Muscular Dystrophy Association

Duchenne muscular dystrophy is progressive disease of the muscle, caused by defective or absent glycoprotein, dystrophin, in the membrane of the muscle wall. Dystrophin reinforces the myotube membrane skeleton by increasing its stiffness, thus a lack of dystrophin causes substantial reduction in muscle stiffness. Symptoms include ambulation difficulties, hyperopia and gross motor milestone delays in infants and children, calf hypertrophy, an imbalance in lower limb strength, and diminished…

Introduction Duchenne muscular dystrophy, or DMD, is the most common and severe type of muscular dystrophy, caused by a genetic disorder that leads to progressive muscle weakness and degradation (Marieb & Hoehn, 2015). DMD is a recessive sex-linked disease and is often inherited through the mother. Because this condition is enacted by a mutation of the X chromosome, it is expressed almost exclusively in males, with one in every 3,600 males affected worldwide (Marieb & Hoehn, 2015). The DNA…

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…

Duchenne muscular dystrophy (DMD), the most common form of all muscular dystrophies, is an X-linked disorder affecting approximately one in 5000 newborn boys. "(page1; paragraph 1; lines 1-4)" Patients are usually restricted to a wheelchair around the age of twelve and facing death somewhere between the ages twenty-five to thirty. DMD is caused when the dystrophin gene is mutated. That mutation stops the communication for a functional protein. The inadequacy of dystrophin causes muscle fiber…

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…

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…

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 dystrophy is genetic disorder that is caused by a mutation in the genes, causing muscle mass to become weaker and degenerated. This is a consequence on the genes with mutation that have a missing protein responsible for muscle health. There are over forty types of muscular dystrophy and each varies in characteristics and severity. Duchenne muscular dystrophy is the most common type and only boys are affected by it. Characteristics can vary depending on the type of muscular dystrophy,…

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,…

It had been determined that specific types of Muscular Dystrophy only affect men. For instance the Duchenne is most commonly known for affecting young children, but Duchenne muscular dystrophy is also know to only affect makes. This type of condition and reductions the muscle in mass and causes it to diminish and become weaker and weaker. This disorder is know to have significant affects on young boy, and by the age of 12 they will require the use of a wheel hair. With time the limbs and spin…