Muscular dystrophy meaning

What Is Muscular Dystrophy? How muscular dystrophy affects you or your child depends on the kind. Most people’s condition will get worse over time, and some people may lose the ability to walk, talk, or care for themselves. But that doesn’t happen to everyone. Other people can live for many years with mild symptoms. There are more than 30 kinds of muscular dystrophy, and each is different based on: • The genes that cause it • The muscles it affects • The age when symptoms first appear • How quickly the disease gets worse People usually get one of nine major forms of the disease: • Duchenne muscular dystrophy (DMD) is the most common form. It mainly affects boys, and starts between ages 3 and 5. • Becker muscular dystrophy is like Duchenne, except milder. It also affects boys but the symptoms start later -- between ages 11 and 25. • Myotonic muscular dystrophy is the most common form in adults. People who have it can't relax their muscles after they contract. It can affect both men and women, and it usually starts when people are in their 20s. • Congenital muscular dystrophy starts at birth or shortly afterwards. • Limb-Girdle muscular dystrophy often starts in a person's teens or 20s. • Facioscapulohumeral muscular dystrophyaffects the muscles of the face, shoulders, and upper arms. It can affect anyone from teenagers to adults in their 40s. • Distal muscular dystrophy affects the muscles of the arms, legs, hands, and feet. It usually comes on later in life, between ages 4...

Diagnosis Your doctor is likely to start with a medical history and physical examination. After that, your doctor might recommend: • Enzyme tests. Damaged muscles release enzymes, such as creatine kinase (CK), into your blood. In a person who hasn't had a traumatic injury, high blood levels of CK suggest a muscle disease. • Genetic testing. Blood samples can be examined for mutations in some of the genes that cause types of muscular dystrophy. • Muscle biopsy. A small piece of muscle can be removed through an incision or with a hollow needle. Analysis of the tissue sample can distinguish muscular dystrophies from other muscle diseases. • Heart-monitoring tests (electrocardiography and echocardiogram). These tests are used to check heart function, especially in people diagnosed with myotonic muscular dystrophy. • Lung-monitoring tests. These tests are used to check lung function. • Electromyography. An electrode needle is inserted into the muscle to be tested. Electrical activity is measured as you relax and as you gently tighten the muscle. Changes in the pattern of electrical activity can confirm a muscle disease. Treatment Although there's no cure for any form of muscular dystrophy, treatment for some forms of the disease can help extend the time a person with the disease can remain mobile and help with heart and lung muscle strength. Trials of new therapies are ongoing. People with muscular dystrophy should be monitored throughout their lives. Their care team should inc...

Myopathy is a general term that refers to diseases that affect the muscles that connect to your bones (skeletal muscles). Myopathies may be passed on in families (inherited) or they may develop later in life (acquired). People living with myopathy may have difficulty performing activities of daily living like bathing, combing their hair or standing up from a chair. Overview What is myopathy? Myopathy refers to diseases that affect skeletal muscles (muscles that connect to your bones). These diseases attack muscle fibers, making your muscles weak. Are there different types of myopathies? Myopathy can be categorized by its cause. Basically, myopathies are separated into two categories: inherited and acquired. Inherited myopathies Inherited myopathies are those that you’re born with, often from inheriting an abnormal gene mutation from a parent that causes the disease. Conditions that are inherited myopathies include: Congenital myopathies Symptoms of congenital myopathies usually start at birth or in early childhood, but may not appear until the teen years or even later in adulthood. Congenital myopathies are somewhat unique compared with other inherited myopathies, as weakness typically affects all muscles (not just proximal [closest to the center of your body] ones) and is often not progressive. Mitochondrial myopathies Mitochondrial myopathy is caused by a defect in the mitochondria, which are the energy-producing part of cells. These conditions have muscle weakness, but ...

• Overview   • • Theory   • Epidemiology • Aetiology • Case history • Diagnosis   • Approach • History and exam • Investigations • Differentials • Criteria • Management   • Approach • Treatment algorithm • Emerging • Prevention • Patient discussions • Follow up   • Monitoring • Complications • Prognosis • Resources   • Guidelines • Images and videos • Duchenne muscular dystrophy (DMD) is the most common and most rapidly progressive muscular dystrophy, with most patients losing the ability to walk by 12 years of age and requiring ventilatory support by 25 years of age. Before the use of cardioprotective drugs and respiratory muscle aids, respiratory complications were responsible for 80% of deaths, and cardiac complications were responsible for approximately 20%. Survival past 30 years of age is no longer rare, with 10% to 40% of patients with DMD surviving to age 40 in centres that use non-invasive means of respiratory support. The development of acute respiratory failure, previously considered inevitable, can be preventable for most patients. Severe scoliosis and the need for corrective surgery can be avoided, and the need for mechanical ventilation delayed, by early and aggressive use of corticosteroids. With a few exceptions, all generalised muscle disease can be managed using the principles for managing DMD. Definition Muscular dystrophies are progressive, generalised diseases of muscle, most often caused by defective or specifically absent glycoproteins (e...