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The characteristics of muscular dystrophy a genetic disease

Congenital muscular dystrophies Emery-Dreifuss muscular dystrophy MDs can affect people of all ages. Although some forms first become apparent in infancy or childhood, others may not appear until middle age or later.

  1. Duchenne muscular dystrophy This is the most common form of muscular dystrophy but also the most severe. All types of muscular dystrophy slowly get worse, but how fast this happens varies widely.
  2. However the results of this test alone are insufficient to identify the disease.
  3. Myotonic dystrophy type 1 is the most common form affecting adults. With Becker muscular dystrophy, the incidence is one in 20,000 males.
  4. The cells from these samples are then tested for the mutation in the DMD gene.
  5. A muscle biopsy may be used to confirm the diagnosis. With Becker muscular dystrophy, the incidence is one in 20,000 males.

Duchenne muscular dystrophy is the most common form affecting children. Myotonic dystrophy type 1 is the most common form affecting adults.

  • What are symptoms of muscular dystrophy?
  • Initial symptoms usually include difficulty walking and getting off the floor;
  • Diagnosis The increased permeability of the muscles cells leads to the release of muscle-specific proteins that can be detected in the blood;
  • Duchenne muscular dystrophy is the most common form affecting children.

The following are three primary types of inheritance by which the faulty gene that causes MD can be passed along to offspring: Genes that are X-linked recessive are carried by the female on one of the X chromosomes that determine the sex of the child.

As such, only boys will develop conditions determined by these genes. Their mothers, known as carriers, will usually not show signs of the disease. A son of a carrier of MD has about a 50 percent chance of developing the disease.

  1. This causes muscle cells to become leaky and eventually swell and burst. It can be so mild that it is not recognized, but it can also be severe.
  2. This may be hard to see because some types of muscular dystrophy cause a buildup of fat and connective tissue that makes the muscle appear larger.
  3. The person should be as active as possible.
  4. A son of a carrier of MD has about a 50 percent chance of developing the disease. Males only have one X chromosome and therefore only need to inherit one copy of the mutated gene to develop the disease.
  5. Despite the loss of muscle mass, the size of certain muscles appears increased because of the presence of high levels of fat and connective tissue.

A daughter of a carrier has a 50 percent chance of becoming a carrier. If a boy is unaffected, he cannot pass on MD. However, daughters from a man with an X-linked dystrophy will all be carriers.

For this type of inheritance, both parents must pass on the faulty gene, so both copies of the culprit gene are abnormal. Neither parent shows any symptoms, but each of their offspring, whether boy or girl, will have a 25 percent chance of developing the disease.

Limb-girdle type 2 MDs are autosomal recessive. In this case, having only one copy of the abnormal gene is enough to develop MD. This faulty gene can come from either parent, and it can affect either sex.

What is muscular dystrophy?

Each child of an affected parent will have a 50 percent chance of developing MD. For this type of inheritance, the severity of MD can vary greatly. It can be so mild that it is not recognized, but it can also be severe. What causes muscular dystrophy?

Muscular dystrophy

More than 30 genes have been identified to cause different types of muscular dystrophies. Many muscular dystrophies are now diagnosed through genetic testing. What are symptoms of muscular dystrophy?

  • Their mothers, known as carriers, will usually not show signs of the disease;
  • Treatment Regular physiotherapy can help prolong mobility.

Muscles in charge of eye closure, facial expression, talking, swallowing, breathing, and moving upper or lower extremities might be involved to various extents in different kinds of muscular dystrophies.

Some muscular dystrophies also affect the heart muscle causing cardiomyopathy or dysrhythmias.