Muscular dystrophy is a disorder that causes muscle decline, muscle contractions, and movement impairment. The disorder is often identified through heart and respiratory problems as well, which are effects that may prove fatal. In particular, Duchenne muscular dystrophy is caused by lack of a protein called dystrophin in muscles. Dystrophin is an essential part of a protein complex in muscles, so its absence affects muscle function. Current research indicates that most cases of Duchenne muscular dystrophy are due to genetic mutations (particularly deletions) in the gene, usually inherited in an X-linked recessive pattern.
As a result, males are much more likely to have severe Duchenne muscular dystrophy than females One in every three thousand five hundred males is affected. However, Duchenne muscular dystrophy also arises when new mutations occur, even with no known cases in family history.
Unfortunately, there is no cure for this disorder, and individuals that are affected typically die in their thirties, Current treatment is primarily aimed at alleviating the symptoms, which include learning disabilities, cardiomyopathy, scoliosis, and respiratory difficulties due to diaphragm issues.
There are attempts being made to use infrared radiation, and certain therapies are being investigated. A patient may potentially recover from Duchenne muscular dystrophy through gene therapy, which is a process that will cause the production of dystrophin to occur. Before administering gene therapy, the gene sequence that successfully codes for dystrophin must be identified In an RNase-free laboratory, Northern blotting is used to detect specific sequences of RNA. Dynabeads are then used to quickly separate the desired portions Using a retrovirus, an intact copy of DNA can then be transcribed and inserted into the patient through bone marrow cells.
After insertion of the correct gene sequence, the individual may then be able to produce dystrophin. The most common form of muscular dystrophy is Duchenne muscular dystrophy (DMD), which affects primarily boys and is caused by a mutation in the dystrophin gene. Without dystrophin, muscle fibers become damaged and weakened over time, leading to progressive disability and eventually death. There is currently no cure for DMD, but various treatments are available to manage symptoms and improve quality of life. Diagnosis of DMD involves genetic testing and evaluation of symptoms, such as muscle weakness, difficulty walking, and delayed motor development.
Treatment may involve physical therapy, medications, and surgical interventions to address complications such as scoliosis. Additionally, research is ongoing to develop new therapies for DMD, including gene therapy, exon-skipping therapy, and other approaches that aim to increase the production or function of dystrophin. In conclusion, dystrophin is an important protein for proper muscle function, and mutations in the dystrophin gene can cause muscular dystrophies such as Duchenne muscular dystrophy. Diagnosis involves genetic testing and evaluation of symptoms, and treatment aims to manage symptoms and improve quality of life. Research is ongoing to develop new therapies for these disorders.