• Scientists have discovered a physiological chain of events in animal models in which motor neurons and their communication with muscle become disrupted by the mutation that causes spinal muscular atrophy. (regenerativemedicine.net)
  • Though spinal muscular atrophy (SMA) in its most severe form remains incurable and fatal in early childhood, researchers are sustaining a multipronged counterattack for patients and their families. (regenerativemedicine.net)
  • Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare, frequently misdiagnosed, autosomal dominant disease caused by mutations in the FTL gene. (bvsalud.org)
  • The objective of this case series, describing three Brazilian families, is to increase awareness of HHCS, as well as to discuss possible phenotypic interactions with concurrent mutations in HFE, the gene associated with autosomal recessive inheritance hereditary hemochromatosis. (bvsalud.org)
  • 4 Optic neuropathy has been reported in 11%-57% of ARN cases. (liefair.de)
  • volvo s60 display not working Anterior ischemic optic neuropathy (AION) and, less commonly, posterior ischemic optic neuropathy may cause progressive cupping . (liefair.de)
  • This condition is also called optic atrophy and optic neuropathy. (stemcellcareindia.com)
  • The role of intravenous steroids is a proven treatment in case of optic neuritis or arthritic anterior ischemic optic neuropathy. (stemcellcareindia.com)
  • Anterior optic ischemic neuropathy is a form of stroke that affects the optic nerve. (stemcellcareindia.com)
  • An hereditary syndrome in which a person loses vision in one eye and then the other (known as Leber's inherited optic neuropathy). (stemcellcareindia.com)
  • Stroke, known as anterior ischemic optic neuropathy. (stemcellcareindia.com)
  • This condition is known as Leber's optic neuropathy. (stemcellcareindia.com)
  • Leber hereditary optic neuropathy (LHON), neurologically-associated retinitis pigmentosa (NARP), myoclonic epilepsy and ragged red-fiber disease (MERRF), maternally inherited myopathy and cardiomyopathy (MMC) (See Taylor & Turnbull, 2005 ). (dorak.info)
  • SUCLG1-related mitochondrial DNA (mtDNA) depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterized in the majority of affected newborns by hypotonia, muscle atrophy, feeding difficulties, and lactic acidosis. (nih.gov)
  • In the case of optic atrophy, something is interfering with the optic nerve's ability to transmit these signals. (stemcellcareindia.com)
  • It creeps into one's life, elevating intraocular pressure and slowly eroding the optic nerve's vitality. (viezec.com)
  • Visual field tests, optical coherence tomography (OCT), and fundus photography are among the tools utilized to assess the optic nerve's health and function. (viezec.com)
  • Early diagnosis and prompt o ptic nerve atrophy stem cell treatment in Delhi India can help the patients with compressive and toxic neuropathies. (stemcellcareindia.com)
  • Glaucoma presents with a very characteristic cavernous atrophy, commonly termed "cupping" or "notching. (liefair.de)
  • By far, the most common optic nerve affliction is glaucoma. (liefair.de)
  • From traumatic injuries to the silent progression of glaucoma, we'll navigate the underlying factors that challenge our optic nerves. (viezec.com)
  • ' The eye doctor can look at the optic nerve through the pupil. (liefair.de)
  • Optic nerve hypoplasia is a condition in which the optic nerve is underdeveloped. (liefair.de)
  • An ophthalmologist determines the condition of optic nerve using an instrument. (stemcellcareindia.com)
  • This is where the enigmatic condition known as Optic Nerve Atrophy (ONA) comes into play, altering the lives of those it touches. (viezec.com)
  • Optic Nerve Atrophy (ONA) is a condition that casts a shadow over the world of vision, and its origins are as varied as they are intriguing. (viezec.com)
  • The end result, which the new study helps to explain, is dysfunction of motor neurons that control muscle along with muscle atrophy and weakness. (regenerativemedicine.net)
  • Optic Nerve Atrophy (ONA) stealthily encroaches upon one's visual world, often without early warning signs. (viezec.com)
  • Join us as we traverse the path of understanding, resilience, and scientific advancement, shedding light on Optic Nerve Atrophy and the possibilities that lie ahead. (viezec.com)
  • Within the realm of ONA, multiple factors can trigger the deterioration of the optic nerve, each with its own story to tell. (viezec.com)
  • A hereditary issue in which the person witnesses a loss of vision that affects one eye, and then in the other. (stemcellcareindia.com)