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48 Possible Causes for Delayed Development of Motor Skills, Diffuse Hypomyelination

  • Fucosidosis

    People with this condition often have delayed development of motor skills such as walking; the skills they do acquire deteriorate over time.[ghr.nlm.nih.gov] MRI showed diffuse hypomyelination and auditory brainstem responses and somatic-sensorial evoked potentials were altered.[ncbi.nlm.nih.gov] . • Typical MRI features combine bilateral globi pallidi hyperintensity on T1-weighted images that are hypointense on T2-weighted images with diffuse hypomyelination. • Proton[medlink.com]

  • Congenital Muscular Dystrophy

    These changes in the structure of the brain lead to significantly delayed development of speech and motor skills and moderate to severe intellectual disability.[ghr.nlm.nih.gov] Cerebral magnetic resonance imaging revealed diffuse hypomyelination in both cerebral hemispheres; electrophysiological assessment revealed progressive sensorimotor axonal[ncbi.nlm.nih.gov] […] hypoplasia, patchy hypomyelination, and variable callosal hypogenesis and hydrocephalus.[neurologyindia.com]

  • Propionic Acidemia

    In few cases of delayed-onset propionic acidemia, patient present long-term effects including: Delay in development of communication and motor skills Mental retardation with[healthhype.com] Galactosemia may present with diffuse hypomyelination.[docslide.us] Schiffmann R, Moller JR, Trapp BD, et al.: Childhood ataxia with diffuse central nervous system hypomyelination.[docslide.us]

  • Pelizaeus-Merzbacher Disease

    development of motor skills, such as sitting or grasping objects.[ghr.nlm.nih.gov] Magnetic resonance imaging (MRI) of the brain revealed diffuse hypomyelination [Figure 1].[annalsofian.org] […] functioning Note: Pelizaeus-Merzbacher disease is a leukodystrophy with symptoms including involuntary eye movement, delayed development (as of motor skills and language)[merriam-webster.com]

  • Autosomal Recessive Spastic Ataxia with Leukoencephalopathy

    Affected children may have slightly delayed development of motor skills such as crawling or walking.[ghr.nlm.nih.gov] System Hypomyelination Disease include: Childhood Ataxia with diffuse CNS Hypomyelination (CACH) Childhood Ataxia with diffuse Central Nervous System Hypomyelination Leukodystrophy[australasianleukodystrophyfoundation.com] Other Clinical Names for Vanishing White Matter Disease Other clinical names of Vanishing White Matter Disease include: Childhood Ataxia with diffuse CNS Hypomyelination ([leukodystrophyresourceresearch.org]

  • Phenylketonuria

    […] and edema 6 ) atrophy and compensatory ventricular dilatation may occur eventually DWI: reduced diffusion in acutely affected areas 4 MR spectroscopy: phenylalanine peak[radiopaedia.org] FLAIR: high signal in affected areas occurring firstly in the periventricular/parieto-occipital white matter before eventually affecting the subcortical white matter (due to hypomyelination[radiopaedia.org]

  • X-Linked Spastic Paraplegia Type 2

    Despite the prominent developmental delay of motor skills, patients often show slow development in the first decade of life, and then slowly deteriorate until death in mid-adulthood[ulf.org] 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] […] in motor development that can be seen within the first year of life.[ulf.org]

  • Canavan Disease

    In addition, delayed development of speech and motor skills occur.[umassmed.edu] […] and cerebellar white matter, overall suggestive of hypomyelination ( Figure 3 ).[ncbi.nlm.nih.gov] By age 3 to 5 months, affected infants begin having problems with development, including a delay in motor skills such as turning over, controlling head movement, and sitting[gofundme.com]

  • Cockayne Syndrome

    development of fine and gross motor skills Hearing loss, which can happen suddenly Pigmentary abnormalities in the retina Photosensitivity (easy sunburning) Abnormal curvature[forgottendiseases.org] Brain imaging reveals diffuse hypomyelination of the cerebral white matter, calcifications in the putamen, and vermian atrophy.[orpha.net] Changes were compatible with diffuse white matter hypomyelination. Basal ganglia calcification was present in both, marked cerebellar atrophy in the older patient.[ncbi.nlm.nih.gov]

  • Central Positional Vertigo

    Vestibular areflexia as a cause of delayed motor skill development in children with the CHARGE association. Int J Pediatr Otorhinolaryngol. 1997;39:205–22. 6.[nature.com] A repeat brain MRI at 33 months of age confirmed the diffuse hypomyelinating pattern of the supratentorial cerebral white matter ( Figure 1B ).[omicsonline.org]

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