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152 Possible Causes for Optic Disc Pallor, Spastic Dystonia, Tay-Sachs Disease

  • Optic Atrophy

    CONCLUSIONS: Deeply buried ODD may be associated with NAION causing irreversible visual loss and optic disc pallor, a condition easily mistaken for atypical ON.[ncbi.nlm.nih.gov] Retinal storage diseases (eg, Tay-Sachs disease ). Radiation neuropathy. Syphilis.[patient.info] The disease presented before age 10 with slowly progressive tremor, dystonia, and spasticity.[ncbi.nlm.nih.gov]

  • Primary Optic Atrophy

    Differential Diagnosis Optic atrophy versus other causes of optic disc pallor: • Pallor of optic disc in partial optic atrophy must be differentiated from other causes of[slideshare.net] Retinal storage diseases (eg, Tay-Sachs disease ). Radiation neuropathy. Syphilis .[patient.info] Other patients have minor neurologic abnormalities, such as a postural tremor, loss of ankle reflexes, dystonia, spasticity, or a multiple sclerosis–like illness.[merckmanuals.com]

  • Autosomal Dominant Optic Atrophy

    These patients typically present in the first decade of life with slightly subnormal acuity, dyschromatopsia, central visual field loss, and optic disc pallor.[practicalreviews.com] Retinal storage diseases (eg, Tay-Sachs disease ). Radiation neuropathy. Syphilis.[patient.info] Other patients have minor neurologic abnormalities, such as a postural tremor, loss of ankle reflexes, dystonia, spasticity, or a multiple sclerosis–like illness.[merckmanuals.com]

  • Neuronal Ceroid Lipofuscinosis

    Early changes include defective macular light reflex and optic disc pallor followed by attenuation of vessels, pigmentary retinal changes, degeneration of macula and optic[ncbi.nlm.nih.gov] […] disorder now identified as GM2 gangliosidosis type A.[en.wikipedia.org] Benzodiazepines may help control seizures, anxiety, and spasticity. Trihexyphenydate may improve dystonia and sialorrhea.[ncbi.nlm.nih.gov]

  • Neurodegeneration with Brain Iron Accumulation

    Examination of her nervous system showed pallor of both optic discs. She had orofacial dystonia and apraxia for swallowing.[e-ijd.org] gangliosidosis (see Hexosaminidase A Deficiency ), Niemann-Pick disease type C, and Menkes disease (see ATP7A -Related Copper Transport Disorders ).[ncbi.nlm.nih.gov] Mutation in the fatty acid 2-Hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia. Am I Hum Genet 2008;83:647-648.[journals.sbmu.ac.ir]

  • Autosomal Dominant Optic Atrophy and Cataract

    Optic disc appearance of OPA1 -positive two patients showing bilateral prominent temporal wedge of pallor ( upper ) and total disc pallor ( lower ). ( C ) Optic disc appearance[iovs.arvojournals.org] Tay-Sachs disease (GM2 gangliosidosis) Tay-Sachs disease is caused by dysfunction of the enzyme beta-hexosaminidase, encoded by the HEXA gene (15q23), and primarily affects[elsevier.es] SPOAN - Spastic Paraplegia, Optic Atrophy, and Neuropathy ADOA - Autosomal Dominant Optic Atrophy CAMOS - Cerebellar Ataxia with Mental Retardation, Optic Atrophy, and Skin[acronymsandslang.com]

  • Autosomal Recessive Spastic Paraplegia Type 46

    The ophthalmic examination discloses on fundoscopy isolated optic disc pallor or atrophy, related to the RGC death.[ncbi.nlm.nih.gov] Tay-Sachs disease (GM2 gangliosidosis) Tay-Sachs disease is caused by dysfunction of the enzyme beta-hexosaminidase, encoded by the HEXA gene (15q23), and primarily affects[elsevier.es] Dystonia, Dopa-responsive, due to sepiapterin reductase deficiency AR 12 23 TH Segawa syndrome, autosomal recessive AR 44 71 ZFYVE26 Spastic paraplegia 15 AR 63 39 * Some,[blueprintgenetics.com]

  • Globoid Cell Leukodystrophy

    Signs included pes cavus, optic disc pallor, progressive spastic tetraparesis, a sensorimotor demyelinating neuropathy and hypodense lesions in the parieto-occipital periventricular[ncbi.nlm.nih.gov] Differential diagnosis Cerebral palsy Congenital rubella Tay-Sachs disease Myotonia congenita Investigations Galactosylceramidase (GALC) enzyme activity - from blood or skin[patient.info] , dystonia, ataxia and peripheral neuropathy.[ncbi.nlm.nih.gov]

  • Secondary Optic Atrophy

    Differential Diagnosis Optic atrophy versus other causes of optic disc pallor: • Pallor of optic disc in partial optic atrophy must be differentiated from other causes of[slideshare.net] Retinal storage diseases (eg, Tay-Sachs disease ). Radiation neuropathy. Syphilis .[patient.info] ., Genetic and Biochemical Impairment of Mitochondrial Complex I Activity in a Family with Leber Hereditary Optic Neuropathy and Hereditary Spastic Dystonia.[www-personal.umd.umich.edu]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    disc pallor Pancytopenia Peripheral demyelination Thoracolumbar kyphosis Antineutrophil antibody positivity Hypoplastic inferior ilia Generalized abnormality of skin Increased[mendelian.co] Sachs disease Treatable Metabolic Neurodegenerative Disorders Zellweger spectrum disorders Zellweger syndrome[agdx.portal.cartagenia.com] Tarsal-Carpal Coalition Syndrome Tay-Sachs Disease Tay-Sachs Disease, AB Variant Tay-Sachs Disease, B1 Variant Thalassemia Beta Thalassemia Beta-Plus Thalassemia Delta Thanatophoric[sequencing.com]

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