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83 Possible Causes for Generalized Dystonia, Myopathy, Oliguria

  • Rhabdomyolysis

    (2) Crush Injury and Trauma In crush injury and other forms of trauma, rhabdomyolysis is generally due to direct muscle injury and ischaemia.[baggas.tripod.com] Due to oliguria, renal replacement therapy was initiated. An etiological investigation revealed a beta-oxidation defect.[ncbi.nlm.nih.gov] […] for patients with mitochondrial myopathies. 5 Conclusion Mitochondrial myopathies should be considered in patients presenting with recurrent muscle pain and elevation of[jaoa.org]

  • Myoglobinuria

    We studied an 8-year-old boy of non-Jewish, Mexican-American descent with autosomal-dominant dystonia musculorum deformans who developed rapidly progressive and severe generalized[ncbi.nlm.nih.gov] Each child had oliguria, elevated muscle enzymes, and pigmented urine positive for blood, but without red cells on microscopic examination.[ncbi.nlm.nih.gov] We report on a 23-year-old man in whom recurrent myoglobinuria was observed due to necrotizing vacuolar myopathy confirmed on muscle biopsy.[ncbi.nlm.nih.gov]

  • Oppenheim Disease

    Treatment: Treatment options include botulinum toxin injections for focal symptoms, pharmacological therapy such as anticholinergics for generalized dystonia and surgical[medigoo.com] オリゴ尿症編 Oliguria 428Hz 天界とつながるエレメント Element connected to heavenly world. オリエ病編 Ollier's Disease 428Hz 天界とつながるエレメント Element connected to heavenly world.[healingfrequency.jimdo.com] […] and Turner), nemaline myopathy, and central core disease.[jnnp.bmj.com]

  • Woodhouse Sakati Syndrome

    The index patient was a 25-year-old woman who presented with generalized dystonia involving the trunk and all four limbs.[cags.org.ae] Norrie disease Spinocerebellar ataxia 8 Supernumerary nipple Hereditary sensory and autonomic neuropathy type 7 Ehlers-Danlos syndrome, cardiac valvular type Welander distal myopathy[checkrare.com] In a majority of individuals, dystonia becomes generalized and disabling ( Figure 1B, 1F, 1H ). Progressive dystonia of the trunk may lead to severe dystonic scoliosis.[ncbi.nlm.nih.gov]

  • Familial Isolated Dilated Cardiomyopathy

    […] limb-onset dystonia Myoclonus-dystonia syndrome Chronic intestinal pseudoobstruction Congenital short bowel syndrome Congenital valvular dysplasia Ehlers-Danlos syndrome[csbg.cnb.csic.es] A 37-year-old male patient presented with history of palpitation of 15 days duration followed by oliguria.[ijpmonline.org] Synonyms: Centronuclear myopathy [Disease Ontology: DOID:14717 ] Disease Ontology: DOID:14717 Orphanet: ORPHA169186 Disease: Cardiomyopathy, dilated, 1G; CMD1G Synonyms:[guidetopharmacology.org]

  • MELAS Syndrome

    ; alternating with ataxia, dystonia, choreoathetosis and spastic paraplegia.[oatext.com] Oliguria can be associated with MELAS and can indicate the onset of nephrotic syndrome. Physical: Myopathy presents with hypotonia and weakness on physical examination.[markalewis.com] Abstract Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a rare neurodegenerative disease caused by the decreased ability[ncbi.nlm.nih.gov]

  • Dilated Cardiomyopathy Type 2B

    9/GLUT1 deficiency syndrome 1, infantile onset, severe/GLUT1 deficiency syndrome 2, childhood onset/Epilepsy, idiopathic generalized, susceptibility to, 12 138140 EPI Epilepsy[lhsc.on.ca] Commonly reported fetal abnormalities include hypotension, renal dysplasia, anuria/oliguria, oligohydramnios, intrauterine growth retardation, pulmonary hypoplasia, patent[en.wikipedia.org] .3,4 Furthermore myotilin mutations have now been demonstrated in myofibrillar myopathy, or desmin-related myopathy, as well as in LGMD1A.5 These observations and several[books.google.com]

  • Malignant Hyperthermia - Arthrogryposis - Torticollis

    2 dystonia, focal/Meige syndrome 1 dystonia, generalized, adult onset, progressive 1 dystonia, generalized, childhood onset 1 dystonia, generalized, familial 1 dystonia,[msdiscovery.org] […] constipation 【胼胝】*tyloma ( 皮膚肥厚) (ボ) 【ボーエン病】*Bowen's disease (乏) 【乏血症】*oligemia 【乏突起膠芽腫】*oligodendroblastoma ( 希突起膠芽腫) 【乏突起膠細胞腫】【乏突起膠腫】*oligodendrocytoma ( 希突起膠細胞腫、希突起膠腫) 【乏尿症】*oliguria[medo.jp] […] rigidity;mdrs1, multicore myopathy, severe classic form, minicore myopathy, severe classic form, multiminicore disease, severe classic form, desmin-related myopathy with[mendelian.co]

  • Genetic Recurrent Myoglobinuria

    Severe dystonia and myoglobinuria. Neurology 32 : 1195 – 1197. Jardon, O.M. ( 1982 ). Physiologic stress, heat stroke, malignant hyperthermia—a perspective.[cambridge.org] He was found to be normotensive, without fever, presenting serious oedemas in lower limbs and with oliguria.[revistanefrologia.com] Mitochondrial Myopathies Mitochondrial myopathies are emerging as a more frequent cause of metabolic myopathy than previously recognized.[the-rheumatologist.org]

  • Autosomal Dominant Myoglobinuria

    Cognitive impairment Ataxia Generalized hypotonia Intellectual disability Distal upper limb amyotrophy Mild proteinuria Distal lower limb amyotrophy Axonal loss Onion bulb[mendelian.co] […] in a more alkaline environment Protocol Saline 0.45% (1/2 NS) with Sodium Bicarbonate 40 meq (1 to 2 ampules) and Mannitol 10 grams per liter Contraindications Persistent Oliguria[fpnotebook.com] Elsevier Health Sciences, ٢٣‏/٠٧‏/٢٠١٤ - 14 من الصفحات Congential myopathies, Muscular dystropies, Glycogen storage diseases of muscle, and Idiopathic and Inflammatory myopathies[books.google.com]

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