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8 Possible Causes for Episodic Mitochondrial Myopathy - Optic Atrophy - Reversible Leukoencephalopathy

  • MELAS Syndrome

    Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is one of the family of mitochondrial cytopathies, which also include MERRF, and Leber's hereditary optic neuropathy. It was first characterized under this name in 1984. A feature of these diseases is that they are caused by defects in[…][en.wikipedia.org]

  • Myasthenia Gravis

    Myasthenia gravis is a rare autoimmune disorder of the neuromuscular junction characterized by varying degrees of weakness of the voluntary muscles. Myasthenia gravis affects children and neonates as well as adults. There will be weakness noticed in children too. There might be a weak cry and difficult movement[…][symptoma.com]

  • MERRF Syndrome

    From Wikidata Jump to navigation Jump to search mitochondrial disease Fukuhara syndrome (disorder) Myoclonic epilepsy - ragged red fibers (disorder) Myoclonus epilepsy AND ragged red fibers (disorder) Myoclonus with epilepsy and with Ragged Red Fibers (MERRF syndrome) myoclonic epilepsy with ragged red fibers[…][wikidata.org]

  • Early Infantile Epileptic Encephalopathy Type 3

    Epileptic encephalopathy with suppression-burst in electroencephalography (EEG) can evolve into a few types of epileptic syndromes. We present here an unusual case of early myoclonic encephalopathy that evolved into migrating partial seizures in infancy. A female neonate initially had erratic myoclonus movements,[…][ncbi.nlm.nih.gov]

  • Kearns-Sayre Syndrome

    Cardiac conduction disease affects patients with Kearns-Sayre syndrome. We report a young asymptomatic patient with Kearns-Sayre syndrome with abnormal conduction on electrocardiogram and Holter monitor, although not advanced atrioventricular block. She underwent prophylactic pacemaker placement, and rapidly[…][ncbi.nlm.nih.gov]

  • Molybdenum Cofactor Deficiency Type B

    Myopathy, Episodic, with or without Optic Atrophy and Reversible Leukoencephalopathy; MEOAL OMIM:500009 Mitochondrial Myopathy, Infantile, Transient; MMIT OMIM:551000 Mitochondrial[informatics.jax.org] Intermembrane Space Protein Tim12, Yeast, Homolog of OMIM:540000 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes; MELAS OMIM:251900 Mitochondrial[informatics.jax.org] 245400 Mitochondrial DNA Depletion Syndrome 9 (encephalomyopathic Type with Methylmalonic Aciduria); MTDPS9 OMIM:600851 Mitochondrial Import-Stimulating Factor OMIM:602252 Mitochondrial[informatics.jax.org]

  • Microspherophakia - Metaphyseal Dysplasia Syndrome

    Myopathy, Episodic, with or without Optic Atrophy and Reversible Leukoencephalopathy; MEOAL OMIM:500009 Mitochondrial Myopathy, Infantile, Transient; MMIT OMIM:551000 Mitochondrial[informatics.jax.org] Intermembrane Space Protein Tim12, Yeast, Homolog of OMIM:540000 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes; MELAS OMIM:251900 Mitochondrial[informatics.jax.org] 245400 Mitochondrial DNA Depletion Syndrome 9 (encephalomyopathic Type with Methylmalonic Aciduria); MTDPS9 OMIM:600851 Mitochondrial Import-Stimulating Factor OMIM:602252 Mitochondrial[informatics.jax.org]

  • Marfanoid Habitus with Situs Inversus

    Myopathy, Episodic, with or without Optic Atrophy and Reversible Leukoencephalopathy; MEOAL OMIM:500009 Mitochondrial Myopathy, Infantile, Transient; MMIT OMIM:551000 Mitochondrial[informatics.jax.org] Intermembrane Space Protein Tim12, Yeast, Homolog of OMIM:540000 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes; MELAS OMIM:251900 Mitochondrial[informatics.jax.org] 245400 Mitochondrial DNA Depletion Syndrome 9 (encephalomyopathic Type with Methylmalonic Aciduria); MTDPS9 OMIM:600851 Mitochondrial Import-Stimulating Factor OMIM:602252 Mitochondrial[informatics.jax.org]

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