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118 Possible Causes for Optic Disc Pallor, Spastic Dystonia

  • Leber's Hereditary Optic Neuropathy

    Fundoscopic examination showed hyperemic papilla on the right eye and optic disc pallor on the left eye.[ncbi.nlm.nih.gov] A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia.[ncbi.nlm.nih.gov] After subsequent development of bilateral optic disc pallor, we concluded that the patient had LHON. mtDNA analysis was conducted using non-radioisotopic single-strand conformational[ncbi.nlm.nih.gov]

  • 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] The disease presented before age 10 with slowly progressive tremor, dystonia, and spasticity.[ncbi.nlm.nih.gov] 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]

  • Mitochondrial Membrane Protein-Associated Neurodegeneration

    Ataxia, deformities, and bulbar dysfunction may be seen. [7] Ophthalmological abnormalities include nystgamus, strabismus, and optic disc pallor, suggestive of optic atrophy[annalsofian.org] Spasticity, more prominent than dystonia, optic atrophy, motor neuropathy, and a slowly progressive course with cognitive decline help to differentiate MPAN from the other[malacards.org] Conclusions MPAN is characterized by a juvenile‐onset, slowly progressive phenotype with predominant lower limb spasticity, generalized dystonia, and cognitive impairment.[ingentaconnect.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] 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] 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]

  • Primary Optic Atrophy

    Optic disc pallor is one of the defining characteristics of Dominant Optic Atropy.[webeye.ophth.uiowa.edu] 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] F igure 1. ( A ) Right optic disc of patient 6 with diffuse pallor and nerve fiber layer loss. ( B ) Left optic disc of patient 14 with wedge-shaped temporal pallor reminiscent[iovs.arvojournals.org]

  • Autosomal Dominant Optic Atrophy and Cataract

    Optic disc pallor is one of the defining characteristics of Dominant Optic Atropy.[webeye.ophth.uiowa.edu] SPOAN - Spastic Paraplegia, Optic Atrophy, and Neuropathy ADOA - Autosomal Dominant Optic Atrophy CAMOS - Cerebellar Ataxia with Mental Retardation, Optic Atrophy, and Skin[acronymsandslang.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]

  • 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] , dystonia, ataxia and peripheral neuropathy.[ncbi.nlm.nih.gov] […] of age, with a well preserved intellectual and communicative capacity, in contrast to visual failure and severe central pyramidal and extrapyramidal motor disability with spasticity[ncbi.nlm.nih.gov]

  • Infantile Choroidocerebral Calcification Syndrome

    Learn more about how to achieve it with Mendelian Learn more Other signs and symptoms that you may find interesting Myopia and Optic disc pallor, related diseases and genetic[mendelian.co] , dystonia, seizures, and cognitive decline (summary by Labrune et al., 1996 ).See also cerebroretinal microangiopathy with calcifications and cysts ( CRMCC ), an autosomal[mendelian.co] […] marrow hypocellularity Pancytopenia Nail dysplasia Cirrhosis Nail dystrophy Thrombocytopenia Growth delay Cogwheel rigidity Shuffling gait Lewy bodies Abnormality of the optic[mendelian.co]

  • Beta-Propeller Protein-Associated Neurodegeneration

    Ataxia, deformities, and bulbar dysfunction may be seen. [7] Ophthalmological abnormalities include nystgamus, strabismus, and optic disc pallor, suggestive of optic atrophy[annalsofian.org] Therapies to manage dystonia can include: Intramuscular botulinum toxin Botox is injected in spastic, dystonic muscles to help them relax for a period of time Oral Artane[nbiacure.org] Neurologic examination was completely unremarkable with no clear dysarthria, spasticity, dystonia, or parkinsonian features.[pediatrics.aappublications.org]

  • Autosomal Dominant Deafness 28

    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] Moderate to severe temporal or diffuse pallor can be seen. The optic disc has been described as normal in 29% of documented carriers and 20% have no visual field defect.[disorders.eyes.arizona.edu]

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