Duchenne Muscular Dystrophy is one of the twenty known types of Muscular Dystrophy Diseases. Also called DMD, this disease is one of forty neuro-muscular diseases that changes lives daily. This disease is the most common childhood disease out of all of the neuro-muscular diseases, affecting one in every 3,500 boys in the world. The outcome of DMD is usually inevrtable, a result of death before the age of 25. However, the receivable information, increasing medical advances. and growing support for this crippling disease has cushioned the blow to families everywhere.
Duchenne Muscular Dystrophy starts at conception when a mutation in the gene of the X chromosome occurs.
This type of Muscular Dystrophy can only affect males, being either passed down from mother to child, or started by a new gene mutation, In females, cell nuclei consist of two X-chromosomes. When a gene defect occurs on the leg of one X-chromosome, the duplicate leg on the other chhromosome carries backrup genetic information. Because of this extra X, girls do not receive the consequences of DMD.
In males, there is no duplicate back-up leg on the Y-chromosome to compensate for the X- chromosome’s defect, causing the mutation to slowly disintegrate the muscles of the body. Duchenne muscular dystrophy (DMD) is a genetic disorder that primarily affects boys and leads to progressive muscle weakness and wasting. It is caused by a mutation in the dystrophin gene, which produces a protein called dystrophin that is essential for proper muscle function.
DMD is a rare disorder, affecting approximately 1 in every 5,000-10,000 male births worldwide.
Symptoms usually begin to appear in early childhood, with delayed motor development, difficulty standing or walking, and frequent falls. As the disease progresses, muscle weakness and wasting spread to other parts of the body, including the heart and respiratory muscles, leading to serious complications such as heart failure and respiratory failure. Diagnosis of DMD involves genetic testing to identify mutations in the dystrophin gene, as well as evaluation of symptoms such as muscle weakness, delayed motor development, and frequent falls. Treatment focuses on managing symptoms and improving quality of life, and may involve physical therapy, medications, and surgical interventions to address complications such as scoliosis and cardiomyopathy.
Research is ongoing to develop new treatments for DMD, including gene therapy and exon-skipping therapy, which aim to increase the production or function of dystrophin. Additionally, supportive care and palliative care can help to manage symptoms and improve quality of life for individuals with DMD and their families. In conclusion, Duchenne muscular dystrophy is a genetic disorder that primarily affects boys and leads to progressive muscle weakness and wasting. Diagnosis involves genetic testing and evaluation of symptoms, and treatment focuses on managing symptoms and improving quality of life. Research is ongoing to develop new treatments for this rare disorder. In conclusion, Duchenne muscular dystrophy is a genetic disorder that primarily affects boys and is characterized by progressive muscle weakness and wasting. Diagnosis involves genetic testing and evaluation of symptoms, and treatment aims to manage symptoms and improve quality of life. Ongoing research is focused on developing new therapies for DMD and providing comprehensive care and support to individuals with the condition.