As you may know, Muscular Dystrophy is a disorder that weakens a person's muscle. More than 50,000 people are diagnosed with that kind of disorder. They usually come from the…
Muscular Dystrophy: is a group of inherited disorders that involve muscle weakness and muscle loss gradually decline over a period of time.…
Because patients with muscular dystrophy are especially susceptible to muscle damage, Physical Therapists, who are skilled in the involvement of skeletal muscle and the effects that skeletal muscle has on joints, are Ideal clinicians to care for patients with muscular dystrophy. 2 Physical therapy is most successful when it is began as soon as possible, preferably right after receiving a diagnosis. This way the physical therapist can teach skills and begin interventions before severe joint tightness, muscle tightness, or contractures develop. 1,2 “Light to moderate exercise has been shown to be benefit patients with muscular dystrophy by slowing down the progression of muscle weakness”, however “Over exercising can damage muscles.” 1,2 Maximal…
Muscular Dystrophy is a disorder that is passed down through families, and can occur in both adulthood, and childhood. There are multiple types of Muscular Dystrophy such as Becker MD, Duchenne MD(deadly), Emery-Deifuss MD, Facioscapulohumeral MD, Limb-Girdle MD, Myotonia MD, Mytonic MD etc.. Symptoms related to muscular dystrophy inlcue muscle weakness(slowly gets worse over time), delayed development to muscle motor skills, loss of strength in a muslce/group of muscles, loss in muscle size, difficulty of using more than one muscle group, and possible mental retardation(only present in some cases of muscular dystrophy). In some cases, it is even known to cause scoliosis.…
Many affected people inherit the disorder from a parent but between 30 to 50 percent of new cases occur because of a spontaneous genetic mutation…
Based on the description and symptoms given, the likely diagnosis would be Duchenne’s muscular dystrophy, or DMD; although DMD and its symptoms tend to show up at an earlier age but not always. This type of muscular dystrophy is the most common and severe form of the dystrophinopathic diseases. Dystrophinopathic diseases are muscular dystrophies that are of a genetic nature caused by a deficiency in the protein dystrophin. This protein is vital to muscle function and contraction. In the case of DMD, there is a mutation in the gene, called the DMD gene, responsible for producing dystrophin causing a deficiency. This gene mutation is X-linked recessive and is inherited. This means that females in the family carry the gene mutation and can pass is on to their offspring male or female, but it is expressed in the males.…
Spinal muscular atrophy is a group of inherited diseases that cause muscle damage and weakness, which get worse over time and eventually lead to death.…
muscular dystrophy, in which the defect is in the muscles, CMT is a disorder in which the defect…
- duchenne- most common form in children- affects only males; muscles decrease in size and…
Duchenne muscular dystrophy also known as DMD is a rare genetic condition that could affects all race and cultures; mostly boys. Duchenne muscular dystrophy affects 1 in 500 boys in approximation. According to muscular dystrophy association 20,000 children are born with DMD worldwide and approximately, 35% are as a result of spontaneous genetic mutation (2014). The disease is an X-linked recessive inheritance that the mother passed it on. DMD has a progressive muscular degeneration and weakness and it is one of the nine types of muscular…
Muscular dystrophy (MD) is a term that applies to a group of hereditary muscle-destroying disorders. According to the Muscular Dystrophy Association, in 2006 some type of MD affected approximately one million Americans. Each type of the disease is caused by defects in the genes that play important roles in the growth and development of muscles. In MD the proteins produced by the faulty genes are abnormal, causing the muscles to slowly disintegrate. Unable to function properly, the muscle cells die and are replaced by fat and connective tissue. The symptoms of MD may not be noticed until as much as 50% of the muscle tissue has been affected. All of the different types of MD cause weakening and wasting of muscle tissues. They vary, however, in the usual age at the beginning of symptoms, rate of progression, and initial group of muscles affected. The most common childhood type, Duchenne Muscular Dystrophy, affects young boys, who show symptoms in early childhood and usually die from respiratory weakness or damage to the heart before becoming an adult. The gene is passed from the mother to her children. Females who inherit the defective gene generally do not have symptoms, they simply become carriers of the defective genes, and their children have a 50% chance of inheriting the disease. Other forms of MD become apparent later in life and are usually not fatal.…
Patel M.D., Parul. U.S. National Library of Medicine. 13 August 2009. 21 October 2011 .…
Glycogen Storage Disease type III is an autosomal recessive disorder that is caused by the deficiency of the glycogen debrancher enzyme. This deficiency causes there to be a mutation on exon three and it causes abnormally structured glycogen to be present in the body. This disease can be diagnosed by multiple tolerance tests and it also can be diagnosed by analyzing the muscle tissues. This disease causes problems in the liver and in the muscles. The tolerance tests are used to test for liver diseases and the analysis of the muscles is used in order to determine if a patient has myopathy. This disease affects a large range of ages. This ages can range from early childhood to adulthood usually between ages one and sixty-two. Children and adults usually experience different symptoms. The symptoms in children are most commonly growth and muscle retardation. The symptoms in adults usually vary in comparison to children. Adults usually have myopathy in there calf muscles.…
Definition • Muscular Dystrophy is a group of diseases that cause progressive weakness & a loss of muscle mass • In MD, abnormal genes (mutations) interfere with the production of proteins needed to form healthy muscle • There are many different kinds of Muscular Dystrophy • Symptoms of the most common variety begin in childhood, primarily in boys • Other types don’t surface until adulthood Definition Cont… • Some people who have MD will eventually lose the ability to walk •…
Although patients with the extremely rare and sometimes life-threatening disease, central nuclear myopathy, will never be able to walk, or do some of the more athletic things people who do not have it do, they are still capable of leading normal lives. Most patients capable of communicating through computers or by sign language. This enables them to work; hence lead their own lives, with simply the assistance of others. If one was to look at a child just born with central nuclear myopathy, one would see a baby not even able to blink its own eyes, yet through modern technology and research conducted at some of the most prestigious laboratories and schools, scientists have been able to develop medications which help these helpless babies build muscle mass. While affecting the patient by destroying potential muscle mass, central nuclear myopathy also affects each patient’s life in different ways.…