Oct 19, 2016 background metabolic myopathies refer to a group of hereditary muscle disorders caused by specific enzymatic defects due to defective genes. The authors did not combine the genes into one large panel for cost. Metabolic myopathies mm are rare inherited primary muscle disorders that are mainly due to abnormalities of muscle energy metabolism resulting in skeletal muscle dysfunction. Patients may present with indolent myopathic features, exercise intolerance or recurrent rhabdomyolysis. Metabolic myopathies article about metabolic myopathies by. Congenital myopathies metabolic myopathies mitochondrial myopathies muscular dystrophies myotonias acquired druginduced myopathies endocrine myopathies in.
Acidosis results in compensatory tachypnea, and a characteristic fruity acetone breath odor can often be detected. Congenital myopathies account for one of the top neuromuscular disorders in the world today, comprising approximately 6 in 100,000 live births every year. Turnbull muscle contraction is dependent on the highenergy molecule adenosine triphosphate atp, and deficiency of atp synthesis leads to premature muscle fatigue and weakness. With appropriate activity changes, regular aerobic exercise, diet and use of supplements, the symptoms often can be controlled. Living with metabolic myopathies everyone has run out of energy, become tired when doing physical activities, or experienced muscle pains and cramps after exercising. Metabolic myopathy refers to a group of disorders that limit production of adenosine triphosphate atp 105. However, for some, these are the symptoms coming from metabolic myopathy. Metabolic myopathies are rare genetic diseases that cause muscle problems. The main symptom of most of the metabolic myopathies is difficulty performing some types of exercise, a situation known as exercise intolerance, in which the person becomes tired very easily. This defect primarily affects skeletal muscle fibres and causes muscular weakness andor hypotonia.
Clinical features and diagnosis neuromuscular junction disorders in newborns and infants. Metabolic myopathies muscular dystrophy association. Dietary intervention rescues myopathy associated with. Metabolic myopathies definition of metabolic myopathies.
Bss was initially considered, especially in wartime, as a psychogenic disorder. Pdf integrative data mining highlights candidate genes. Prevalence of metabolic syndrome among adults 20 years of age and over, by sex, age, race and ethnicity, and body mass index. Patients with rhabdomyolysis warrant inpatient and critical care admission to manage potentially lifethreatening renal complications and hyperkalemia. Metabolic myopathies are inborn errors of metabolism that result in impaired energy production due to defects in glycogen, lipid, mitochondrial, and possibly adenine nucleotide metabolism. Metabolic myopathies are myopathies that result from defects in biochemical metabolism that primarily affect muscle. A panel for early detection, management, and risk stratification in the west virginian population krithika srikanthan 1, andrew feyh, haresh visweshwar, joseph i. Two eminently treatable genetic metabolic myopathies.
Metabolic myopathies are genetic disorders that impair intermediary metabolism in skeletal muscle. Metabolic syndrome is a progressive condition that encompasses a wide array of disorders with specific metabolic abnormalities presenting at different times. Background metabolic myopathies refer to a group of hereditary muscle disorders caused by specific enzymatic defects due to defective genes. Metabolic refers to chemical reactions that provide energy, nutrients and substances necessary for health and growth. Treatment for metabolic myopathies varies by myopathy, but is focused on changes in physical activities, aerobic exercise training, changes in diet, and the use of various vitamins or supplements. Fatty acid oxidation defects faod, glycogen storage disease, and mitochondrial myopathies represent the 3 main groups of disorders, and some consider. Metabolic myopathies article about metabolic myopathies. Metabolomics 2 metabolome metabolome refers to the complete set of smallmolecule metabolites such as metabolic intermediates, hormones and other signaling molecules, and secondary metabolites to be found within a biological sample, such as a single. Metabolic syndrome is a cluster of metabolic risk factors that come together in a single individual.
Request pdf dietary intervention rescues myopathy associated with. It is now recognized that in addition to psychiatric syndromes, many cases of reducible bss have a somatic. Another alarming trend is the increased incidence of metabolic syndrome in young people. The prevalence of metabolic syndrome varies by defini tion used and population studied. This article provides an overview of the most common metabolic myopathies. The goal of treatment is to control symptoms and minimize progression of muscle weakness. The recognition of a series of metabolicenzymatic dysfunction in metabolic myopathies has allowed new therapeutic advances.
Metabolic myopathies should be considered in the differential diagnosis of exercise intolerance, and a detailed clinical approach will help determine which of the three main disorders glycogenoses, lipidrelated disorders, or mitochondrial diseases is the underlying cause. The most recent ones are enzymatic replacement therapy ert in. The neuromuscular clinic and research unit at rigshopsitalet was founded in 1998. Accordingly, the three main categories of metabolic myopathies are glycogen storage diseases, fatty acid oxidation defects, and mitochondrial disorders due to.
Metabolic myopathies understanding of the pathophysiology underlying the metabolic myopathies provides unique insights into the normal regulation of muscle metabolism. Detailed descriptions of the different disorders are. An update on diagnosis and therapy of metabolic myopathies. It now has a staff of approximately 40 fulltime employees. Most patients with a metabolic myopathy eg, glycogen storage diseases, carnitine palmitoyltransferase deficiency have dynamic rather than. These metabolic factors include insulin resistance, hypertension high blood pressure, cholesterol abnormalities, and an increased risk for blood clotting. Myopathies related to glycogen metabolism disorders europe pmc. Diagnostic delays are common and clinicians need a high index of suspicion to recognise and differentiate metabolic myopathies from other conditions that present in. Metabolic myopathies are heterogeneous conditions that have common abnormalities of muscle energy metabolism that result in skeletal muscle dysfunction. Forearm exercise testing can often be an important part of the evaluation of a patient with a suspected metabolic myopathy. Edwards school of medicine, marshall university, usa 2.
Longterm subcutaneous immunoglobulin use in inflammatory myopathies. Serum activities of ckmm may be increased in a number of conditions, including after strenuous exercise, inflammatory myopathies, infectious myopathies, dystrophinopathies, rhabdomyolysis, medications, metabolic myopathies, malignant hyperthermia, endocrine. Facts about metabolic diseases of muscle muscular dystrophy. Metabolic myopathies are heterogeneous conditions that have common abnormalities of muscle energy.
As you face the challenges ahead, please be assured that were making rapid progress toward better treatments and a cure. Patients with metabolic myopathies have underlying deficiencies of energy production in muscle due to a wide variety of defects. Metabolic myopathies may present in different stages of life and can be difficult to diagnose. May 01, 2020 metabolic myopathies may present in different stages of life and can be difficult to diagnose. Metabolic myopathies definition of metabolic myopathies by. The metabolic myopathies can present in the neonatal and infant period as part of more systemic involvement with hypotonia, hypoglycemia, and encephalopathy. Marked hypotonia, respiratory muscle weakness and feeding difficulty in most severe cases. Because the hyperosmolar state allows for the relative preservation of intravascular volume, some signs of dehydration can be less obvious than in dehydrated patients with more normal.
The investigation and management of metabolic myopathies. These disorders may include defects in glucose metabolism, lipid metabolism, or defects in oxidative phosphorylation. Congenital myopathy is a very broad term for any muscle disorder present at birth. Visser2 1departments of pharmacotherapy, cardiology and cardiothoracic surgery, academic medical centre, amsterdam, the netherlands, and 2department of cardiology, free university medical centre, amsterdam, the netherlands. There is no specific treatment for many of the metabolic muscle disorders. These data link nf1 deficiency to fundamental shifts in muscle metabolism, and. Metabolic myopathies are genetic diseases, usually inherited, that affect the bodys muscles. Treatments include changes in physical activity and diet, aerobic and anaerobic resistance exercise training, and the use of various vitamins and supplements. Role of leptin yet another problem in metabolic syndromeinvolves the phenomenon knownas leptin resistance. Metabolic myopathies renaissance school of medicine at stony. Metabolic myopathies are a heterogeneous group of disorders characterized by inherited defects of enzymatic pathways involved. A clinical approach to muscle diseases university of chicago. Mathevon l, michel f, decavel p, fernandez b, parratte b, calmels p.
Cneutral fat myopathies c neutrale fate myopathiese ae verye largee groupe ofe metabolice myopathiese ise todaya very large group of metabolic myopathies is today representedbysocalledlipide storagee myopathiese orrepresented by socalled lipid storage myopathies or trigly ceridee storagee myopathies. Table 1 classification of myopathies hereditary channelopathies congenital myopathies metabolic myopathies mitochondrial myopathies muscular dystrophies myotonias acquired druginduced myopathies endocrine myopathies in. Once a particular defect is identified, attempts are made to instruct the patient to avoid precipitating factors. The concept that individuals might have a metabolic profile that could be reflected in the makeup of their biological fluids was introduced by roger williams in the late 1940s,5 who used paper chromatography to suggest characteristic metabolic patterns in urine and saliva were associated with diseases such as schizophrenia. Muscles can also be affected by systemic illnesses, including connective tissue diseases and endocrinopathies. Metabolic myopathy an overview sciencedirect topics. Metabolic myopathies american college of rheumatology. The number of metabolic syndrome components also influences the degree of risk. A diagnostic algorithm for metabolic myopathies ncbi. This topic will briefly describe fatty acid oxidation disorders faods, which are inborn errors of metabolism resulting in failure of. The metabolic myopathies result from inborn errors of metabolism affecting intracellular energy production due to defects in glycogen, lipid, adenine nucleotides, and mitochondrial metabolism. Those who do not develop a form of a metabolic myopathy until they are in their young adult or adult life tend to have more treatable symptoms that can be helped with a change in diet and exercise. Impairments in glycolysisglycogenolysis glycogenstorage disease, fatty acid transport and oxidation fatty acid oxidation defects, and the mitochondrial respiratory chain mitochondrial myopathies represent the majority of known defects.
Some people with a metabolic myopathy muscle disease develop weakness. Metabolic myopathies treatments vary according to the patients particular myopathy. Leptin is a hormone that regulates longtermenergy balance in many mammals. Muscle structure and stiffness assessment after botulinum toxin type a injection. Metabolic myopathies caused by disorders of lipid and purine metabolism mitochondrial myopathies.
If we suspect an acquired myopathy, such as inflammatory myopathy, we may recommend a muscle biopsy to evaluate the structure of the muscle. In both glycogen and lipid storage myopathies, quantitative measurement of the deficient enzyme will confirm the diagnosis. The best way to prevent lyme disease is to lower the risk of tick bites. These abnormalities can be detected and monitored via serum biomarkers.
When you have at least three of them, it is called metabolic syndrome. One goal of transitioning the imd program to opdp is to align it with other drug programs in ontario. Camptocormia in parkinsonism is caused by axial dystonia, which is the hallmark of parkinsons disease. This should be suspected if the urine tests positive for blood but no red blood cells are identified. There is no specific pharmacologic treatment for primary axial myopathy. Metabolic myopathies are a diverse group of rare genetic disorders and their associated muscle symptoms may be subtle. The degree of exercise intolerance in the metabolic myopathies varies greatly between disorders and even from one individual to the next within a disorder. Serum activities of ckmm may be increased in a number of conditions, including after strenuous exercise, inflammatory myopathies, infectious myopathies, dystrophinopathies, rhabdomyolysis, medications, metabolic myopathies, malignant hyperthermia, endocrine myopathies, and channelopathies.
In one study, the presence of four or more metabolic syndrome risk factors was associated with a 3. Metabolic myopathies are rare, so diagnosis can be delayed. Metabolic myopathies have varying levels of symptoms, being most severe when developed during infancy. Avoid ticks favorite habitats, like tall grasses or brush. These include defects in lipid, glycogen, glucose, adenine nucleotide, and mitochondrial metabolism. The common goal of the neuromuscular center is to excel in diagnostics, treatment and research and innovation for persons affected by neuromuscular diseases. Respiratory insufficiency, associated cardiomyopathy, heart block, and aspiration may result from severe myopathy. Impairments in glycolysisglycogenolysis glycogenstorage disease, fatty acid transport and oxidation fatty acid oxidation defects, and. With a biopsy, a needle is used to remove a small sample of tissue. Facts about myopathies muscular dystrophy association. Metabolic myopathy glycogen storage disease, gaalysosomal. Primary metabolic myopathies are associated with genetically determined defects in glycogen and lipid metabolism and in mitochondrial oxidative phosphorylation. Structural congenital myopathies excluding nemaline myopathy.
This booklet will give you the basic facts about the inherited and endocrine myopathies, and mda will help you answer all your questions as they arise. We have developed several dietary treatment strategies for these conditions, and developed diagnostic tests. Impairments in glycolysisglycogenolysis glycogenstorage disease, fatty acid transport and oxidation fatty acid oxidation defects, and the mitochondrial respiratory chain mitochondrial. An important role of leptin is longterm inhibitionof. Not all people with a metabolic myopathy experience the same symptoms. Integrative data mining highlights candidate genes for monogenic myopathies article pdf available in plos one 910. Infectious myopathies can be caused by viruses, bacteria, or parasites.
A rheumatologist can diagnose metabolic myopathies with a muscle tissue biopsy or genetic testing. Diagnostic delays are common and clinicians need a high index of suspicion to recognise and differentiate metabolic myopathies from other conditions that present in a. Visser2 1departments of pharmacotherapy, cardiology and cardiothoracic surgery, academic medical centre, amsterdam, the netherlands, and 2department of cardiology, free university medical centre, amsterdam, the netherlands correspondence. Camptocormia, also referred to as bent spine syndrome bss is defined as an abnormal flexion of the trunk, appearing in standing position, increasing during walking and abating in supine position. Jul 06, 2011 myopathies a special and seperate entity with specific features in each disorder making us easy for diagnosis,confirmation by muscle biopsy.
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