Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy is a rare form of muscular dystrophy characterized by early onset contractures of the elbows, achilles tendons and post-cervical muscles with progressive muscle wasting and weakness It is also associated with heart complications like cardiomyopathy and arrhythmia which in both cases can lead to death. Cardiomyopathy is a heart disease which affects the muscles of the heart. In cardiomyopathy is muscles get rigid, enlarged or thick
According to the MediLexicon Medical Dictionary, muscular dystrophy is defined as a general term for a number of hereditary, progressive degenerative disorders affecting skeletal muscles, and often other organ systems (Staff). Basically what that means is that muscular dystrophy is a genetic disorder that is passed down that affects the skeletal muscles and other organs by slowly breaking them down. Since it is genetic, it is not contagious and you cannot catch it from someone who has it. MD weakens
explanation of what Muscular Dystrophy is and a general information paragraph over each type of the major muscular dystrophies today. What is Muscular Dystrophy? Muscular dystrophy (MD) is a genetic disorder that weakens skeletal muscles, the muscles that enable the human body to move. People with muscular dystrophy have missing or incorrect information in their genes, which prevents them from making the proteins they need for healthy muscles. Due to fact that muscular dystrophy is genetic, it is not
Muscular Dystrophy (MD) is a disease that weakens the musculoskeletal system and affects the ability to move. MD also affects groups of muscles. In the 1860’s it was described that boys were progressively growing weaker, losing the ability to move and died at an early age. A decade after the first description a French, neurologist named Guillaume Duchenne gave account for thirteen boys with the most common and severe forms of Muscular Dystrophy. MD is being caused by a mutation of a gene within the
muscular dystrophy has many forms and therefore symptoms can vary between the variations. Overall symptoms include the weakening of skeletal muscles and the defect and death muscle tissues. Duchenne muscular dystrophy is the most common and affects young boys such as Eddie. Eddie is an 11 year old boy and has been diagnosed with Duchenne muscular dystrophy. The symptoms appeared at the age of 5 and had led to the weakening of his leg and arm muscles and the eventual need of a wheelchair. Some of
• Duchenne Mascular Dystrophy (DMD): Physiological Basis of disease: DMD is the commonest and most serious form of the dystrophies. The gene responsible for dystrophin which, when absent, causes DMD. Amount of dystrophin correlates with the severity of the disease (i.e., the less dystrophin present, the more severe the phenotype). Since the gene is on the X chromosome, it primarily affects males, and females who are carriers have milder symptoms ( www.nlm.nih.gov/medlineplus/ency/article/000705
Dan Evans Lindenwood University Genetics November 25, 2012 Introduction Myotonic dystrophy, type 1, is a genetic disorder which is linked to chromosome number 19 in humans. The dystrophia myotonica protein kinase gene is located on the q arm of the chromosome at the locus of 13.32. It is an autosomal dominant disorder, which means that the individuals that are affected by this disorder and contain at least one dominant allele for the dystrophia myotonica protein kinase gene. The disorder
that is used today. (Scoliosis, 2014). Idiopathic scoliosis is unknown causes of scoliosis which means in about eighty percent of cases of scoliosis is unknown. Some causes of scoliosis would be neuromuscular condition such as cerebral palsy or muscular dystrophy. Then there is congenital scoliosis which was present at the time of birth. Scoliosis is also known to be a genetic disorder. If you have leg longer than the other you are at risk of developing scoliosis. Other causes are: bad posture, using
A muscular dystrophy is a group of diseases that cause progressive weakness and degeneration of skeletal muscles used during voluntary movement. This disease will occur when one just one of the thousands of genes that aid in programming proteins critical to muscle integrity is mutated. There are some types of muscular dystrophies that affect the heart, gastrointestinal system, endocrine system, spine, eyes, brain, and other organs. This disease may cause a serious respiratory and cardiac disease
Duchenne Muscular Dystrophy, commonly referred to as DMD, is a life threatening disease. There are many different forms of muscular dystrophy, Duchenne being one more serious. DMD begins to show at a young age. This particular form of muscular dystrophy is mostly found in males. Duchenne is carried by the mother on the X chromosome but often, the event of having this disease is just a “fluke.” Duchenne Muscular Dystrophy is a deadly and unfortunate disease but new research that is being done may
Duchene or Becker muscular dystrophy. (“Data & Statistics,” 2012 April 6) Muscular dystrophy is a group of genetic diseases defined by muscle fibers that are unusually susceptible to damage. There are several different types of muscular dystrophy some of which shorten the affected person’s lifespan. (“Muscular dystrophy: Types and Causes of each form,” n.d.) There is a long history of the disorder but until recently there wasn’t much knowledge of the cause. (“Muscular Dystrophy: Hope through Research
Clinical Characteristics and Genetics of Dystonia The dystonias comprise a heterogeneous group of neurologic movement disorders, which collectively represent the third most prevalent neurological movement disease in the United States (Bragg, 2011). Clinical manifestations of disease include sustained or intermittent, involuntary muscle contractions that result in abnormal twisting, postures, and/or movements (Albanese, 2013). Because of the broad spectrum of clinical characteristics and disease
Duchenne Muscular Dystrophy last week. I share my condolences for your family, as this must be a tough time for the both of you. In this letter there will be information regarding what Duchenne Muscular Dystrophy is, how it is caused, how it is treated, and the daily life for those affected with Duchenne Muscular Dystrophy and their family members. Muscular Dystrophies are genetic disorders that are distinguished by degenerative muscles and weakness in the muscles. Duchenne muscular dystrophy is a dominant
rooted in intensively manual procedures. With the introduction of computing power in the mid-1980's, disproportionate amount of resources were being applied to hundreds of individual gene discovery efforts, such as Huntington's Disease and muscular dystrophy. It was with this realization that a large-scale effort at mapping the human genome was undertaken and in 1990, the Human Genome Project was deemed possible and launched officially by the National Institute of Health (Pollack 1,2). Presently
predisposition to a disease. No longer must many people with high risk families worry about whether or not they may contract the same disease as their ancestors. Diseases and disorders such as Huntington chorea, Alzheimer's, Multiple Sclerosis, Muscular Dystrophy, Hemophilia, and some kinds of cancer such as breast, colon, thyroid, ovarian, and skin can now be identified on a particular gene and can likely predict the probability of disease onset. But with this technology comes many physiological and
“Dystrophy,” originally coming from the Greek “dys,” which means “difficult” or “faulty, and “trophe,” meaning “nourishment” holds the interpretation “poor nutrition.” Today we know poor nutrition is not the cause of Muscular Dystrophy (“Myotonic Dystrophy”). Muscular Dystrophy is a genetic disorder that affects between 500-600 newborns each year in the US (Statistics on Muscular Dystrophy). In general, this disorder weakens your skeletal muscles, and eventually they degenerate. Muscular Dystrophy
Duchenne muscular dystrophy What is Duchenne muscular dystrophy? Wendy Lee Ms. Wainman Biology A 21 May 2014 Contents I. Introduction A. Importance of the Case II. Body A. Duchenne muscular dystrophy 1. Characteristic 2. Actual Mutation 3. Location 4. Clinical Signs 5. Diagnosis 6. Prognosis 7. Treatment 8. Current Research III. Conclusion [Bibliography] I. Introduction A. Importance of the Case Duchenne muscular dystrophy (DMD) is a muscular dystrophy
Introduction to Duchenne Muscular Dystrophy Duchenne Muscular Dystrophy is caused by the mutation of the necessary muscle protein dystrophin that occurs on the X chromosome, and due to the way the disease is inherited it usually affects males. Males have only one copy of the X chromosome from their mother and one copy of the Y chromosome from their father. If their X chromosome has a DMD gene mutation, they will have Duchenne muscular dystrophy. According to the US National Library of Medicine (www
Background Before the project began a background literature review was done to understand the basis of the project, including any existing studies that overlap my research and studies that directly relate to my invertigation. Muscular dystrophy (MD) is a genetic disorder that weakens the muscles that help the body move. People with MD have incorrect or missing information in their genes, which prevents them from making the proteins vital for healthy muscles. MD is genetic, so people are born
Hip Dysplasia is a very common joint disorder that affects mainly large breed dogs. The joint that is effected in the disorder is the hip joint which is made up of the ball and the socket. When hip dysplasia occurs, the hip joints do not develop normally eventually deteriorating and cause a loss of function in the hip joints. As a result, the joint will become loose and can result in the joint disease called osteoarthritis. Symptoms an animal with hip dysplasia will often show include a decrease