ryanodine receptor 1 (skeletal) Enf-601 Neuropathy, congenital hypomyelinating 605253 MPZ myelin protein zero Enf-602 Neuropathy, hereditary sensory, type ID[ac-gen.com] Neurofibromatosis, type 1 162200 NF1 neurofibromin 1 Enf-599 Neurofibromatosis, type 2 101000 NF2 neurofibromin 2 (merlin) Enf-600 Neuromuscular disease, congenital, with uniform type 1 fiber[ac-gen.com]

  • Young Adult-Onset Distal Hereditary Motor Neuropathy

    The myelin sheath is inappropriately thin, probably as a result of segmental remyelination or hypomyelination.[emedicine.medscape.com] (B) Semithin longitudinal section demonstrating tomaculae in continuity with myelinated fibers.[emedicine.medscape.com] (C) Teased myelinated nerve fiber containing tomaculae that consist of globular expansions of myelin measuring 30-50 µm in length.[emedicine.medscape.com]

  • Neurogenic Arthrogryposis Multiplex Congenita

    The AMC-SMA association needs differentiation from neurogenic arthrogry-posis due to anterior horn cell dysgenesis and congenital hypomyelinating neuropathy.[indianpediatrics.net] […] muscle biopsy on routine histochemical stains demonstrates a typical picture of denervation atrophy with groups of small fibres adjacent to groups of normal or hypertrophied fibers[indianpediatrics.net]

  • CANOMAD Syndrome

    BCongenital CCongenital DCongenital FCongenital GCongenital HCongenital ICongenital JCongenital KCongenital LCongenital IIXCongenital disorders anemia ectodermal lossCongenital fiber[shecandothat.net] […] generalized giant blockCongenital ptosis hypodontia radio ulnar hemolytic hepatic herpes human virusCongenital hypomyelination hypotrichosis miliaCongenital ichthyosis microcephalus[shecandothat.net]

  • Andermann Syndrome
  • Dysautonomia

    […] myositis Inflammatory myopathies Muscle contraction Skeletal Smooth Myopathy ringed fibers Nemaline rod myopathy Pathology: Muscle & Nerve Duchenne MD Emery-Dreifuss MD Fiber[neuromuscular.wustl.edu] […] disorders & NM disease Spheroid body myopathy Ubiquitin & Degradation Vasculitic neuropathies Wallet WebSites October Anti-GM1 antibody testing Autonomic mechanisms Congenital Hypomyelinating[neuromuscular.wustl.edu]

  • Alexander Disease

    It is particularly severe in the infantile form and in areas of white matter with abundant Rosenthal fibers.[medifitbiologicals.com] Therefore, the signal abnormality of the white matter cannot be explained by hypomyelination alone.[ajnr.org] It can be considered, in large part, as a deficiency of normal myelination or hypomyelination, rather than demyelination.[medifitbiologicals.com]

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