Duchenne muscular dystrophy

Myotonic dystrophy type 1 (DM1) or Steinert disease is a rare genetic multisystem disorder. Typical symptoms are delayed relaxation of muscles (myotonia) and slowly increased muscle weakness (dystrophy). It also affects the eye, heart, endocrine system, and central nervous system [1]. The prevelance is estimated at 1:10,000 [2]. DM1 is caused by an unstable (CTG) microsatellite repeat expansion within the DMPK (dystrophia myotonica protein kinase) 3- untranslated region (3’-UTR) in chromosome…

Muscular dystrophies (MD) are diseases that causes muscle mass loss and weakness (this is normally in children but can happen in adults). This is caused by abnormalities in genes that interfere with proper production of protein to form healthy muscles for voluntary movement. When the brain sends signals to a muscle to contract, it goes through the spinal cord and peripheral nerves to the neuromuscular junction, releasing the chemical acetylcholine that triggers muscle contraction. From here,…

dystrophin, causes Muscular dystrophy. Dystrophin is located in the skeletal and and cardiac muscles. Alterations or mutations in the gene make it so little to know dystrophin are produced, causing Muscular Dystrophy. Without enough dystrophin muscles contract and get damaged. (2015) The mutated gene can be inherited in an X-linked pattern. This means it is passed along the X chromosome. If a mother has a faulty DMD gene, her son has a fifty percent chance of inheriting muscular dystrophy. Boys…

Occurring mostly in males, Duchenne Muscular Dystrophy is an X-linked disorder that includes progressive muscle weakening caused by an insufficient gene for the production of a protein in the muscles called dystrophin. (Lucas-Heron, 1995) It affects about one in 3600-6000 live male births, making it the most common form of muscular dystrophy. Symptoms are most often noticeable by the time patients reach the age of three to five. The affected males will lose their ability to walk by eight to…

197, 200, 202, 206-208, 214, 216, 220, 222 Duchenne and Becker muscular dystrophy. [Internet]. Genetics Home Reference. [published 2015 October 19; cited 2015 October 22]. Available from: http://ghr.nlm.nih.gov/condition/duchenne-and-becker-muscular-dystrophy Duchenne muscular dystrophy. [Internet]. MedlinePlus. [updated 2014 February 3; cited 2015 October 23]. Available from: https://www.nlm.nih.gov/medlineplus/ency/article/000705.htm Farabee MJ. Muscular and skeletal systems. [Internet].…

My focus for this report is to explain the role of skeletal muscles in the body and a specific disease that can come from it, if not functioning properly. It is well known that the main function of the muscular system is to generate movement. The muscles work together to move the body and organs, while also maintaining posture and body temperature. There are three types of muscle tissue; skeletal, cardiac, and smooth. Skeletal muscle is the most common of the three, since it’s connected to bone…

bodies, one must first be aware of the different types of muscles, which include skeletal, cardiac, and smooth muscles. Skeletal muscle is a muscle that is connected to the skeleton, while cardiac muscle, also called myocardial, is the muscular tissue of…

The first type of anxiety I felt was trait anxiety. I had never climbed before in my life prior to this class. In addition to having no prior experience with climbing I am scared of heights. I felt anxiety as soon as it was announced that we would be climbing the rock wall. I was very uneasy in the days leading up to our first climb. The second form of anxiety I felt was state anxiety. As soon as I started to climb I felt the feeling of dread rise up within me. When I first started…

ETHICS APPLICATION FORM - Ultrasound imaging of trained and untrained muscles 1. DESCRIBE THE BASIC PURPOSES OF THE PROPOSED RESEARCH. If a person gets paralyzed and cannot move certain muscles, those muscles tend to change structure and get weaker. It would be useful to have a method of seeing what condition the muscle is in order to rehabilitate the person effectively as well as using that method to help clinical diagnosis of ailments known to cause muscle degradation. The basic purpose of…

By definition, anatomical means “of or relating to bodily structure of a living organism”. This is evidenced in the physical characteristics of the animal, both their skeletal system and their muscular system. Cheetahs appear to be “built for speed” as they have a light and aerodynamic body frame with long, lean and limber back legs. The cheetah has a very flexible spine which allows a long stride when at a full on run. They also have small paws…