Create issue ticket

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[] A sural nerve biopsy specimen showed marked decreases in the numbers of both large and small myelinated fibers, abundant onion-bulb formation, and hypomyelination.[] , consistent with congenital hypomyelination neuropathy (CHN).[]

  • Hypomyelinating Leukodystrophy Type 5

    Sural nerve biopsy revealed hypomyelinated nerve fibers.[] 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.[] Neuroimaging studies demonstrated a diffuse supratentorial hypomyelination, with in some patients, additional areas of more prominent signal change in the frontal region.[]

  • Peripheral Neuropathy

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

  • 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[] 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[]

  • Young Adult-Onset Distal Hereditary Motor Neuropathy

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

  • Neurogenic Arthrogryposis Multiplex Congenita

    The AMC-SMA association needs differentiation from neurogenic arthrogry-posis due to anterior horn cell dysgenesis and congenital hypomyelinating neuropathy.[] […] 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[]

  • CANOMAD Syndrome

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

  • 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[] […] disorders & NM disease Spheroid body myopathy Ubiquitin & Degradation Vasculitic neuropathies Wallet WebSites October Anti-GM1 antibody testing Autonomic mechanisms Congenital Hypomyelinating[]

  • Alexander Disease

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

Further symptoms