We are independent & ad-supported. We may earn a commission for purchases made through our links.
Advertiser Disclosure
Our website is an independent, advertising-supported platform. We provide our content free of charge to our readers, and to keep it that way, we rely on revenue generated through advertisements and affiliate partnerships. This means that when you click on certain links on our site and make a purchase, we may earn a commission. Learn more.
How We Make Money
We sustain our operations through affiliate commissions and advertising. If you click on an affiliate link and make a purchase, we may receive a commission from the merchant at no additional cost to you. We also display advertisements on our website, which help generate revenue to support our work and keep our content free for readers. Our editorial team operates independently of our advertising and affiliate partnerships to ensure that our content remains unbiased and focused on providing you with the best information and recommendations based on thorough research and honest evaluations. To remain transparent, we’ve provided a list of our current affiliate partners here.

What are the Genetic Causes of Muscular Dystrophy?

By Marco Sumayao
Updated May 17, 2024
Our promise to you
WiseGeek is dedicated to creating trustworthy, high-quality content that always prioritizes transparency, integrity, and inclusivity above all else. Our ensure that our content creation and review process includes rigorous fact-checking, evidence-based, and continual updates to ensure accuracy and reliability.

Our Promise to you

Founded in 2002, our company has been a trusted resource for readers seeking informative and engaging content. Our dedication to quality remains unwavering—and will never change. We follow a strict editorial policy, ensuring that our content is authored by highly qualified professionals and edited by subject matter experts. This guarantees that everything we publish is objective, accurate, and trustworthy.

Over the years, we've refined our approach to cover a wide range of topics, providing readers with reliable and practical advice to enhance their knowledge and skills. That's why millions of readers turn to us each year. Join us in celebrating the joy of learning, guided by standards you can trust.

Editorial Standards

At WiseGeek, we are committed to creating content that you can trust. Our editorial process is designed to ensure that every piece of content we publish is accurate, reliable, and informative.

Our team of experienced writers and editors follows a strict set of guidelines to ensure the highest quality content. We conduct thorough research, fact-check all information, and rely on credible sources to back up our claims. Our content is reviewed by subject-matter experts to ensure accuracy and clarity.

We believe in transparency and maintain editorial independence from our advertisers. Our team does not receive direct compensation from advertisers, allowing us to create unbiased content that prioritizes your interests.

Muscular dystrophy, in which the body's muscles are abnormally weak, is a hereditary condition. The genetic causes of muscular dystrophy are specific to the type of dystrophy the patient suffers. In general, abnormalities in an individual's genes inhibit his ability to build and maintain healthy muscles. Dystrophia myotonica (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 degenerative effects.

Among the many different genetic causes of muscular dystrophy, a defect in the gene dystrophia myotonica protein kinase (DMPK) is the most common. In some individuals, the cytosine-thymine-guanine triplet found in DMPK repeats abnormally, resulting in type 1 dystrophia myotonica (DM1). DM1 accounts for nearly 98% of dystrophia myotonica cases. Type 2 dystrophia myotonica (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 adult muscular dystrophy cases.

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 abnormality induces several complex reactions that eventually lead to muscle fiber death. Mutations in the dystrophin gene can also result in Becker's muscular dystrophy, a less severe relative of DMD. These irregularities can be caused by a number of influences, including toxic substances that damage developing fetuses in the womb.

The genetic causes of muscular dystrophy are generally untreatable, though continuing research shows promise. In the case of DM1, for example, genetic splicing has allowed researchers to replicate and reverse the condition in mice. Similar research is being conducted on the other genetic causes of muscular dystrophy, bearing mixed results.

Treatment for muscular dystrophy serves mainly to help patients manage the symptoms and sustain a decent quality of life. Medication, such as corticosteroids, can help boost the patient's strength to workable levels. Treatment is often coupled with regular physical therapy in order to improve muscle tone and delay cell degeneration. If the condition progresses to severe levels, it becomes necessary to supplement the patient's oxygen supplies through assisted respiration, as the muscle failure makes breathing difficult. Although muscular dystrophy can be extremely debilitating in serious cases, modern treatment makes it possible for individuals afflicted with the disease to cope with the symptoms.

WiseGeek is dedicated to providing accurate and trustworthy information. We carefully select reputable sources and employ a rigorous fact-checking process to maintain the highest standards. To learn more about our commitment to accuracy, read our editorial process.
Discussion Comments
By candyquilt — On Oct 26, 2014

There are about nine different types of muscular dystrophy caused by slightly different mutations in different chromosomes or genes. It's usually DM1 and DM2 or the X-chromosome.

That's why very detailed genetic testing is required to diagnose the exact cause. This is also why several patients who suffer from this condition may exhibit different symptoms. Their disorder may progress at different rates with some being more debilitating than others. Those with milder forms do have a decent life span into their fifties. I hope that scientists will soon discover a cure, a way to prevent the mutation in the first place.

By turquoise — On Oct 26, 2014

@fify-- No, it's not always hereditary. The genetic mutation may take place while the fetus is forming. But as far as I know, this is still a smaller percentages. Most cases of muscular dystrophy are hereditary. And they are more likely to occur in males.

By fify — On Oct 25, 2014

So muscular dystrophy is not always hereditary?

The article mentioned exposure to toxic compounds in the womb. So that means that muscular dystrophy can be a result of a genetic mutation without it being hereditary.

I thought that this disorder always passed from family. I'm surprised to know that that's not always the case.

WiseGeek, in your inbox

Our latest articles, guides, and more, delivered daily.

WiseGeek, in your inbox

Our latest articles, guides, and more, delivered daily.