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Metabolic Diseases of Muscle

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Metabolic Diseases of Muscle Facts About Metabolic Diseases of Muscle Updated December 2009 Dear Friends: f you’ve just learned that you or a loved my beautiful wife and three children. I Ione has a metabolic muscle disorder, work full time as a human resource pro- you’re probably both relieved and con- fessional, attend college, and spend my cerned. That’s how I felt when I learned at spare time remodeling houses, camping age 27 that I had muscle phosphorylase and doing the activities I enjoy. deficiency, or McArdle disease. Those whose metabolic disease is more It was a great relief to have a name and disabling will find much support today. an explanation for a problem I’d had since Federal laws guarantee your right to a early childhood. Knowing that my disease public education, equal employment is rare and hard to diagnose helped me opportunity and access to public places. understand why I’d spent so many years Technology makes it possible for many believing I needed to “try harder,” but only people to perform work that’s suited to feeling weaker when I did. It was a relief their levels of ability and health. to know that I wasn’t “lazy” and wasn’t the Part of maintaining a healthy lifestyle is only one with this problem. learning about your metabolic muscle But getting a diagnosis also raised some disease. I take care of myself by avoid- questions. ing injury, eating healthy and visiting the doctor regularly. Meeting other people What treatment was there? Would my with McArdle disease, participating in symptoms get worse? Did the disease medical research and talking to doctors affect more than my voluntary muscles? have helped me take control of my life. How could I avoid episodes of weakness? Learning more about your disease is just Would my children have the same dis- the beginning of your journey. ease? “MDA is Here to Help You,” on page 13, All those questions are addressed in this Keith Stout describes the many services MDA offers. booklet from the Muscular Dystrophy The Association’s scientists are making Association. MDA offers information and great progress in understanding metabolic support that will help you move from self- diseases and finding treatments for them. doubt to self-management of your meta- We all pray for the day when no one has bolic disorder. to go through the physical and emotional pain that these diseases can cause. You can, to a great extent, manage your disorder and minimize some of the seri- This booklet will give you the basic facts ous effects. I’ve learned how to say no to about your metabolic muscle disease, activities that could do harm. I’ve learned and MDA will help you answer all your to watch for signs of muscle breakdown questions as they arise. As you face the so I can avoid kidney failure. I know what challenges ahead, please remember that treatment I need in case of an emergency. you’re not alone. Metabolic muscle diseases affect each person differently, but for most of us, it doesn’t limit our lives as much as you Keith Stout may fear. Edmond, Oklahoma I’m in my mid-40s and live a very active lifestyle. My life is full and rewarding with 2 Metabolic Diseases of Muscle • ©2009 MDA What are Metabolic Diseases of Muscle? etabolic diseases of muscle were There are 10 metabolic diseases of Mfirst recognized in the second muscle (myopathies) in MDA’s pro- half of the 20th century. Each of these gram. Each one gets its name from disorders is caused by a different the substance that’s lacking: genetic defect that impairs the body’s metabolism, the collection of chemical • acid maltase deficiency changes that occur within cells during (Pompe disease) normal functioning. • carnitine deficiency Specifically, the metabolic diseases of heart • carnitine palmityl transferase muscle interfere with chemical reac- deficiency voluntary tions involved in drawing energy from muscles food. Normally, fuel molecules derived • debrancher enzyme deficiency from food must be broken down fur- (Cori or Forbes disease) ther inside each cell before they can be used by the cells’ mitochondria to • lactate dehydrogenase deficiency make the energy molecule ATP. • myoadenylate deaminase liver The mitochondria inside each cell deficiency could be called the cell’s “engines.” • phosphofructokinase deficiency The metabolic muscle diseases are (Tarui disease) caused by problems in the way certain fuel molecules are processed before • phosphoglycerate kinase deficiency they enter the mitochondria, or by the inability to get fuel molecules into • phosphoglycerate mutase mitochondria. deficiency kidneys Muscles require a lot of energy in the • phosphorylase deficiency form of ATP to work properly. When (McArdle disease) energy levels become too low, muscle weakness and exercise intolerance What causes with muscle pain or cramps may metabolic diseases? occur. Nine of the diseases in this brochure are In a few metabolic muscle disorders, caused by defects in the enzymes that symptoms aren’t caused so much by control chemical reactions used to break a lack of energy, but rather by unused down food. Enzyme defects are caused fuel molecules that build up inside by flaws in the genes that govern pro- muscle cells. This buildup may damage duction of the enzymes. the cells, leading to chronic weakness. The 10th disease, carnitine deficiency, Metabolic diseases of muscle can affect all the body’s voluntary muscles, such as those in the Metabolic muscle diseases that have is caused by lack of a small, natu- arms, legs and trunk. Some also can involve their onset in infancy tend to be the rally occurring molecule that’s not an increased risk of heart or liver diseases, and the enzyme but is involved in metabolism. effects can damage the kidneys. most severe, and some forms are fatal. Those that begin in childhood or Enzymes are special types of proteins adulthood tend to be less severe, and that act like little machines on a micro- changes in diet and lifestyle can help scopic assembly line, each performing most people with the milder forms a different function to break down food adjust. molecules into fuel. When one of the 3 Metabolic Diseases of Muscle • ©2009 MDA enzymes in the line is defective, the process weakness in a person who has the disease goes more slowly or shuts down entirely. because of a genetic flaw. Our bodies can use carbohydrates (starches What happens to someone and sugars), fats and protein for fuel. Defects in the cells’ carbohydrate- and fat- with a metabolic disease? processing pathways usually lead to weak- Exercise intolerance ness in the voluntary muscles, but also may The main symptom of most of the meta- affect the heart, kidneys or liver. Although bolic myopathies is difficulty performing defects in protein-processing pathways can some types of exercise, a situation known occur as well, these usually lead to different as exercise intolerance, in which the per- kinds of disorders that affect other organs. son becomes tired very easily. A gene is a “recipe” or set of instructions The degree of exercise intolerance in the for making a protein, such as an enzyme. A metabolic myopathies varies greatly between defect in the gene may cause the protein to disorders and even from one individual to be made incorrectly or not at all, leading to the next within a disorder. For instance, a deficiency in the amount of that enzyme. some people may run into trouble only when Genes are passed from parents to children. jogging, while others may have trouble after Therefore, gene defects can be inherited. mild exertion such as walking across a park- (See “Does it Run in the Family?” on page The main symptom of ing lot or even blow-drying their hair. Each 11.) most of the metabolic person must learn his activity limitations. myopathies is difficulty The metabolic muscle diseases aren’t In general, people with defects in their performing some kind of contagious, and they aren’t caused by cer- carbohydrate-processing pathways tend exercise. tain kinds of exercise or lack of exercise. to become very tired at the beginning of However, exercise or fasting (not eating exercise but may experience a renewed regularly) may bring on episodes of muscle feeling of energy after 10 or 15 minutes. FUEL In normal metabolism, food provides fuel that’s processed inside the cells, pro- ducing energy (ATP) for muscle contraction and other cellular functions. In meta- bolic myopathies, missing enzymes prevent mitochondria from properly process- ing fuel, and no energy is produced for muscle function. 4 Metabolic Diseases of Muscle • ©2009 MDA On the other hand, those with carnitine progressive muscle weakness, rather than palmityl transferase deficiency (CPT) may exercise intolerance, is the primary symp- experience fatigue only after prolonged tom. Over time, people with acid maltase exercise. deficiency or debrancher enzyme defi- ciency may eventually need a wheelchair A person with exercise intolerance also to get around and, as respiratory muscles may experience painful muscle cramps weaken, may require ventilatory assistance and/or injury-induced pain during or after to provide extra oxygen at night. All three exercising. of these disorders may be associated with The exercise-induced cramps (actually sharp heart problems. contractions that may seem to temporar- It’s important to realize that, although the ily “lock” the muscles) are especially noted metabolic muscle diseases characterized in many of the disorders of carbohydrate by exercise intolerance typically don’t metabolism and, rarely, in myoadenylate involve muscle weakness, some chronic deaminase deficiency. The injury-induced or permanent weakness can develop in pain is caused by acute muscle breakdown, response to repeated episodes of rhab- a process called rhabdomyolysis, which domyolysis and to the normal loss of may occur in any metabolic muscle disorder strength that occurs with aging.
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