התוכן העיקרי

Neuromuscular Diseases

A group of genetic diseases that are characterized by progressive weakness of the muscular system. This is a group of different diseases with various causes, processes and symptoms that limit the patient's functional ability. For instance, Duchenne's Disease belongs to this group.

 

Neuromuscular disease of the spinal muscular atrophy type is a group of diseases that are characterized by symmetric and progressive muscular weakness against the background of atrophy of the frontal horn nerve cells of the spine. Its frequency is 1:10,000 births or even more. The disease is an autosomal recessive genetic disease that it to say two defective (mutant) codes of the gene are responsible for the disease. Each of the patient's parent has one normal and one abnormal gene. The patient will inherit the abnormal gene from each parent and therefore does not have even one normal gene.

 

The neuromuscular disease called after Duchenne – Duchenne Muscular Dystrophy (DMD) is a genetic recessive disease caused by the Chromosome X encoding. The frequency of the disease is 1:3,500 male births. The symptoms of the disease appear first in childhood (around the ages of 4 – 5 years) and are characterized by progressive muscular degeneration and, in some patients, by heart failure. By the start of the second decade of life, most patients are confined to a wheelchair. The disease continues to progress and death usually occurs as a result of paralysis of the respiratory muscles. The average life expectancy is approximately 17 years.

 

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