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What is Muscular Dystrophy?

  Muscular Dystrophy

Brief description of Muscular Dystrophy.

Muscular dystrophy (MD) is a group of muscle diseases that weaken the musculoskeletal system, causing progressive weakness and loss of muscle mass and impede locomotion. In muscular dystrophy, the abnormal genes (mutations) interfere with the production of proteins needed for healthy muscle training. Muscular dystrophies are characterized by progressive skeletal muscle weakness, defects in muscle proteins, death of muscle cells and tissue.

There are many types of muscular dystrophy. The symptoms of the most common variety begin in childhood, especially in boys. More surface area not to adulthood.

Some people who have muscular dystrophy eventually lose the ability to walk. Some may have difficulty breathing or swallowing.

There is no perfect cure for muscular dystrophy. But medications and therapy can help manage the symptoms and slow the course of disease.
It soon became evident that the disease had more than one form. The other main forms Becker, myotonic, oculopharyngeal, member-belt, congenital Facioscapulohumeral, distal, and Emery-Dreifuss muscular dystrophy. Muscular dystrophy Duchenne and Becker, being caused by a mutation of a gene on the X chromosome, affecting mainly men, although females can sometimes have serious symptoms as well. Most types of muscular dystrophy are multi-system disorders with manifestations in body systems, including the heart, gastrointestinal tract, nervous system, endocrine glands, eyes and brain.

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There are more than 60 different types of muscle wasting conditions affect about 70,000 people in the UK and the Muscular Dystrophy UK, says that their rare means that the parties are often left abandoned and isolated from nowhere to turn.
It surveyed 700 people with these conditions and found that more than half experienced a depression, one-fifth had suicidal thoughts and one out of four had to wait for more than three years after the diagnosis of the first cause for concern about a healthcare professional.
This is without emotional support is having a negative impact on people’s lives, mental health, and in the worst case, we have not even heard from people who have had thoughts of taking their own lives.
Muscular Dystrophy UK requires that each individual or family diagnosed with muscular center or clinic can be used to support a psychologist. It says that, ideally, they would be one of the nerve expertise, but there are only five dedicated expert psychologists in the country.
According to the survey 16% of respondents had not been given their diagnosis of face-to-face, but either by mail (9%) or by phone (7%).
More than three-quarters of families received emotional support from the time of diagnosis, according to research. Muscular Dystrophy UK says that the newly diagnosed, and families should be signposted to charity, so that they can get the support they need.

It also wants to see come to approach the Government of the rare disease strategy and mental health and suicide strategies “to ensure that no individual or family to live a life limiting, a rare and progressive condition falls into an emotional safety net.”

Symtoms of Muscular dystrophy

The symptoms of muscular dystrophy caused by a deterioration of the muscles of the body. This deterioration is due to the death of muscle cells and muscle tissue and leading to continuous muscle mildew and weakness. Muscular dystrophy progresses and worsens over time in the end. This results in difficulty walking, disability, the need for hand and leg stirrups and finally the use of a wheelchair.
Muscle weakness dystrophy often begins in the legs. That makes it difficult for a child to walk normally, and he or she can help walk with feet wide apart to maintain balance. The child can make his or her hands and arms used to stand on the floor and help with standing. There may fall frequently, a waddling gait, limited range of motion and pain in the calves. Until the age of 12, a child is often completely unable to walk and must use a wheelchair.
Over time, muscle weakness, and even worse severity progresses to the muscles in other parts of the body covered. These include muscles in the neck and arms. The muscles in the chest may also be affected. This can result in complications such malformations in the development of the bones of the chest and back, and scoliosis. This can lead to serious complications, such as respiratory problems and pneumonia. Some children may also be a psychological disorder, cardiac arrhythmia, or cardiomyopathy.

Some important signs and symptoms of muscular dystrophy are followings:

  • Progressive muscle mildew
  • Poor balance
  • Drooping eyelids
  • Atrophy
  • Limited range of motion
  • Difficulty of the airways
  • Scoliosis
  • Inability to walk
  • Frequent falls
  • Waddle
  • Cardiomyopathy
  • Arrhythmias
  • Muscle spasms
  • Calf strain
  • Joint contractures

Especially the main character of muscular dystrophy is a progressive muscle weakness. Specific symptoms start at different ages and in different muscle groups, depending on the type muscular dystrophy.

Duchenne muscular dystrophy

 

About half of people with muscular dystrophy have this variety. Although girls may carry slightly affected, the disease usually affects boys.
About a third of boys with Duchenne muscular dystrophy have no family history of the disease, perhaps because the gene involved may be subject to sudden abnormal change (spontaneous mutation).
Symptoms usually appear between the ages of 2 and 3, and may include:

  • Frequent falls
  • Difficulty getting up from a lying or sitting position
  • Problem running and jumping
  • Walking waddling
  • Walking on toes
  • Large calf muscles
  • Muscle pain and stiffness
  • Learning disabilities
  • Becker muscular dystrophy

Becker muscular dystrophy

Signs and symptoms of Becker muscular dystrophy are similar to those of duchenne muscular dystrophy, but generally are milder and evolve more slowly. Symptoms usually appear in adolescence, but may not occur until the mid 20s or even later.

Some other types of muscular dystrophy

Some types of muscular dystrophy are defined by a specific function, or by which symptoms first organization to start. Examples include:

Monotonic muscular dystrophy

Also known as Steinert’s disease, this form is characterized by an inability to relax muscles at will following contractions. Myotonic muscular dystrophy is the most common form of muscular dystrophy adulthood. The muscles of the face and neck are usually the first to be affected.

Facioscapulohumeral muscular dystrophy

In thistype muscle weakness usually starts on the face and shoulders. The blades can stick out like wings when a person with FSH raises his arms. Onset usually occurs in adolescence, but can begin in childhood or as late as 40 years.

Congenital muscular dystrophy

Congenital type affects boys and girls and is apparent at birth or before age 2. Some forms are progressing slowly and cause only mild disability, while others progress rapidly and cause severe disabilities.

Limb girdle muscular dystrophy

In Limb-girdle type hip and shoulder muscles are usually affected first. People with this type of muscular dystrophy may have difficulty lifting the front part of the foot and therefore can frequently trigger. Beginning usually begins in childhood or adolescence.

What are the causes of muscular dystrophy?

There are many types of muscular dystrophy that is caused by mutations in different genes. For example, Duchenne and Becker muscular dystrophy caused by mutations in the dystrophin gene, while limb girdle muscular dystrophy is caused by mutations in other genes.
Any form of muscular dystrophy is caused by a genetic mutation in this type of disease. Many of these mutations are inherited. However, some occur spontaneously in the egg of the mother or the developing embryo, and can be passed on to the next generation.
Some of the genes are involved in the production of proteins that protect muscle fiber damage. Muscular dystrophy occurs when one of these genes is defective.
The diagnosis of muscular dystrophy is based on the results of the muscle biopsy, elevated creatine phosphokinase (CpK3), electrocardiography, electromyography and analysis of DNA.
A physical examination and medical history will help the doctor determine the type of muscular dystrophy. Specific groups of muscles are affected by different types of muscular dystrophy.
seudohypertrophy: Often there is a loss of muscle mass (atrophy), which can be difficult to see because some types of muscular dystrophy causes an accumulation of fat and connective tissue that makes up the muscle appear larger. This is called pseudohypertrophy.

Diagnosis of muscular dystrophy

If a pediatrician suspects that a child may have muscular dystrophy, they’ll probably start by testing the level of creatine kinase (CK) in the blood. This muscle enzyme is very high in children with muscular dystrophy.
After you have found a high level of CK, the pediatrician will probably do DNA tests for mutations in the gene that makes dystrophin, an important muscle protein. If this genetic test is negative, then a muscle biopsy can be done to confirm the diagnosis of muscular dystrophy.
Although it is possible to screen newborns for muscular dystrophy by testing the level of creatine kinase, it is not routinely done. A major problem is that only about 10 percent of newborns with a high level of CK actually have muscular dystrophy. The other 90 percent will CPK levels returning to normal when they are a few weeks old.
Often there is a loss of muscle mass, which can be difficult to see because some types of muscular dystrophy cause a build up of fat and connective tissue that makes the muscle appear larger. This is called pseudohypertrophy.

 

Treatments of muscular dystrophy.

Followings are the treatments of muscular dystrophy:

Stem cell treatment for muscular dystrophy

Stem cells have been used in the treatment of patients with muscular dystrophy since 2005. Vari

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ous types of muscular dystrophy be considered for treatment, such as Duchenne muscular dystrophy, Becker muscular dystrophy, Limb belt and Fascio phases humeral muscular dystrophy.
The goal of treatment is to refresh the corrupted and lost muscle fibers using a stem cell transplant. To do this, the stem cells injected into a vein, and locally in the affected muscles, in order to better target areas.

 

Improvement possibilities

Stem cell therapy for muscular dystrophy may enhancements such as muscle mass and strength, movement, balance, bringing tremor and rigidity. Stem cell therapy can slow the loss of muscle mass and relieve symptoms.
However, it is important to remember that the treatment is not a cure, and it can eliminate the cause of the loss of muscle fibers. Thus, the improvements are not permanent and will take a while, depending on how fast the disease progresses. Upon receipt of your medical information to doctors, we can provide you with further instructions on relatives particular condition.

Injection  methods for muscular dystrophy treatment.

The medical team uses a combination of two injection methods for our patients diagnosed with muscular dystrophy: intravenous and intramuscular injection. More information about each type of injection below:

Intravenous injection (IV)

The delivery method intravenous (IV) is a very simple process and should already be familiar to most patients. A pipe with a catheter tip threaded onto a needle is placed into the patient’s vein. Once the correct position is obtained, the needle portion is removed and the flexible plastic catheter is left in place in the vein with the tube-joint. The solution mixed with stem cell cord blood serum is administered intravenously (after assessment by the local medical staff, dexamethasone can be considered in advance to avoid potential allergic reactions). Typically, no sedation is required for this procedure. The entire IV injection process takes less than 45 minutes to complete.

Intramuscular injection

This type of injection brings better improvements for patients diagnosed with muscular dystrophy and allow stem cells to be transplanted directly into the muscles of the affected area. On admission, doctors examine the patient and decide how stem cell packets should be injected locally into the affected muscles. This method was also applied in the treatment of limb ischemia and diabetic foot.

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