Preview

Congenital Myasthenic Syndrome

Satisfactory Essays
Open Document
Open Document
306 Words
Grammar
Grammar
Plagiarism
Plagiarism
Writing
Writing
Score
Score
Congenital Myasthenic Syndrome
The common cause of congenital myasthenic syndromes is genetics, affecting the junction where the nerve triggers muscle activity. The inherited autosomal recessive gene exists in both parents, who pass the mutated gene to the offspring. The syndrome appears shortly after birth or early childhood. Severity ranges from minor to increasing concentrations of muscle weakness.
There are over twenty different genes known to cause congenital myasthenic syndromes, as different as each individual. Sometimes the conditions occurs randomly without any family history or illness connected to the disorder.
Families with a history of this condition have a higher risk of passing the inherited trait to their child. Although parents may not show signs of the

You May Also Find These Documents Helpful

  • Powerful Essays

    Pt1420 Final Exam

    • 3892 Words
    • 16 Pages

    - It is very rare in the general population. The genetic mutations that cause this disease are more…

    • 3892 Words
    • 16 Pages
    Powerful Essays
  • Satisfactory Essays

    Mostly sporadic; INHERITED cases w/ Autonomic - dominant, Autonomic - recessive, and X - linked transmission have been reported.…

    • 392 Words
    • 2 Pages
    Satisfactory Essays
  • Good Essays

    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.…

    • 534 Words
    • 3 Pages
    Good Essays
  • Good Essays

    Duchenne MD is the most common muscle dystrophy. Due to the way the disease is acquired, it generally influences young men. It is conceivable…

    • 884 Words
    • 4 Pages
    Good Essays
  • Better Essays

    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…

    • 1130 Words
    • 5 Pages
    Better Essays
  • Good Essays

    Duchenne muscular dystrophy is a genetic disorder that causes 1 out of 3500 males' voluntary muscles that control their body's movement to progressively weaken and waste due to a lack of dystrophin. Dystrophyn is an important muscle protein which is produced in a gene in the X chromosome. Hence, it is a sex linked disorder that affects only boys. The boy, if he inherits the disorder, looses muscle throughout his life. Symptoms include; tightening of muscles, difficulty in walking/running and calves may be large and firm. If inherited, the boy will not survive as the condition will make him become disabled due to his voluntary muscles progressively weakening and wasting.…

    • 662 Words
    • 3 Pages
    Good Essays
  • Good Essays

    Cystic Fibrosis is an inherited condition. However, the gene for Cystic Fibrosis is recessive and one strand must be inherited from each parent. Therefore, not all children of people with this condition develop it. But of course they are at increased risks of developing the condition. Both parents must either have Cystic Fibrosis, or be a carrier. Since it is a recessive gene, if a child has parents with Cystic Fibrosis and does not develop the condition, he or she will still have the recessive gene and become a carrier. Therefore, their children will now be at risk (Moe, 1992, p. 70).…

    • 802 Words
    • 3 Pages
    Good Essays
  • Better Essays

    Myasthenia Gravis

    • 1358 Words
    • 6 Pages

    Myasthenia gravis is thought to be caused by the immune system which produces antibodies that attack one type of receptor in the transmission of nerve impulses, especially on the muscle side of the neuromuscular junction. (Beers, 2003) This impairment is what causes the body to attack its own acetylcholine receptors, which in turn causes an autoimmune reaction. (Beers, 2003) The antibodies destroy the receptor sites more rapidly than the body can replace them. Muscle weakness occurs when acetylcholine cannot activate enough receptor sites at the neuromuscular junction. (Howard Jr. M.D., 2006) Why the body attacks it own acetylcholine receptors is unknown. One theory is that the thymus gland may be involved. The thymus gland contains muscle cells with acetylcholine receptors. In the thymus gland, certain cells of the immune system learn to distinguish between the body and foreign substances. The theory is that the thymus tells the immune system to attack acetylcholine receptors. (Beers, 2003)…

    • 1358 Words
    • 6 Pages
    Better Essays
  • Satisfactory Essays

    Tay-Sachs Disease

    • 571 Words
    • 3 Pages

    TSD is the result of an autosomal recessive gene, meaning, meaning that two copies of an abnormal gene must be present for the disease to develop. In TSD, the two copies must come from the mother and the father.…

    • 571 Words
    • 3 Pages
    Satisfactory Essays
  • Better Essays

    will occur if the mutation is on the maternally inheritetd chromosome 15. [See picture to the left] This accounts…

    • 924 Words
    • 4 Pages
    Better Essays
  • Better Essays

    Duchenne Muscular Dystrophy is “an X-linked disease of muscle caused by an absence of the protein dystrophin” (Dr. Sussman). The disease affects young boys. If a boy…

    • 1398 Words
    • 6 Pages
    Better Essays
  • Good Essays

    Research in the late 20th century demonstrated that Tay–Sachs disease is caused by a genetic mutation in the HEXA gene on chromosome 15. Chromosome 15 gets defected if your parents are carriers of it. Autosomal recessive is a trait, disorder, or disease they can be passed down through families. This disorder means two copies of abnormal gene must be present in order for the disease or trait development. The toxic levels to a child's brain affect the nerve cells. Also it is a rare fatal hereditary disease, occurring chiefly in infants and children, especially of eastern European Jewish origin, characterized by a red spot on the retina, gradual blindness, and…

    • 713 Words
    • 3 Pages
    Good Essays
  • Good Essays

    Muscular dystrophy (MD) is a group of nine neuromuscular diseases. This means it is related both to the nervous system and to the muscles. About 250,000 people in the United States have muscular dystrophy. Muscular dystrophy (MD) is a group of nine neuromuscular diseases. This means it is related both to the nervous system and to the muscles. About 250,000 people in the United States have muscular dystrophy. There are many different types of Muscular Dystrophy but how do they affect your body? Myotonic (also called MMD or Steinert's disease). The most common form of muscular dystrophy in adults, myotonic muscular dystrophy affects both men and women, and it usually appears any time from early childhood to adulthood. In rare cases, it appears in newborns (congenital MMD). The name refers to a symptom, myotonia -- prolonged spasm or stiffening of muscles after use. This symptom is usually worse in cold temperatures. The disease causes muscle weakness and also affects the central nervous system, heart, gastrointestinal tract, eyes, and hormone-producing glands. In most cases, daily living isn't restricted for many…

    • 1466 Words
    • 6 Pages
    Good Essays
  • Good Essays

    Alagille Syndrome

    • 847 Words
    • 4 Pages

    The Alagille syndrome is genetic. When a child has a parent with this genetic disorder there is a fifty percent chance that the child will receive this defect. The percentage of a child having Alagille syndrome with both parents having the disorder is unknown because there have been no cases reported of…

    • 847 Words
    • 4 Pages
    Good Essays
  • Good Essays

    Nearly 1 out of 5,000 people have Marfan syndrome. Although Marfan syndrome is usually inherited, about 1 out of 4 people who have Marfan syndrome are the first in their family to have it. When this happens it is called a spontaneous mutation. The other 3 out of 4 people with Marfan syndrome inherit it from a parent. The chances of a parent with Marfan syndrome passing along the genetic mutation to each child they have is 50 percent.…

    • 1221 Words
    • 5 Pages
    Good Essays