Muscular dystrophy is an inherited condition caused by abnormalities in an individual’s genes that inhibit their ability to build and maintain healthy muscles. The genetic causes of muscular dystrophy are specific to the type of dystrophy the patient has. Treatment is primarily to help patients manage symptoms and maintain a decent quality of life.
Muscular dystrophy, in which the body’s muscles are abnormally weak, is an inherited condition. The genetic causes of muscular dystrophy are specific to the type of dystrophy the patient has. In general, abnormalities in an individual’s genes inhibit their ability to build and maintain healthy muscles. Myotonic dystrophy (DM), for example, is linked to defects in chromosomes 3 and 19. Although researchers have yet to develop treatments that effectively address the genetic causes of muscular dystrophy, proper exercise and therapy can delay the degenerative effects.
Of the many different genetic causes of muscular dystrophy, a defect in the myotonic dystrophy protein kinase (DMPK) gene is the most common. In some individuals, the cytosine-thymine-guanine triplet found in DMPK repeats abnormally, resulting in myotonic dystrophy type 1 (DM1). DM1 accounts for nearly 98% of myotonic dystrophy cases. Myotonic dystrophy type 2 (DM2), on the other hand, is caused by a repeat in the cytosine-cytosine-thymine-guanine (CCTG) chain in the zinc finger protein 9 (ZFN9) gene. Both DM1 and DM2 are among the majority of cases of adult muscular dystrophy.
Another very common type of muscular dystrophy is Duchenne muscular dystrophy (DMD). In DMD, the genetic causes of muscular dystrophy are mutations in the dystrophin gene. The anomaly induces several complex reactions that ultimately lead to the death of muscle fibers. Mutations in the dystrophin gene can also cause Becker muscular dystrophy, a less severe relative of DMD. These irregularities can be caused by a variety of influences, including toxic substances that harm developing fetuses in the uterus.
Genetic causes of muscular dystrophy are usually incurable, although ongoing research shows promising results. In the case of DM1, for example, gene splicing allowed researchers to replicate and reverse the condition in mice. Similar research is underway on the other genetic causes of muscular dystrophy, with mixed results.
Treatment for muscular dystrophy is primarily to help patients manage symptoms and maintain a decent quality of life. Medications, such as corticosteroids, can help increase a patient’s strength to workable levels. Treatment is often combined with regular physical therapy to improve muscle tone and delay cellular degeneration. If the condition progresses to severe levels, it becomes necessary to supplement the patient’s oxygen supplies through assisted breathing, as muscle failure makes breathing difficult. Although muscular dystrophy can be extremely debilitating in severe cases, modern treatment allows people with the disease to cope with symptoms.
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