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Current Treatment Options in Neurology Sep 2017Metabolic myopathies are disorders affecting utilization of carbohydrates or fat in the skeletal muscle. Adult patients with metabolic myopathies typically present with... (Review)
Review
Metabolic myopathies are disorders affecting utilization of carbohydrates or fat in the skeletal muscle. Adult patients with metabolic myopathies typically present with exercise-induced pain, contractures or stiffness, fatigue, and myoglobinuria. Symptoms are related to energy failure. Purpose of review In this review, the current treatment options, including exercise therapy, dietary treatment, pharmacological supplementation, gene transcription, and enzyme replacement therapy, are described. Recent findings Recognition of the metabolic block in the metabolic myopathies has started the development of new therapeutic options. Enzyme replacement therapy with rGAA has revolutionized treatment of early onset Pompe disease. Supplements of riboflavin, carnitine, and sucrose show promise in patients with respectively riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency, primary carnitine deficiency, and McArdle disease. Treatment with citric acid cycle intermediates supply by triheptanoin seems promising in patients with glucogenoses, and studies are ongoing in patients with McArdle disease. Summary Treatment of metabolic myopathies primarily relies on avoiding precipitating factors and dietary supplements that bypass the metabolic block. Only a few of the used supplements are validated, and further studies are needed to define efficacious treatments. Further potential treatment targets are molecular therapies aimed at enzyme correction, such as chaperone therapy, gene therapy, gene expression therapy, and enzyme replacement therapies.
PubMed: 28932990
DOI: 10.1007/s11940-017-0473-2 -
JBI Database of Systematic Reviews and... Jun 2016Exertional rhabdomyolysis (ER) is the breakdown of skeletal muscle tissue following intense physical activity that results in impairment of the cell membrane, which... (Review)
Review
BACKGROUND
Exertional rhabdomyolysis (ER) is the breakdown of skeletal muscle tissue following intense physical activity that results in impairment of the cell membrane, which allows intracellular contents to be released into the bloodstream. Signs and symptoms include myalgia, myoglobinuria and increased creatine kinase (CK) levels. Athletes are vulnerable to this condition due to their increased level of physical activity. The severity and effects of this condition vary between individuals; however, all athletes are at risk of significant muscle damage, renal failure and perhaps death if not recognized and treated quickly. Effective methods for treatment and return to activity following this condition should be established.
OBJECTIVES
The objective of this review was to identify effective treatment methods associated with ER in athletes.
INCLUSION CRITERIA TYPES OF PARTICIPANTS
Adult and adolescent patients (15 years of age and older) in the athletic population who have been diagnosed with ER.
TYPES OF INTERVENTIONS
Fluid resuscitation/replacement or other treatment methods that aim to improve CK levels and decrease myoglobinuria and treat ER.
TYPES OF STUDIES
Due to the absence of randomized control trials, the quantitative component of the review considered descriptive studies, case series and individual case reports for inclusion.
PRIMARY OUTCOMES
CK and myoglobinuria levels.
SECONDARY OUTCOMES
length of hospital stay; length of time from diagnosis to premorbid levels of physical activity.
SEARCH STRATEGY
A comprehensive search of the following databases with no date limitation was conducted: CINAHL, PubMed, ProQuest, Embase, SPORTDiscus and Physical Education Index. Results were limited to those available in English.
METHODOLOGICAL QUALITY
Two independent reviewers evaluated the retrieved articles for methodological quality using the standardized critical appraisal instrument from the Joanna Briggs Institute Meta-Analysis of Statistics and Review Instruments.
DATA EXTRACTION
Data were extracted from the articles by two independent reviewers using the standardized Joanna Briggs Institute extraction tool.
DATA SYNTHESIS
Narrative and tabular synthesis.
RESULTS
Fourteen studies with a combined total of 53 participants were included. Aggressive intravenous (IV) fluid resuscitation was found to be the most commonly utilized treatment method for decreasing CK levels and resolving myoglobinuria. The addition of compounds within the IV fluid varied between studies.
CONCLUSION
Due to the types of included studies and variation in reported treatment methods and outcomes for ER among athletes, effectiveness of treatment could not be determined. The limited evidence available indicates that IV fluid replacement, specifically normal saline, is the most commonly reported treatment for decreasing CK levels and myoglobinuria following ER. It appears that normal saline may be combined with other compounds including sodium bicarbonate, sodium chloride or potassium chloride to achieve reduction of CK levels and myoglobinuria. Clinically, early IV fluid replacement appears to be delivered at a rate of approximately 400 ml/hour, with adjustments ranging between 200 and 1000 ml/hour, depending on severity and volume states. Hospitalization time varies, depending on severity of condition, and return to activity is widely inconsistent among the athletic population.
Topics: Adolescent; Adult; Athletes; Hospitalization; Humans; Length of Stay; Muscle, Skeletal; Rhabdomyolysis; Sports
PubMed: 27532656
DOI: 10.11124/JBISRIR-2016-001879 -
Internal Medicine Journal Aug 2018
Topics: Humans; Myoglobinuria
PubMed: 30133983
DOI: 10.1111/imj.13987 -
Revue Neurologique Oct 2016Metabolic myopathies encompass muscle glycogenoses (GSD) and disorders of muscle fat oxidation (FAOD). FAODs and GSDs can be divided into two main clinical phenotypes;... (Review)
Review
Metabolic myopathies encompass muscle glycogenoses (GSD) and disorders of muscle fat oxidation (FAOD). FAODs and GSDs can be divided into two main clinical phenotypes; those with static symptoms related to fixed muscle weakness and atrophy, and those with dynamic, exercise-related symptoms that are brought about by a deficient supply of ATP. Together with mitochondrial myopathies, metabolic myopathies are unique among muscle diseases, as the limitation in exercise performance is not solely caused by structural damage of muscle, but also or exclusively related to energy deficiency. ATP consumption can increase 50-100-fold in contracting, healthy muscle from rest to exercise, and testing patients with exercise is therefore an appropriate approach to disclose limitations in work capacity and endurance in metabolic myopathies. Muscles rely almost exclusively on muscle glycogen in the initial stages of exercise and at high work intensities. Thus, patients with GSDs typically have symptoms early in exercise, have low peak work capacities and develop painful contractures in exercised muscles. Muscle relies on fat oxidation at rest and to a great extent during prolonged exercise, and therefore, patients with FAODs typically develop symptoms later in exercise than patients with GSDs. Due to the exercise-related symptoms in metabolic myopathies, patients generally have been advised to shun physical training. However, immobility is associated with multiple health issues, and may even cause unwanted metabolic adaptations, such as increased dependence on glycogen use and a reduced capacity for fatty acid oxidation, which is detrimental in GSDs. Training has not been studied systematically in any FAODs and in just a few GSDs. However, studies on single bouts of exercise in most metabolic myopathies show that particularly moderate intensity aerobic exercise is well tolerated in these conditions. Even low-intensity resistance training of short duration is tolerated in McArdle disease. Training in patients with FAOD potentially can also expand the metabolic bottleneck by increasing expression of the defective, but partially functional enzyme. Exercise performance in metabolic myopathies can be improved by different fuel supplementations and dietary interventions and should be considered as adjunct therapy to exercise training.
Topics: Exercise Therapy; Humans; Metabolic Diseases; Muscular Diseases
PubMed: 27663059
DOI: 10.1016/j.neurol.2016.08.005 -
Clinical Reviews in Allergy & Immunology Feb 2017Renal involvement in idiopathic inflammatory myopathies is not as uncommon as was previously thought, as it develops in about one fifth of patients. Clinical... (Review)
Review
Renal involvement in idiopathic inflammatory myopathies is not as uncommon as was previously thought, as it develops in about one fifth of patients. Clinical presentation includes either acute kidney injury or chronic glomerulonephritis. The former usually develops abruptly during acute phases of rhabdomyolysis: in this case, kidney injury is caused by the toxic effects that myoglobinuria has on the kidney tubules, including cast formation and iron-induced oxidative stress and the development of a third space into the injured muscles. The latter instead has an autoimmune nature, a pleomorphic histological picture, and a more indolent course, with the exception of crescentic glomerulonephritis. Accurate diagnosis and management is crucial for these patients, as timely evaluation and treatment can prevent most of the complications. In the setting of rhabdomyolysis-induced acute kidney injury, the necessity of dialysis can be avoided through aggressive hydration and alkalinization, in order to force diuresis and avoid acidosis and hyperkalemia. In immune-mediated glomerulonephritis, renal biopsy is of undoubtedly value in the diagnostic process and can add prognostic and therapeutic information. In these forms, the development of chronic kidney disease can be prevented or at least delayed by the institution or modification of immunosuppressive treatment. Moreover, the use of drugs that inhibit the renin-angiotensin-aldosterone system and some lifestyle modifications, such as smoking cessation, weight loss, and salt restriction have also value in reducing proteinuria and the progression of kidney damage. In this review, we have summarized the currently available evidence and the different case series in an attempt to provide the readers with the most complete and practical notions that are needed to handle these delicate patients.
Topics: Humans; Kidney Diseases; Myositis
PubMed: 26590948
DOI: 10.1007/s12016-015-8524-5 -
Canadian Family Physician Medecin de... May 2017I recently evaluated a child in my clinic after an emergency department visit where she presented having woken up that morning refusing to walk and was crawling around...
I recently evaluated a child in my clinic after an emergency department visit where she presented having woken up that morning refusing to walk and was crawling around the house. The parents reported she was getting over a cold, and I recall similar cases of myositis during the H1N1 influenza epidemic a few years ago. What are the key features of myositis that I should recognize? Which investigations are needed to confirm the diagnosis and how should affected patients be managed? Benign acute childhood myositis is a mild and self-limited sudden onset of lower extremity pain during or following recovery from a viral illness. Presentation can include tiptoe gait or refusal to walk, secondary to symmetric bilateral lower extremity pain that resolves quickly, usually within 3 days. In general, no investigation is needed except in severe cases for which screening bloodwork and a urine myoglobin test can confirm the diagnosis and rule out complications. Myoglobinuria and highly elevated creatine phosphokinase levels are rare but should be a consideration for admission to hospital. Prognosis is excellent and management might include rest and analgesia.
Topics: Child; Choline Kinase; Diagnosis, Differential; Female; Humans; Influenza A Virus, H1N1 Subtype; Influenza B virus; Influenza, Human; Male; Myositis; Walking
PubMed: 28500193
DOI: No ID Found -
Diagnostics (Basel, Switzerland) Sep 2023Crush syndrome (CS), also known as traumatic rhabdomyolysis, is a syndrome with a wide clinical spectrum; it is caused by external compression, which often occurs in... (Review)
Review
Crush syndrome (CS), also known as traumatic rhabdomyolysis, is a syndrome with a wide clinical spectrum; it is caused by external compression, which often occurs in earthquakes, wars, and traffic accidents, especially in large-scale disasters. Crush syndrome is the second leading cause of death after direct trauma in earthquakes. A series of clinical complications caused by crush syndrome, including hyperkalemia, myoglobinuria, and, in particular, acute kidney injury (AKI), is the main cause of death in crush syndrome. The early diagnosis of crush syndrome, the correct evaluation of its severity, and accurate predictions of a poor prognosis can provide personalized suggestions for rescuers to carry out early treatments and reduce mortality. This review summarizes various methods for the diagnostic and predictive evaluation of crush syndrome, including urine dipstick tests for a large number of victims, traditional and emerging biomarkers, imaging-assisted diagnostic methods, and developed evaluation models, with the aim of providing materials for scholars in this research field.
PubMed: 37835777
DOI: 10.3390/diagnostics13193034 -
Seminars in Pediatric Neurology Nov 2016Mitochondrial diseases exhibit significant clinical and genetic heterogeneity. Mitochondria are highly dynamic organelles that are the major contributor of adenosine... (Review)
Review
Mitochondrial diseases exhibit significant clinical and genetic heterogeneity. Mitochondria are highly dynamic organelles that are the major contributor of adenosine triphosphate, through oxidative phosphorylation. These disorders may be developed at any age, with isolated or multiple system involvement, and in any pattern of inheritance. Defects in the mitochondrial respiratory chain impair energy production and almost invariably involve skeletal muscle and peripheral nerves, causing exercise intolerance, cramps, recurrent myoglobinuria, or fixed weakness, which often affects extraocular muscles and results in droopy eyelids (ptosis), progressive external ophthalmoplegia, peripheral ataxia, and peripheral polyneuropathy. This review describes the main neuromuscular symptomatology through different syndromes reported in the literature and from our experience. We want to highlight the importance of searching for the "clue clinical signs" associated with inheritance pattern as key elements to guide the complex diagnosis process and genetic studies in mitochondrial diseases.
Topics: Child; Humans; Mitochondrial Diseases; Neuromuscular Diseases
PubMed: 28284391
DOI: 10.1016/j.spen.2016.11.004 -
Forensic Science International Mar 2018Detainees may be subjected to torture and extra-judicial execution by State actors and terrorists. But, the pathology of torture has not been well-described. This is due...
Detainees may be subjected to torture and extra-judicial execution by State actors and terrorists. But, the pathology of torture has not been well-described. This is due to the lack of autopsies performed on victims of torture, mostly due to the disposal of the bodies of the victims by their torturers. On this basis, the cause of death of detainees subjected to torture is often a matter of speculation or remains obscure. This paper provides an overview of the pathology of torture based on the authour's experience with the autopsies of torture victims. At autopsy, many different types of inflicted injuries may be observed, often ranging in severity. However, three recurrent patterns of trauma that are the hallmarks of torture were recognized by the authour: (1) blunt impact trauma characterized by bruises, patterned injuries, and internal injuries; (2) electrical and thermal injuries; and (3) injuries from stress positions that occur from prolonged suspension. The most under-recognized form of fatal torture are the complications of stress positions related to suspension of the victim's body by the upper, or lower extremities. For example, prolonged suspension by reverse hanging (suspension of the victim's body by the wrists or forearms with the arms extended backward at the shoulder joint) can cause over-stretching and necrosis of the muscles of the shoulder, resulting in fatal myoglobinuric renal failure. It is essential that autopsies be performed on all detainees who die in custody, to determine if torture played a role in death. Furthermore, the true nature of the injuries sustained often remains obscure unless a musculocutaneous dissection is performed. Specifically, dissection of the back, limbs and the soles of the feet, as well as the shoulders and knees is essential to determine if specific forms of torture have been applied. This is especially true for fatal complications of stress positions. Seeking the truth about the medical consequences of fatal torture will raise awareness about torture-related injuries, assist in rehabilitation of torture survivors, and strengthen forensic humanitarian action.
Topics: Acute Kidney Injury; Arrhythmias, Cardiac; Asphyxia; Autopsy; Community-Acquired Infections; Disease Outbreaks; Forensic Pathology; Hematoma; Humans; Myoglobinuria; Posture; Prisoners; Sepsis; Shock, Hemorrhagic; Starvation; Stress, Mechanical; Stress, Physiological; Suicide; Torture; Water Deprivation; Wounds and Injuries
PubMed: 29367172
DOI: 10.1016/j.forsciint.2017.12.022 -
Neurologic Clinics Aug 2014Metabolic and mitochondrial myopathies encompass a heterogeneous group of disorders that result in impaired energy production in skeletal muscle. Symptoms of premature... (Review)
Review
Metabolic and mitochondrial myopathies encompass a heterogeneous group of disorders that result in impaired energy production in skeletal muscle. Symptoms of premature muscle fatigue, sometimes leading to myalgia, rhabdomyolysis, and myoglobinuria, typically occur with exercise that would normally depend on the defective metabolic pathway. But in another group of these disorders, the dominant muscle symptom is weakness. This article reviews the clinical features, diagnosis, and management of these diseases with emphasis on the recent literature.
Topics: Adult; Female; Glycogen Storage Disease; Humans; Lipid Metabolism Disorders; Mitochondrial Myopathies; Muscle, Skeletal; Muscular Diseases; Young Adult
PubMed: 25037090
DOI: 10.1016/j.ncl.2014.05.001