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162 Possible Causes for Optic Disc Pallor, Progressive Deafness, Spastic Dystonia

  • Autosomal Dominant Deafness 28

    progressive sensorineural deafness, Corneal dystrophy and sensorineural prelingual deafness, Harboyan syndrome.[link.springer.com] Optic Atrophy 1 Clinical Characteristics Ocular Features: This form of bilateral optic atrophy may have its onset in early childhood with optic disc pallor, loss of acuity[disorders.eyes.arizona.edu] […] ataxias Extrapyramidal Akinesia/rigidity/dystonia: SCA 3, 9, 17, 21 ; 12 (Akinesia) Chorea Early/prominent: DRPLA, 17, 27 ; Rarely SCA 2 Dyskinesia: SCA 27 Myoclonus Common[neuromuscular.wustl.edu]

  • Optic Atrophy

    Clinical description ADOA plus is characterized by bilateral and symmetric progressive visual loss (visual acuities ranging from 20/30 to 20/200) and color vision deficiency[orpha.net] 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] The disease presented before age 10 with slowly progressive tremor, dystonia, and spasticity.[ncbi.nlm.nih.gov]

  • Autosomal Dominant Optic Atrophy

    ), a temporal grey crescent (31%), and an enlarged cup to disc ratio, 0.5 (48%). [3] In addition, up to 20% of OPA1 -mutated patients develop " OPA1 plus" phenotype with deafness[ijo.in] 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] 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]

  • Neurodegeneration with Brain Iron Accumulation

    Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1[ncbi.nlm.nih.gov] Examination of her nervous system showed pallor of both optic discs. She had orofacial dystonia and apraxia for swallowing.[e-ijd.org] 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]

  • Primary Optic Atrophy

    Tay-Sachs Niemann-Pick Mucopolysaccharidoses Other inherited neurodegenerative conditions Wolfram syndrome (DIDMOAD: diabetes insipidus, diabetes mellitus, optic atrophy, and deafness[unboundmedicine.com] 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] 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 and Cataract

    Syndrome, Progressive, With Blindness, Dystonia, Fractures, And Mental Deficiency Deafness-Dystonia-Optic Atrophy Syndrome Dystonia-Deafness Syndrome Jensen Syndrome Opticoacoustic[ukgtn.nhs.uk] 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] SPOAN - Spastic Paraplegia, Optic Atrophy, and Neuropathy ADOA - Autosomal Dominant Optic Atrophy CAMOS - Cerebellar Ataxia with Mental Retardation, Optic Atrophy, and Skin[acronymsandslang.com]

  • Hereditary Optic Atrophy

    Tay-Sachs Niemann-Pick Mucopolysaccharidoses Other inherited neurodegenerative conditions Wolfram syndrome (DIDMOAD: diabetes insipidus, diabetes mellitus, optic atrophy, and deafness[unboundmedicine.com] There was bilateral optic disc pallor in fundoscopy and his visual accurate was diminished to counting fingers from one meter.[omicsonline.org] dystonia.[genome.jp]

  • Infantile Choroidocerebral Calcification Syndrome

    Is also known as renal tubular acidosis, autosomal recessive, with progressive nerve deafness, renal tubular acidosis with progressive nerve deafness, rta with progressive[mendelian.co] Cerebral palsy is a nonprogressive neurologic motor deficit (spasticity, dystonia, ataxia, paresis) from insults occured during prenatal/perinatal periods.[radnotes.co.nz] […] bifocal Choroidal atrophy - alopecia Choroidal dystrophy, central areolar 3,33 Choroideremia 2 Choroideremia - deafness - obesity Choroidocerebral calcification syndrome,[docplayer.net]

  • Spastic Ataxia with Congenital Miosis

    […] familial epilepsy Myoclonus ataxia Myoclonus cerebellar ataxia deafness Myoclonus epilepsy partial seizure Myoclonus hereditary progressive distal muscular atrophy Myoclonus[en.wikipedia.org] disc pallor Sensory axonal neuropathy Flexion contracture Limb muscle weakness Progressive spastic paraplegia Scoliosis Motor axonal neuropathy Violent behavior Inertia Exaggerated[mendelian.co] , Angelman syndrome , Ataxia spastic congenital miosis , Ataxia , Athetosis , Autonomic dysreflexia , Autonomic dystonia , Autosomal recessive spastic paraplegia , Bahemuka[wikidoc.org]

  • Globoid Cell Leukodystrophy

    […] damage to the central and peripheral nervous systems resulting in weakness, abnormal muscle tone, immobility, blindness, deafness,and seizures.[myvmc.com] 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] , dystonia, ataxia and peripheral neuropathy.[ncbi.nlm.nih.gov]

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