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29 Possible Causes for Nonspecific Myopathy, Optic Disc Pallor, Spastic Dystonia

  • Leber's Hereditary Optic Neuropathy

    Systemic Features: A large number of associated neurologic abnormalities have been reported including ataxia, hyperreflexia, nonspecific myopathy, tremors, movement disorders[disorders.eyes.arizona.edu] 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]

  • Optic Atrophy

    Systemic Features: A large number of associated neurologic abnormalities have been reported including ataxia, hyperreflexia, nonspecific myopathy, tremors, movement disorders[disorders.eyes.arizona.edu] 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

    Extremely rarely there may be neurologic abnormalities, such as peripheral neuropathy, postural tremor, nonspecific myopathy, and movement disorders.[rarediseases.org] 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]

  • Hereditary Optic Atrophy

    Systemic Features: A large number of associated neurologic abnormalities have been reported including ataxia, hyperreflexia, nonspecific myopathy, tremors, movement disorders[disorders.eyes.arizona.edu] 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]

  • Autosomal Dominant Optic Atrophy and Cataract

    Neurologic abnormalities such as postural tremor, peripheral neuropathy, nonspecific myopathy, and movement disorders have been reported to be more common in individuals with[ncbi.nlm.nih.gov] 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]

  • Strabismus

    Ocular myopathies Ocular myositis [ 21 ] This is an idiopathic, nonspecific inflammation of one or more of the extraocular muscles, usually presenting early in adult life[patient.info] […] or optic disc pallor.[ncbi.nlm.nih.gov] Lower Limb Spasticity The most frequently reported adverse reactions following injection of BOTOX for lower limb spasticity include arthralgia, back pain, myalgia, upper respiratory[botoxmedical.com]

  • Optic Neuropathy

    Systemic Features: A large number of associated neurologic abnormalities have been reported including ataxia, hyperreflexia, nonspecific myopathy, tremors, movement disorders[disorders.eyes.arizona.edu] , and (f) development of optic disc pallor, usually within 6-8 weeks.[webeye.ophth.uiowa.edu] Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia.[jmg.bmj.com]

  • Glycogen Storage Disease due to Phosphoglycerate Mutase Deficiency

    Muscle biopsy reveals a vacuolar myopathy: Vacuoles contain glycogen and show increased acid phosphatase activity.[clinicalgate.com] disc pallor Nephronophthisis Need help with a diagnosis?[mendelian.co] […] motor neuron: Extensor plantar responses Cognitive: Probably normal Muscle weakness Proximal Face Slowly progressive Tendon reflexes Early: Reduced Late: Increased with Spasticity[neuromuscular.wustl.edu]

  • Autosomal Dominant Progressive External Ophthalmoplegia Type 6

    Patients can have other symptoms such as cardiac arrhythmias, Postural tremor, Peripheral neuropathy, Nonspecific myopathy, or Movement disorder.[clinicaladvisor.com] Fundoscopic examination reveals temporal pallor of the optic disc.[neuropathology-web.org] , dystonia, hypotonia, bulbar signs, chorea, seizures, myoclonus, strokelike episodes, encephalopathy Ophthalmologic – optic atrophy, retinitis pigmentosa, ptosis, diplopia[arupconsult.com]

  • Native American Myopathy

    CASE REPORTS Abstract In Brief Author Information Authors King syndrome is characterized by the presence of a nonspecific myopathy, a susceptibility to malignant hyperthermia[journals.lww.com] […] of optic disc, cataracts AD, AR, XLR Numerous Multiple RETINOBLASTOMA Leukcoria, strabismus, retinal detachment, glaucoma, pseudouveitis, proptosis, hyphema, orbital cellulitis[eyewiki.aao.org] , and cerebral hypomyelination Potocki-Shaffer syndrome Brachydactyly elbow wrist dysplasia Keratoderma palmoplantar spastic paralysis Agammaglobulinemia, microcephaly, and[checkrare.com]

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