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1,457 Possible Causes for Cerebellar Ataxia, Cerebellar Hypoplasia

  • Dysequilibrium Syndrome

    Dysequilibrium syndrome is a genetically heterogeneous condition that combines autosomal recessive, nonprogressive cerebellar ataxia with mental retardation.[ncbi.nlm.nih.gov] From Wikipedia, the free encyclopedia Jump to navigation Jump to search VLDLR-associated cerebellar hypoplasia Other names Dysequilibrium syndrome, DES ; Nonprogressive cerebellar[en.wikipedia.org] cerebellar ataxia associated with cerebellar hypoplasia.[ncbi.nlm.nih.gov]

  • Arnold-Chiari Malformation Type 1

    ataxia 0002073 Scoliosis Abnormal curving of the spine 0002650 Sensory impairment 0003474 Stiff neck Neck stiffness 0025258 Syringomyelia Fluid-filled cyst in spinal cord[rarediseases.info.nih.gov] hypoplasia without displacement of the cerebellum through the foramen magnum probably a variation of cerebellar hypoplasia Chiari V malformation absent cerebellum herniation[radiopaedia.org] Truncal and appendicular ataxia, & cerebellar dysfunction, is the second most common sign (in 30–40%). 5.[teddybrain.wordpress.com]

  • Dandy-Walker Syndrome

    Marinesco-Sjögren syndrome (MSS) is a rare autosomal recessive disorder, which is characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness, and[ncbi.nlm.nih.gov] hypoplasia, hydrocephalus, and posterior fossa cyst formation.[medical-dictionary.thefreedictionary.com] Neurological examination was unremarkable without cerebellar ataxia or psychomotor retardation .the patient was submitted to CT scan and magnetic resonance imaging (MRI) of[panafrican-med-journal.com]

  • Congenital Non-Progressive Ataxia

    Non-progressive cerebellar ataxia is associated with delayed developmental milestones and hypotonia (visible from the first year of life), gait and balance disorders with[orpha.net] Clinical evaluation showed bilateral superior coloboma, foveal hypoplasia, and inferior cerebellar hypoplasia.[ncbi.nlm.nih.gov] TY - JOUR T1 - Gillespie's syndrome (incomplete aniridia, cerebellar ataxia and oligophrenia).[unboundmedicine.com]

  • Aprosencephaly and Cerebellar Dysgenesis

    […] tremor/ataxia syndrome (FXTAS)- – mild to moderate cerebral & cerebellar atrophy – Increases T2 signal in deep white matter of cerebellar hemisphere & middle cerebellar peduncles[slideshare.net] This article is about human cerebellar hypoplasia. For cerebellar hypoplasia in other animals, see cerebellar hypoplasia (non-human).[en.wikipedia.org] ataxia, and mental retardation, see Gillespie syndrome aniridia-cerebellar ataxia-intellectual disability, see Gillespie syndrome aniridia-cerebellar ataxia-mental deficiency[mygenomics.com]

  • Myelocerebellar Disorder

    Ataxia-pancytopenia (AP) syndrome is seen as a cerebellar ataxia, variable hematologic cytopenias, and predisposition to marrow failing and myeloid leukemia, connected with[hiv-proteases.com] hypoplasia Lissencephaly with cerebellar hypoplasia type A Lissencephaly with cerebellar hypoplasia type B Lissencephaly with cerebellar hypoplasia type C Lissencephaly with[se-atlas.de] […] disorders in cerebellar ataxia were not treatable.[en.wikipedia.org]

  • X-Linked Spinocerebellar Ataxia Type 5

    Both cases featured congenital hypotonia, delayed motor development, and cerebellar ataxia.[neurology.org] This is the first example of the genetic mapping of a pure congenital cerebellar hypoplasia syndrome.[ncbi.nlm.nih.gov] Localized cerebellar hypoplasia. Fetal coronal T2 image ( A ) shows a left-sided cerebellar hematoma ( arrow ).[ajnr.org]

  • Cerebellotrigeminal Dermal Dysplasia

    Ancillary Article Information Format Available Full text: PDF Request Permissions Keywords symmetrical scalp alopecia; craniosynostosis; cerebellar ataxia; rhombencephalosynapsis[onlinelibrary.wiley.com] Neuroimaging of patients with GLHS shows rhombencephalosynapsis is universally present, with ventriculomegaly/hydrocephalus and cerebellar hypoplasia being common.[ncbi.nlm.nih.gov] Poretti A, Limperopoulos C, Roulet-Perez E et al (2010) Outcome of severe unilateral cerebellar hypoplasia.[doi.org]

  • Adult-Onset Autosomal Recessive Cerebellar Ataxia

    Tags: acute onset cerebellar ataxia , autosomal recessive cerebellar ataxia , cerebellar ataxia , cerebellar dysfunction , Friedreich's ataxia , neurodegenerative diseases[blogs.nejm.org] SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2; SCAR2, Cerebellar Granular Cell Hypoplasia and Mental Retardation, Congenital, Cpd 3 Annotation Sufficiency: ?[monarchinitiative.org] Localized cerebellar hypoplasia. Fetal coronal T2 image ( A ) shows a left-sided cerebellar hematoma ( arrow ).[ajnr.org]

  • Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

    Applicable To Early-onset cerebellar ataxia with essential tremor Early-onset cerebellar ataxia with myoclonus [Hunt's ataxia] Early-onset cerebellar ataxia with retained[icd10data.com] Localized cerebellar hypoplasia. Fetal coronal T2 image ( A ) shows a left-sided cerebellar hematoma ( arrow ).[ajnr.org] The Blueprint Genetics ataxia panel covers classical genes associated with cerebellar ataxia, spinocerebellar ataxia and episodic ataxia.[blueprintgenetics.com]

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