Muscular Dystrophy

Background Information:

Muscular dystrophy (MD) is a genetic disorder that causes the deterioration of skeletal muscles, the muscles that enable the human body to move. People with muscular dystrophy have missing or incorrect information within their genes, which prohibits the development of the proteins they need for healthy muscles. Due to fact that muscular dystrophy is genetic, it is not contagious or contractible from another person; a person must be born with the problem.

Muscular dystrophy breaks down muscles over a period of time, causing the patients of the disease to gradually lose their ability to do daily and simple tasks, like sitting up or bending down. A patient with muscular dystrophy may have symptoms as a baby or later on in their life.

Duchenne muscular dystrophy, also known as DMD, the most common type of muscular dystrophy, is caused by the incorrect information with the gene called dystrophin. The function of this gene is to help muscle cells keep their strength and shape. Without the presence of this gene, muscles begin to deteriorate and a person’s health becomes weaker. Duchenne muscular dystrophy is one of the types that affect boys, and symptoms of the disease begin to show between the ages of two and six. Most children with duchenne muscular dystrophy will require transportation by wheelchair by the age of ten or twelve. Patients with duchenne muscular dystrophy may experience heart complications, and need to be meticulously monitored by pulmonologists and cardiologists. They can also develop scoliosis and tightness in their joints. DMD is a muscle degenerative disease. Muscles that control essential tasks, like breathing may grow weak, requiring the patient to use a ventilator.

Treatments

Diagnosis:

A basic physical exam will be performed by the doctor to look for the general signs of muscular dystrophy. Following this examination, the doctor will request information about your medical history. This includes any concerns you have, your past health, any medications you are currently taking, your immediate family’s health, any allergies you may have, and other matters.

Blood tests can help the doctor narrow down which type of muscular dystrophy a person has and eliminate the possibility of other genetic diseases that damage nerves or muscles. One blood test analyzes the components of the patients blood, including, the levels of the enzyme, serum creatine kinase, and the levels of certain proteins that are responsible for chemical changes in the body. Abnormally high levels of serum creatine kinase in the blood from muscle cells indicates that the enzyme is causing damage to the muscle. Other blood tests are used to identify the presence of dystrophin, which is a gene that regulates muscle health and its shape. Blood tests are available to create a diagnostic from some of these disorders. There are also a few types of tests that look into the DNA of the patient. Different types of blood tests can be useful in diagnosing duchenne muscular dystrophy, and also a numerous amount of different types of muscular dystrophy.

In some cases, a muscle biopsy is recommended. This procedure includes the doctor detaching a small sample of muscle tissue and analyzing it under the lens of a microscope. If a person is ill with muscular dystrophy, the sample of muscle tissue will visually show some abnormally enlarged fibers, and also evidence of fiber deterioration in different areas.

How Is MD Treated?

There is not a cure yet for muscular dystrophy, but any doctors and scientists are researching different methods to find a cure. Some scientists are trying to repair the abnormal genes that lead to muscular dystrophy so they will make the right proteins. Another group of scientists are trying to make chemicals and new medicines that will carry out the functions of the abnormal proteins in the body. Every single one of these scientists are working hard so that these chemical and genetic fixes will assist and hopefully cure the frail muscles to work properly in people with muscular dystrophy.

There are a few activities children and adults alike can do by themselves to help their muscles. Certain stretches and therapy can help people with muscular dystrophy avoid stiffening of the muscles near the joints, also called contractures, which make mobility difficult and lock the joints in painful positions. In many cases, teenagers are equipped with custom braces to protect flexible joints and tendons. In a few cases, surgery is used to reduce the amount of pain and increase mobility that was reduced from contractures.

Some of our body functions, like breathing, depend on certain muscles to properly work. A few patients with muscular dystrophy need artificial respiratory aids, such as a ventilator, to enable them to breathe. If a person was diagnosed with muscular dystrophy during childhood, that child may suffer complications including scoliosis, as a result of weakened muscles and joint inflexibility.

For some variations of muscular dystrophy medication can be beneficial. For example, males with duchenne muscular dystrophy may be helped by a prescription called prednisone, and patients of myotonic muscular dystrophy might use the drug, mexilitine, to relax very tight muscles.

Currently no scientific cure has been found for Muscular Dystrophy, disregarding its specific form. However, this is not a cause to be disheartened as various types of therapy and drugs are available and can assist a patient with DMD into their adult years. In order for you as a parent to fully develop an understanding about therapies available to your child, as this article continues, we will further discuss a rough outline of the benefits your child will be offered under the care of a specialist. Please keep in mind that these are only possible options that your child may choose from depending on how strongly he is being affected. These therapies also coexist with a clean diet and moderate exercise so as to keep your child as happy and healthy as possible. Most medical care for cases of Duchenne Muscular Dystrophy include steroids such as glucocorticoids, prednisolone, and deflazacort.These medications are meant to delay muscle deterioration among other things and could quite possibly be taken in repetitive or continuous periods of time. Before giving your child these medications, we humbly advise you to further research about their side-effects that they might hold. Some people with DMD acquire osteoporosis or thinning of the bones which may be caused by steroid treatment. This can be prevented by allowing your child’s intake of Vitamin D to increase whether by taking him out to enjoy the sunlight, by drinking lots of milk, by taking dietary supplements, or by taking bisphosphonates. If your child faces complications towards breathing, you might consider non-invasive ventilation which is simply a mask which delivers pressurised air to your child with minimal intervention in daily activities. Your child will have occasional ECG’s and may have to take certain drugs like beta-blockers to assist a weakening heart. Physical and occupational therapy are both liable and recommended courses of action for your child. For further information about DMD treatment please contact your local specialist. We are here to inform you, not discourage. If you have any troubles please feel free to contact us and talk it out. We are always willing to listen to your troubles. Please contact your doctor right away if any unusual symptoms or worsening occurs.

Current Research:

Although frustrating, current research has not yielded very many breakthroughs on new treatments and therapy for muscular dystrophy. Many treatments are short-term and are only able to prolong the lives of patients with MD. There are many research facilities as well as non-profit organizations currently involved in the development of new forms of medical care but drug development is somewhat delayed due to all the complicated processes needed to ensure its safety. In the lead is the NINDS (National Institute of Neurological Disorders and Stroke) and the other institutes that fall under the umbrella of the National Institutes of Health (NIH). They are working diligently so that your child may benefit from modern-day technological advancements that will soon cleanse him of DMD. Recently, small scientific discoveries have been made that might lead to treatment production progress. Santhera, a pharmaceutical company, announced that Catena/Roxone might contribute to the delay of weakening abilities to respire. Another recent study was testing drugs commonly known as cialis and viagra. In a trial, young boys diagnosed with Duchenne Muscular Dystrophy were given a single dose of this drug and their blood flow to their muscles shot up. It is believed that this surge of blood flow may contribute to the delay of muscle deterioration, but has yet to be scientifically proven. Just a couple days ago a biotech company, Prosensa updated the scientific world about its latest program. They are planning to begin giving out doses of Drisapersen which is shown to skip over exon 51 in dystrophin and has shown promising results. For further updates on medical treatment for DMD and when it will be readily available to the global market, please feel free to contact us at our toll-free number during office hours and/or subscribe to our weekly emails in which we discuss the latest news concerning your child’s shining future.

Why is its name Duchenne Muscular Dystrophy? What is the definition of Muscular dystrophy?

Duchenne muscular dystrophy was named after its discoverer, the French neurologist, Guillaume-Benjamin-Amand Duchenne. The term muscular dystrophy is created by several numbers of medical terminology prefixes, word roots, and suffixes. Firstly, the word “muscular”, contains the word root “musc” which means muscle. The suffix of “muscular”, is “-ar,” which can be defined as “pertaining to.” The word “muscular,” means “pertaining to muscle.” Secondly, the word “dystrophy,” is composed of the prefix, “dys-,” and the suffix “-trophy.” The prefix “dys-“has the definition of “painful/difficult,” and the suffix “-trophy,” means “development.” In full, muscular dystrophy can be defined as “painful and difficult development that pertains to the muscle.”

What are Genes??

A gene is the one sided unit that is passed down from generation to generation. A person can have changes (or mutations) in their genes which have the ability to cause many health problems for the person hosting the malfunctioning genes. Depending on the type of change, the effect can be small; like a change in eye color, or it can lead to major health issues.

Mutations in a person’s genes results in the malfunctioning of genes. Within biology, we have learnt that in certain cases, there is a dominant gene that can hide the defective gene, which may also be called a recessive gene. In these cases, the dominant gene is strong enough to dampen the recessive trait, and keep the body functioning as it is supposed to.

A person or any other organism can be born with gene mutations, or they can develop mutations over the years in their lives. If the gene mutation is present within the egg or sperm cells of the parents, the children/offspring can have the gene mutation passed down to them by their parents. When such a case as this occurs, the mutation is present within every cell of the body, and the human body is not able to fix the mutation on its own.