Muscular dystrophy

Myotonic Dystrophy is an autosomal dominantly inherited disorder at which an individual has the inability to relax his or her muscles; thus progressing to muscle degeneration and decrease muscle tone [1]. Currently there are two types of muscular dystrophy that are known in the both the medical and scientific community. There’s type one myotonic dystrophy also known as congenital myotonic dystrophy which has an onset at birth. Then there is type two, myotonic muscular dystrophy which has an…

Dystrophin is produced by the DMD gene and mutations cause Duchenne and Becker muscular dystrophies, which lead to reduced amounts of dystrophin in skeletal muscle cells. This reduced amount of dystrophin causes muscles to weaken and damage over time, causing the build up of fat rather than muscle. This pseudohypertrophy causes the appearance of enlarged muscle, namely in the calf muscles, in those with Duchene muscular dystrophy. A – molecules of fibrillin-1 bind to each other and to other…

first step for a diagnosis is a thorough physical examination by a doctor. Early and overall physical signs of MD will vary due to which specific dystrophy is present. The simplest early physical finding is generalized weakness that starts proximal and spreads distally. An exception is made for a few rare forms of dystrophy such as fasioscapulohumeral dystrophy (FSHD), where symptoms always start at the face accompanied by more distal weakness of extremities 4. Often the examining…

as DMD. Although later discovered, Edward Meryon described this genetic disease first, but by that time it had the title of “Duchenne” (Abramovitz p. 19-21). Out of nine different types (“Duchenne”), Duchenne MD, the most common of childhood muscular dystrophies (Abramovitz p. 19-21), is known as the second largest gene. Starting in the lower half of the body, over years the effects of DMD progressively move to the upper body (“Learning”). Living with the harsh effects of possibly…

Duchenne Muscle Dystrophy Introduction: “Muscular Dystrophy is a group of muscle diseases that weaken the musculoskeletal system. Muscle Dystrophies are characterized by muscle weakness, defects in muscle proteins and the death of muscle cells and tissue. Duchenne Muscular Dystrophy is one of many types found and it passed down through the X chromosome. DMD is one of the most common muscle diseases found in early childhood. 1 in 3500 boys are born with DMD however very rarely affects girls…

In class, we’ve talked about the myosin when seeing the microfilament. It is the motor protein of microfilament which moves along it tracks toward the positive end. It is also the major component of skeletal muscle thick filaments and thus, is involved in muscle contraction. The disease that is going to discuss is related to muscle contraction, called Myosin Storage Myopathy (also known as hyaline body myopathy). The characteristic or symptom of this disease is the weakness of the muscles that…

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…

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]. C1992-2001.…

It is found elevated in muscle damage of the heart, brain, or skeletal muscle following crush injury, in seizures, muscular dystrophy and inflammation, or also a disorder of skeletal muscle. Electrophoresis technique is used to separate and measure these isoenzymes. CK-BB isoenzyme drifts toward to anode at pH 8.6, on the other hand, CK-MM moves cathodic. Another CK is also…

anemia because a disease like Immune Hemolytic Anemia where the body makes its own antibodies that attacks the red blood cells, the body isn’t fully able to fully transport nutrients to body tissues which later leads into muscle and organ failure and dystrophy, due to loss of nutrients. Unless treated by Steroids specifically prednisone which helps the rebuilding of proteins in the body and that relates to the building of hemoglobin that is the main cause of anemia if not built fully. As…