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159 Possible Causes for Diffuse Hypomyelination, Nystagmus

  • Pelizaeus-Merzbacher Disease

    […] in two patients in whom the waveform of the nystagmus was not obvious on inspection.[ncbi.nlm.nih.gov] Magnetic resonance imaging (MRI) of the brain revealed diffuse hypomyelination [Figure 1].[annalsofian.org] Magnetic resonance imaging (MRI) of the brain had classical features of diffuse hypomyelination which is characteristic of PMD for this age group.[jpma.org.pk]

  • Hypomyelinating Leukodystrophy Type 5

    Horizontal nystagmus and head tremors were apparent from the age of 3 months.[plaza.umin.ac.jp] Brain magnetic resonance imaging show the combination of a diffuse hypomyelination with superimposed periventricular white matter signal abnormalities. this study describes[ncbi.nlm.nih.gov] In the intermediate stage (approximately 2–10 years), the white matter is diffusely abnormal with a background of diffuse hypomyelination ( Fig 2 ), in most patients associated[ajnr.org]

  • Central Positional Vertigo

    The direction of nystagmus is important for the diagnosis of central paroxysmal positioning nystagmus (cPPV) . Neuro-Ophthalmology, Vol. 21, Issue. 2, p. 97.[cambridge.org] A repeat brain MRI at 33 months of age confirmed the diffuse hypomyelinating pattern of the supratentorial cerebral white matter ( Figure 1B ).[omicsonline.org] Effect of Fixation on Nystagmus 4. Vestibular versus Central Nystagmus 5.[slideshare.net]

  • Congenital Muscular Dystrophy

    […] associated MEB disease include increased pressure within the eyes (infantile glaucoma), clouding of the lenses of the eyes (cataracts), rapid, involuntary eye movements (nystagmus[rarediseases.org] Cerebral magnetic resonance imaging revealed diffuse hypomyelination in both cerebral hemispheres; electrophysiological assessment revealed progressive sensorimotor axonal[ncbi.nlm.nih.gov] […] hypoplasia are also very frequent.36,38 Ocular involvement is an invariable feature, ranging from severe myopia and retinal hypoplasia to congenital and infantile glaucoma, nystagmus[healio.com]

  • Hereditary Cerebellar Degeneration

    […] the cases reported by Bouchard had a horizontal nystagmus and occasionally a more irregular vertical nystagmus.[collections.lib.utah.edu] Hypomyelination with congenital cataracts.[ajnr.org] […] positional down-beat nystagmus).[orpha.net]

  • Congenital Cataract

    PURPOSE: To identify the potential candidate genes for a large Chinese family with autosomal dominant congenital cataract (ADCC) and nystagmus, and investigate the possible[ncbi.nlm.nih.gov] Brain magnetic resonance imaging show the combination of a diffuse hypomyelination with superimposed periventricular white matter signal abnormalities.[ncbi.nlm.nih.gov] Early surgery should be performed in sensitive vision development period to avoid vision deprivation in cases of strabismus and nystagmus development.[ncbi.nlm.nih.gov]

  • Autosomal Recessive Spastic Ataxia with Leukoencephalopathy

    Diseases related with Nystagmus and Cerebral cortical atrophy In the following list you will find some of the most common rare diseases related to Nystagmus and Cerebral cortical[mendelian.co] System Hypomyelination Disease include: Childhood Ataxia with diffuse CNS Hypomyelination (CACH) Childhood Ataxia with diffuse Central Nervous System Hypomyelination Leukodystrophy[australasianleukodystrophyfoundation.com] Affected individuals show delayed motor development and nystagmus; some may have mild mental retardation.[mendelian.co]

  • X-Linked Spastic Paraplegia Type 2

    A 29-year-old man developed progressive spastic quadriplegia from early childhood with dysarthria, ataxia, dysphagia, and intellectual delay, but he displayed no nystagmus[ncbi.nlm.nih.gov] Brain magnetic resonance imaging (MRI) reveals patchy or diffuse hypomyelination on T2-weighted images. Patients with pure SPG2 can have very subtle T2 hyperintensity.[rarediseases.info.nih.gov] […] spastic gait in the pure form of spastic paraplegia type 2 to a severely disabling form of Pelizaeus-Merzbacher disease featuring hypotonia, respiratory distress, stridor, nystagmus[ncbi.nlm.nih.gov]

  • Ataxia

    Jittery eye movements - nystagmus . Sensory (Proprioceptive) Ataxia This results from dysfunction to position sensing (proprioceptive) nerve inputs.[mult-sclerosis.org] Diffuse hypomyelination is not obligate for POLR3-related disorders. Neurology. 2016; 86 :1622–6. [ PMC free article : PMC4844237 ] [ PubMed : 27029625 ] La Spada AR.[ncbi.nlm.nih.gov] Spinocerebellar ataxia 1 See the list below: Clinical features Onset in the fourth decade of life Gait ataxia, dysarthria, dysmetria, nystagmus, peripheral neuropathy, muscle[emedicine.medscape.com]

  • Spastic Ataxia with Congenital Miosis

    Frequency HPO Source Accession 1 dysarthria 60 33 hallmark (90%) Very frequent (99-80%) HP:0001260 2 congenital miosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0007728 3 nystagmus[malacards.org] MRI shows hypomyelination, as evident from the diffusely elevated T2 white-matter signal.[clinicalgate.com] Several individuals also had nystagmus and dysconjugate eye movements.[disorders.eyes.arizona.edu]

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