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188 Possible Causes for Mental Retardation, 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.[] retardation.[] A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia.[]

  • 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[] However, the significant incidence of mental retardation and other neurological impairment was noted for those children who had manifested severely impaired vision under one[] Other patients have minor neurologic abnormalities, such as a postural tremor, loss of ankle reflexes, dystonia, spasticity, or a multiple sclerosis–like illness.[]

  • Neurodegeneration with Brain Iron Accumulation

    Examination of her nervous system showed pallor of both optic discs. She had orofacial dystonia and apraxia for swallowing.[] retardation, retinitis pigmentosa and iron accumulation in the brain.[] 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.[]

  • 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[] retardation.[] , dystonia, ataxia and peripheral neuropathy.[]

  • Hereditary Spastic Paraplegia

    retardation and ichthyosis.[] disc pallor, axonal neuropathy, and evidence of vascular lesions, cerebellar atrophy, or cerebral atrophy on cranial magnetic resonance imaging.[] One previously reported missense mutation c.316G A, p.Gly106Arg, was identified in a complex HSP patient with spastic dysarthria, facial dystonia, atrophy of the small hand[]

  • Optic Atrophy

    We report two male cousins with short stature, microcephaly, hypertelorism, optic atrophy, ptosis, absent ear lobes, high-arched palates, abnormal EEG, and severe mental retardation[] CONCLUSIONS: Deeply buried ODD may be associated with NAION causing irreversible visual loss and optic disc pallor, a condition easily mistaken for atypical ON.[] The disease presented before age 10 with slowly progressive tremor, dystonia, and spasticity.[]

  • Spinocerebellar Ataxia Type 1

    On funduscopy, there were small drusen around the fovea and mild temporal optic disc pallor (Fig. 3).[] SCA 13 is developed in childhood and mental retardation is one of the major problems with the child.[] […] 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[]

  • Spastic Quadriplegic Cerebral Palsy Type 2

    Polyneuropathy Urinary incontinence Bilateral sensorineural hearing impairment Abdominal distention Optic disc pallor Peripheral demyelination Frequent falls Generalized[] retardation ZNF41 Mental retardation ZNF81 Mental retardation ZNF674 Mental retardation ZNF711 Mental retardation COL4A1 Angiopathy, hereditary, with nephropathy, aneurysms[] Treatment with continuous pump-administered intrathecal baclofen can be considered for spasticity if, despite the use of non-invasive treatments, spasticity or dystonia are[]

  • Familial Porencephaly

    Fundoscopy showed a cup-to-disc (C/D) ratio in the RE of 0.3 and in the LE of 0.4 and bilateral optic disc pallor (fig. 1 ).[] Other symptoms include seizures, mental retardation, paralysis and deficient muscle tone.[] dystonia. ( 28566157 ) Vucurovic K....Kaladjian A. 2017 8 Schizencephaly and Porencephaly Due to Fetal Intracranial Hemorrhage: A Report of Two Cases. ( 29434494 ) Harada[]

  • 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[] GEO for disease gene expression data for Choroid Plexus Calcification and Mental Retardation.[] Cerebral palsy is a nonprogressive neurologic motor deficit (spasticity, dystonia, ataxia, paresis) from insults occured during prenatal/perinatal periods.[]

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