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Genetic Recurrent Myoglobinuria


Presentation

  • This text brings together leading authorities presenting state-of-the-art clinical reviews covering the science, recognition, and treatment of the inherited metabolic epilepsies and related disorders.[books.google.com]
  • The clinical diagnostic circumstances observed in inborn errors of metabolism are divided in this chapter into eight categories: presentation in the neonatal period, intermittent late-onset acute presentation, progressive neurologic symptoms, ocular symptoms[ommbid.mhmedical.com]
  • Lipid metabolism disorder-induced myopathy can be clinically silent in childhood and/or present only with elevated creatine kinase (CK) levels.[annalsofian.org]
  • Depending on the underlying defect, some patients may present in infancy or early childhood, whereas others may not present until well into adulthood.[the-rheumatologist.org]
  • The m.4281A G mutation was present in the patient's muscle with a mutation load of 46% and was detected in trace amounts in urine and cheek mucosa.[utsouthwestern.influuent.utsystem.edu]
Physician
  • The thoroughly updated Twelfth Edition of this classic retains the organization, practicality, and readability that makes Merritt's Neurology one of the most popular texts among neurologists, primary care physicians, and residents reviewing for psychiatry[books.google.de]
  • The book concludes with a clinical algorithm designed to be a resource for the physician in search of direction when considering an inherited metabolic disorder as the explanation for a patient with epilepsy.[books.google.com]
  • This information is not intended to be patient education, does not create any patient-physician relationship, and should not be used as a substitute for professional diagnosis and treatment.[diseaseinfosearch.org]
  • ., State University of New York at Buffalo School of Medicine and Biomedical Sciences, Buffalo, New York Am Fam Physician. 2002 Mar 1;65(5):907-913.[aafp.org]
Epilepsy
  • […] in metabolic epilepsies.[books.google.com]
  • , Epilepsy in X-linked Intellectual Disability, Early Infantile Encephalopathy, Childhood Onset Epilepsy, Juvenile Myoclonic Epilepsy, Channelopathies, Cytochrome P450 genes,.[sciencewerkedx.com]
  • Lafora disease, better known as a progressive myoclonus epilepsy, is also a polyglucosan storage disease. • The differential diagnosis of glycogenoses with exercise intolerance, cramps, and myoglobinuria includes other metabolic myopathies, especially[medlink.com]
  • POLG mutations: may result in AD or AR CPEO, Alpers syndrome (an AR disorder with epilepsy, cortical blindness, and liver failure), and noted in patients who present with progressive external ophthalmoplegia and develop PD in later life. 26.[slideshare.net]
Movement Disorder
  • Truong, MD, Head, The Parkinson’s and Movement Disorders Institute, Orange Coast Memorial Medical Center, Fountain Valley, California, USA William Carroll, MD, Head, Department of Neurology, Sir Charles Gairdner Hospital, Nedlands, Western Australia,[books.google.de]
  • Features of mitochondrial disease may include: Central nervous system: seizures, myoclonus, ataxia, hypotonia, spasticity, chorea, dystonia, tremor, movement disorder, “stroke-like” events, headaches, migraine, central apnea, developmental delays, developmental[sciencewerkedx.com]
  • Phenotype Global developmental delay, microcephaly, epilepsy, movement disorders and other CNS manifestations may be seen. Muscle symptoms include hyperCKaemia and RM [ 98, 99 ].[ojrd.biomedcentral.com]
Chronic Fatigue Syndrome
  • It is important for clinicians to be aware of this condition, which in several cases has been misdiagnosed as chronic fatigue syndrome or fibromyalgia .[bredagenetics.com]
Muscular Atrophy
  • He is currently involved in multiple clinical trials of novel genetic interventions for the treatment of spinal muscular atrophy and Duchenne muscular dystrophy.[books.google.de]
  • MND include 1) primary lateral sclerosis (PLS), 2) primary muscular atrophy (PMA), and 3) amyotrophic lateral sclerosis (ALS). In PLS and PMA, the motor neuron degeneration is limited to the upper motor neuron and lower motor neuron, respectively.[mayomedicallaboratories.com]
  • Myophosphorylase deficiency: a new cause of infantile hypotonia simulating infantile muscular atrophy. Neurology 1980 ;30: 402 - 402 abstract. 20. Milstein JM, Herron TM, Haas EJ. Fatal infantile phosphorylase deficiency.[nejm.org]
  • Figure 1 Photograph of the patient showing scapular winging and mild generalised muscular atrophy.[jmg.bmj.com]
Hydrops Fetalis
  • Stay at the forefront of your field thanks to new and completely revised chapters covering topics such as: Principles and Practice l Immune and Non-immune Hydrops Fetalis l Amniotic Fluid Volume l Enhancing Safe Prescribing in the Neonatal Intensive Care[books.google.com]
Encephalopathy
  • […] white matter, vasculitis, normal pressure hydrocephalus, neuromyelitis optica, Kennedy disease, spinal muscular atrophy, complex regional pain syndrome, disorders of DNA translation, the immune restoration inflammatory syndrome (IRIS), and Hashimoto encephalopathy[books.google.de]
  • Neurol. (1983) [ Pubmed ] Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: a new cause for recurrent myoglobinuria and encephalopathy.[wikigenes.org]
  • Myoneuro-gastrointestinal encephalopathy (MNGIE) Autosomal recessive Multiple deletions and depletion of mtDNA. Mutations in thymidine phosphorylase in Ch 22. Thymidine phosphorylase activity is reduced and plasma thymidine levels are elevated.[slideshare.net]
  • "Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA." Neurology 60(8):1357-1359. 20. Dumoulin, R., Sagnol, I., Ferlin, T., Bozon, D., Stepien, G. and Mousson, B. (1996).[mitomap.org]
  • , Menkes Syndrome, Mowat-Wilson Syndrome, Rett, Atypical Rett Syndromes, Inherited Metabolic Diseases, Mitochondrial Dysfunction, Glycosylation Disorders, Idiopathic Generalized Epilepsy, Epilepsy in X-linked Intellectual Disability, Early Infantile Encephalopathy[sciencewerkedx.com]
Guillain-Barré Syndrome
  • Psychiatry related information on Myoglobinuria Less common, but more striking, illnesses attributed to substance abuse include ATM, a subacute myeloradiculoneuropathy resembling combined systems disease, Guillain-Barré syndrome, plexitis, fulminant axonal[wikigenes.org]
Kidney Failure
  • One of the dreaded complications of rhabdomyolysis is kidney failure. This can occur for a variety of reasons.[medicinenet.com]
  • The release of massive amounts of muscle proteins into the circulation can lead to kidney failure, which can be very serious. Fortunately, with early and proper treatment, many athletes who develop rhabdomyolysis can make a complete recovery.[athleteinme.com]
  • The myoglobin protein can also damage the kidneys and lead to develop life-threatening kidney failure if not treated promptly.[rarediseases.org]
  • One fourth of TRAPS patients develop amyloidosis, an abnormal buildup of a protein called amyloid in the kidneys that can lead to kidney failure. The age of onset is variable.[bredagenetics.com]

Workup

  • Because these symptoms may be nonspecific and lack any clear temporal or anatomic pattern, their workup may entail costly and uninformative tests.[the-rheumatologist.org]
  • Rhabdomyolysis: Differential Diagnoses and Workup. eMedicine 2009. Baxter R, Moore J. Diagnosis and Treatment of Acute Exertional Rhabdomyolysis. Journal of Orthopaedic and Sports Physical Therapy 2003; 33(3): 104-108[physio-pedia.com]

Treatment

  • Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout.[books.google.com]
  • He is currently involved in multiple clinical trials of novel genetic interventions for the treatment of spinal muscular atrophy and Duchenne muscular dystrophy.[books.google.de]
  • Endovascular Treatment of Chronic Venous Occlusion 286. Endovascular Laser Treatment of Varicose Veins 287. Endovascular Radiofrequency Treatment of Varicose Veins 288. Injection Treatment of Lower Extremity Varicose Veins 289.[euro-libris.ro]
  • Knowing the genetic basis of a patient’s condition is valuable for obtaining a definitive diagnosis, estimating prognosis, determining recurrence risks, and guiding treatment choices.[sciencewerkedx.com]

Prognosis

  • Knowing the genetic basis of a patient’s condition is valuable for obtaining a definitive diagnosis, estimating prognosis, determining recurrence risks, and guiding treatment choices.[sciencewerkedx.com]
  • What is the prognosis for rhabdomyolysis? The overall prognosis of rhabdomyolysis is favorable as long as it is recognized and treated promptly. Most causes of rhabdomyolysis reversible.[medicinenet.com]

Etiology

  • Etiology Mutations in the mitochondrial DNA -encoded cytochrome C oxidase genes ( MT-CO1 and MT-CO2 ) should be considered in patients with recurrent myoglobinuria.[rarediseases.info.nih.gov]
  • In 183 short chapters, the book provides the essentials clinicians need on symptoms/signs, diagnostic tests, and neurologic disorders of all etiologies. For this edition, Timothy A.[books.google.de]
  • AB - The differential diagnosis of myoglobinuria includes multiple etiologies, such as infection, inflammation, trauma, endocrinopathies, drugs toxicity, and primary metabolic disorders.[utsouthwestern.influuent.utsystem.edu]
  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • Presentation in the Neonatal Period: “Neonatal Metabolic Distress” Identification of children at risk Initial approach Clinical approach to etiology in metabolic diseases ( Tables 66-2, 66-3 ) Type I: neurologic deterioration, intoxication type, with[ommbid.mhmedical.com]

Epidemiology

  • Epidemiology The exact prevalence remains unknown. Clinical description In the majority of cases, the disease manifests in childhood and is often triggered by exertion or infection (febrile illness).[rarediseases.info.nih.gov]
  • Epidemiology [ edit ] This section is empty. You can help by adding to it. ( October 2015 ) References [ edit ] Further reading [ edit ] Pedley, edited by Lewis P. Rowland, Timothy A. (2010). Merritt's neurology (12th ed.).[en.wikipedia.org]
  • Relevant External Links for LPIN1 Genetic Association Database (GAD) LPIN1 Human Genome Epidemiology (HuGE) Navigator LPIN1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: LPIN1 No data available for Genatlas for LPIN1 Gene The associations[genecards.org]
  • Epidemiology The exact incidence of rhabdomyolysis varies with the underlying cause, but levels increase with natural disasters - eg, earthquakes and in war zones. [ 3 ] Rhabdomyolysis is estimated to account for 7-8% of all new cases of acute kidney[patient.info]
  • Epidemiologic, biochemical, renal, and coagulation studies . JAMA 234 : 824 – 828 . Olerud , J.E. , Homer , L.D. , Carroll , H.W. ( 1975 ). Serum myoglobin levels predicted from serum enzyme levels . N. Engl. J. Med . 293 : 483 – 484 .[cambridge.org]
Sex distribution
Age distribution

Pathophysiology

  • […] edit ] Myoglobinuria pathophysiology consists of a series of metabolic actions in which damage to muscle cells affect calcium mechanisms, thereby increasing free ionized calcium (cytoplasm).[en.wikipedia.org]
  • Rhabdomyolysis and Other Causes of Myoglobinuria In this article Pathophysiology Statins and myotoxicity Rhabdomyolysis can be defined as a clinical syndrome associated with the breakdown of skeletal muscle fibres and myocyte cell membranes, leading to[patient.info]
  • The second category can be subdivided on the basis of pathophysiology into three groups that are useful for diagnosis. Group 1.[ommbid.mhmedical.com]
  • The syndrome of rhabdomyolysis: Pathophysiology and diagnosis. Eur J Intern Med. 2007 Mar. 18(2):90-100. [Medline]. Kilfoyle D, Hutchinson D, Potter H, George P.[emedicine.medscape.com]
  • The following algorithms are available in Special Instructions: -Inherited Motor Neuron Disease Testing Algorithm -Neuromuscular Myopathy Testing Algorithm Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they[mayomedicallaboratories.com]

Prevention

  • Knowledge of the pathogenesis, genetics, and molecular biology of neuromuscular disorders is essential both in developing and applying new therapies and preventive measures, and in formulating genetic and prognostic advice.[books.google.com]
  • Collaborative Meta-Analysis of Randomised Trials of Antiplatelet Therapy for Prevention of Death, Myocardial Infarction, and Stroke in High Risk Patients. ‎[books.google.es]
  • The goal is to induce a brisk diuresis to prevent myoglobin precipitation and deposition, which can cause acute kidney injury. Mannitol can be added to assist with diuresis.[en.wikipedia.org]
  • Initial treatment focuses on preventing myoglobin precipitation in the urine by inducing and maintaining a brisk diuresis.[emedicine.medscape.com]
  • The enzyme deficiency prevents the transportation of fatty acids to the mitochondrion for beta oxidation and later ATP synthese.[revistanefrologia.com]

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