Duchenne Muscular DystrophyDuchenne Muscular Dystrophy

 

Stem Cell Therapies

Stem Cell Therapy

Muscular dystrophy is a group of medical conditions in which the muscles become weakened and rigid over a period of time. Duchenne muscular dystrophy is the most common type of muscular dystrophy. This disease occurs as a result of a defect in the gene that controls and maintains the muscles of the body. It is more predominant in young boys, and it usually presents with symptoms when they are in their early childhood. People affected by this disease have problems walking, climbing stairs, and heights. They might lose the ability to walk entirely as the disease progresses. Typically, this disease leads to the loss of muscle tone and muscle in the upper legs, and around the pelvis, followed subsequently by the muscles of the upper limb. This disease might also affect other systems of the body such as the pulmonary system and the cardiac system. It’s an X-linked recessive disease. It’s a genetic disorder, and it’s due to the defect of the protein dystrophin. This mutation of the gene that codes for the protein dystrophin, leads to a problem with the body muscle fibers. There is no cure for Duchenne muscular dystrophy, for now, however, therapies can be used to make life more comfortable for the patients. Physical therapy, physiotherapy, and surgeries are all means to achieve this.  The average life expectancy of someone with this disease is around 26, however, with proper care and management, people affected by this disease do live up to their 30’s and 40’s.

 

What Are The Signs And Symptoms Of Duchenne Muscular Dystrophy?

The main symptom of this muscular disease is muscle weakness, which can be associated with muscle atrophy and wasting. The voluntary muscles of the of the body are usually the first to be affected. They include the muscles of the hip, thigh muscles, shoulders and the leg. This would spread to other parts of the body like the arms, back region, and the neck. The calf muscles become bigger. Other manifestations of this disease are

  1. The irregular and abnormal way of walking. Patients do often walk on their toes as a compensatory adaptation to the weakness of the knee extensors.
  2. People affected by this disease do experience frequent falls.
  3. Tiredness
  4. Patients suffering from Duchenne muscular dystrophy also have problems with their body motor functions such as walking, climbing and running.
  5. They may also experience abnormal contractions in some part of their bodies such as in their Achilles tendon and Hamstrings, as a result of the shortening of their connective tissues.
  6. Difficulty in walking that worsens over time.
  7. Defects and deformities of the muscle fibers.
  8. Some children affected with this disease might experience pseudohypertrophy of their calf muscles. The muscles are gradually replaced by adipose and other types of connective tissues.
  9. As the disease progress, most children affected eventually lose the ability to walk by the age of 12.
  10. Some patients might experience some skeletal deformities, such as scoliosis.
  11. Patients often find it difficult getting up from their bed or seat. Also, they do have a hard time lying or assuming the sitting position.
  12. Most men that have this disease often become paralyzed from the neck downward by the age of twenty-one.
  13. As the disease progresses, the loss of muscle wasting moves from the extremities to other parts of the body such as the respiratory muscles. This might eventually lead to the death of the patient if the disease is not well managed.
  14. Patients might experience heart diseases such as heart failure and arrhythmia.
  15. Pulmonary disorders that patients might experience are pneumonia and the aspiration of substances such as food into the lungs. Although this tends to occur at the later stages of the disease.

What Are The Causes Of Duchenne Muscular Dystrophy?

Duchenne muscular dystrophy is caused as a result of the mutation of the gene that codes for dystrophin. Dystrophin’s function is to connect the cytoskeleton of the muscle fiber to the extracellular matrix. However, this gene is defected due to mutations. This disease is more predominant in male children than in female kids. In biology, it’s a sex-linked disease. Duchenne muscular dystrophy is not a common disease. People who have a relative that has had the disease before should visit their doctors for the genetic evaluation of their children when it’s still intrauterine. However, people without any history of the disease still have the disease.

How Is Duchenne Muscular Dystrophy Diagnosed?

Genetic counseling is always suggested for people that have had relatives that suffered from the disease in the past. A lot of success has been recorded in the diagnosis of this disease. This disease can be detected with an almost 100% accuracy by carrying out some genetic tests and evaluations when a woman is pregnant. Below are some of the ways this disease can be diagnosed;

  1. DNA test: DNA testing can be used to analyze and identify any type of mutation that might be present in the genome of an individual. DNA testing can detect the exons affected by the mutation. It’s mostly used as a confirmatory tool in most cases.
  2. Muscle biopsy: This is done when the DNA testing has failed to detect the mutation. A piece of muscle tissue is gotten by utilizing a biopsy needle. The extracted tissue is then passed different evaluations. This procedure is used when DNA testing has failed.

How Is Duchenne Muscular Dystrophy Currently Treated?

There is no cure for this disease, however, there are some medications and therapies that could be done to make life more comfortable for the patient. These treatments could also prolong the life of the patient from an average life expectancy of 12, to the range of 30’s to 40’s. Some medications that could be administered apart from physiotherapy sessions are corticosteroids and symptomatic treatments.

Stem Cell Therapy Of Duchene Muscular Dystrophy

Pluripotent stem cells have been used in the treatment of this disease. These are stem cells that are capable of differentiating into other types of cell or tissue. However, the purpose is to grow them into healthy muscle tissues that would replace the weak and atrophy muscle cells and tissue. Also, the dystrophin gene can be repaired by the stem cells because they have the ability to repair, and regenerate cells. Although studies and trial are still in its early stage, it does have a lot of potentials to be successful, and finally be the cure for this debilitating disease.

References

Anon, (2018). [online] Available at http://Duchenne muscular dystrophy stem cell [Accessed 23 Jan. 2018].

Fairclough, R., Bareja, A., and Davies, K. (2011). Progress in therapy for Duchenne muscular dystrophy. Experimental Physiology, 96(11), pp.1101-1113.

Guiraud, S., Chen, H., Burns, D. and Davies, K. (2015). Advances in genetic therapeutic strategies for Duchenne muscular dystrophy. Experimental Physiology, 100(12), pp.1458-1467.

LoMauro, A., Romei, M., D’Angelo, M., and Aliverti, A. (2013). Determinants of cough efficiency in Duchenne muscular dystrophy. Pediatric Pulmonology