Muscular Dystrophy|MD

Muscular Dystrophy (MD) is a genetic disorder caused by a defective gene, this hereditary – characterized by progressive muscle weakness, preventing the movement of muscles.
It causes weakening and breaking down of muscle fibers. The muscles become weak and susceptible to damage.
The disease affects the voluntary or skeletal muscles, which control the movements of legs, arms, and trunk. It can also affect the heart muscles and other involuntary muscles, such as those of the gut. Some forms of MD are found in infancy or childhood, others may only appear until middle age.
This progressive disease is more common in boys than girls

i. Types

Each type of MD is caused by a genetic mutation. A genetic deficiency of muscle protein, namely dystrophin.
This also responsible for the most common types of MD.

There are nine major types of muscular dystrophy according to:
– The age that the symptoms appear,
– Location of muscles involved,
– The manner in which the defective gene is passed on, and the rate that symptoms progress.

All these types affect people of all age groups.

The most common types of MD that affect children result from a genetic deficiency of the muscle protein & Dystrophin. They include:
Becker Muscular Dystrophy (BMD) and Duchenne Muscular Dystrophy (DMD).

Other common types of MD are:
– Congenital muscular dystrophy
– Myotonic muscular dystrophy
– Facioscapulohumeral muscular dystrophy
– Limb-girdle muscular dystrophy
– Distal muscular dystrophy
– Emery-Dreifuss muscular dystrophy

ii. Signs and Symptoms

The signs and symptoms of MD vary according to the types of MD.
Each type of MD is different in the body part affected, age of onset, and progression of the disease.
Some of the common symptoms are muscle weakness, apparent lack of coordination, obesity, progressive muscle wasting, weakness and loss of function, joint contractures, frontal baldness, cataracts, drooping eyelids, mental impairment, and gonadal atrophy.

Becker muscular dystrophy: 
affects mainly boys. Its symptoms are less severe and may start later. People with BMD show the symptoms such as muscle breakdown and weakness and some problems related to breathing, heart, bones, and joints. The onset of symptoms is at the age of 11.

Duchenne’s muscular dystrophy: 
This is the most severe type of MD that affects children. Symptoms of DMD are frequent fall, large calf muscles, weakness in lower leg muscles, causing difficulty in jumping and running, difficulty in getting up from a sitting or a lying position, wadding gait, and mild mental retardation. The symptoms appear between the ages 2 – 6. This type of MD first affects the upper arms, upper legs, and pelvis.

Myotonic dystrophy: 
Causes weakness and stiffness of muscles, weakening of voluntary muscles that control legs and arms, weakening of muscles of face, head, and neck, and fainting, or dizziness.

Facioscapulohumeral MD: 
Causes progressive muscle weakness involving the muscles of face, shoulders, abdomen, upper arms, feet, pelvic area, and lower arms.

Oculopharyngeal MD: 
Causes drooping of the eyelids, weakness of eye muscles, and muscles of face and throat. It results in difficulty in swallowing.

iii. Diagnosis

A careful review of patient’s family history of muscle disease can help the doctor for an accurate diagnosis. In addition to physical examination and family history, the doctor prescribes some tests for the diagnosis of the condition. A blood test such as determination of serum creatine kinase (CK) is useful to diagnose MD because this enzyme is released by the damaged muscles. High levels of CK indicate a muscle disease such as muscular dystrophy. Other helpful tests are electromyography, ultrasonography, muscle biopsy, and genetic testing.

iv. Treatment

There is no cure for any type of muscular dystrophy, treatment is given to slow the progress of the disease, it is designed to reduce or prevent the deformities in the spine and joints.

Various treatment options include medications such as mexiletine, baclofen, carbamazepine, and anti-inflammatory corticosteroids in order to manage muscle weakness, spasms, and stiffness, as well as improve muscle strength, physical therapy, assistive devices, and surgery. Physical therapy focuses on providing regular range-of-motion exercises to delay the progression of contractures and keep the joints flexible.

Some assistive devices such as braces, walkers, canes, & wheelchairs help maintain the mobility & independence. A tendon release surgery is advised in order to release the contractures.

Disclaimer: This article is for informative purposes only, and should not be used as a replacement for expert medical advice.

Disclaimers and References

DiSA is committed to promoting the rights, dignity, and inclusion of persons with disabilities as outlined in the White Paper on the Rights of Persons with Disabilities. We strive to ensure that all content on our website reflects appropriate, respectful, and inclusive language in alignment with these principles.

However, we also provide a platform for companies and organisations to advertise their services and products. While we encourage advertisers to adhere to correct terminology and inclusive practices, DiSA cannot guarantee the accuracy or appropriateness of the language used by external parties in their content.

Please note: Any views, language, or terminology used in advertisements, promotional material, or external links do not necessarily represent the views of DiSA.

DiSA disclaims any responsibility for inaccuracies or language that may not align with the White Paper or best practices for disability terminology.

Should you however encounter language or content that you believe is inappropriate or offensive, we encourage you to contact us at info@disa.org.za, so that we can address the issue.

DiSA remains dedicated to fostering a respectful and inclusive environment for all individuals. We appreciate your understanding and collaboration in supporting our mission.


While we strive for accuracy and clarity, AI-generated visuals may not always reflect real-life conditions or representations.
In addition, we feature authentic images and videos of actual instances, events, circumstances that have occurred, as well as products and services supplied by companies who advertise with us.

These authentic visuals are intended to accurately depict our content or the offerings of our advertising partners.
If you have any questions or concerns about the content displayed on this site, please feel free to contact us.

DiSA provides a platform for companies and organisations to advertise their products and services to assist persons with disabilities and their families. While we make every effort to list reputable and credible service providers, the inclusion of any company, organisation, product, or service on our website does not constitute an endorsement or guarantee by DiSA.

Please note the following: DiSA is not involved in the delivery, quality control, or customer service of any product or service offered by advertisers listed on our platform.

Any agreements, purchases, or arrangements made between users of this website and advertisers are solely between those parties. DiSA is not responsible for the outcome of such interactions.

DiSA disclaims any liability for dissatisfaction, damages, or disputes arising from products or services supplied by companies or organisations listed on our website.

We encourage users to thoroughly research and verify any service provider or product before engaging with them. If you have concerns or encounter issues with an advertiser listed on our platform, please let us know at: info@disa.org.za. We value your feedback to help maintain the integrity of our platform.


While we strive for accuracy and clarity, AI-generated visuals may not always reflect real-life conditions or representations.
In addition, we feature authentic images and videos of actual instances, events, circumstances that have occurred, as well as products and services supplied by companies who advertise with us.

These authentic visuals are intended to accurately depict our content or the offerings of our advertising partners.
If you have any questions or concerns about the content displayed on this site, please feel free to contact us.

DiSA is committed to providing accurate and up-to-date information to assist persons with disabilities and their families. However, the nature of online content and external resources means that information can change frequently.

Please note the following: DiSA cannot guarantee the accuracy, completeness, or reliability of all information on our website, particularly information obtained from external sources or links to third-party websites.
External websites may update or remove content without notice, which can result in broken links or outdated information. DiSA is not responsible for the content, accessibility, or functionality of external websites.

While we make every effort to keep our information current, some content may become outdated over time.
We encourage users to verify information directly with the relevant third parties or organisations before making any decisions based on the information found on our platform.

If you encounter a broken link or outdated content, please notify us at: info@disa.org.za and we will address it as soon as possible.
Thank you for understanding and helping us maintain a reliable and accessible platform.


While we strive for accuracy and clarity, AI-generated visuals may not always reflect real-life conditions or representations.
In addition, we feature authentic images and videos of actual instances, events, circumstances that have occurred, as well as products and services supplied by companies who advertise with us.

These authentic visuals are intended to accurately depict our content or the offerings of our advertising partners.
If you have any questions or concerns about the content displayed on this site, please feel free to contact us.

The Information services and website that we offer free of charge, is privately run and funded and is not run or funded by the government. We rely on advertising, paid services and donations to supply and improve this Free information service that we do provide.

The Companies, Clubs, Schools and Organisations that are listed on this site, have advertised or made donations to the Website and have therefore assisted us be able to provide this free Service.
Please support them as they have supported Us and please contact us via info@disa.org.za, if you can advertise with us or would like to make a donation. Alternatively, visit our “Support Us” page to find out how you can support us or acquire our services. – Thank You.

If you encounter a broken link or outdated content, please notify us at: info@disa.org.za and we will address it as soon as possible.
Thank you for understanding and helping us maintain a reliable and accessible platform.

Please Note: We do assist with inquiries via email but may need to send or copy your details and inquiry to various other organisations, companies or government departments, that we sometimes consult, so that we can help you in the best way possible.
If you have any objection to us sharing your query or contact details, please notify us in your email. We will only share your information to assist you and will never sell or use your personal information for any other purposes.

DiSA waivers any liability for what happens if information is shared or used for marketing or other purposes by other organisations who do have consent to view such information.


While we strive for accuracy and clarity, AI-generated visuals may not always reflect real-life conditions or representations.
In addition, we feature authentic images and videos of actual instances, events, circumstances that have occurred, as well as products and services supplied by companies who advertise with us.

These authentic visuals are intended to accurately depict our content or the offerings of our advertising partners.
If you have any questions or concerns about the content displayed on this site, please feel free to contact us.

Please note that this website uses images and videos that are AI-generated and created to visually represent certain information, concepts or scenarios for illustrative purposes.


While we strive for accuracy and clarity, AI-generated visuals may not always reflect real-life conditions or representations.
In addition, we feature authentic images and videos of actual instances, events, circumstances that have occurred, as well as products and services supplied by companies who advertise with us.

These authentic visuals are intended to accurately depict our content or the offerings of our advertising partners.
If you have any questions or concerns about the content displayed on this site, please feel free to contact us.

Disability Info South Africa (DiSA) is committed to protecting your personal information in compliance with the Protection of Personal Information Act (POPIA), Act No. 4 of 2013. By using our free information service, you acknowledge and agree to the following:

Collection of Personal Information:
DiSA may collect and process your personal information (such as name, contact details, and inquiries) solely for the purpose of assisting you with your requests and providing relevant information or support.

Use and Storage:
Your personal information will only be used for the purpose it was collected for, we may need to send or copy your details and inquiry to various organisations, companies or government departments, that we sometimes consult, so that we can assist you in the best way possible.
If you have any objection to us sharing your query or contact details, please notify us in your email. We will only share your information to assist you and will never sell or use your personal information for any other purposes.
DiSA implements appropriate measures to secure your personal information against unauthorized access or loss.

Consent:
By submitting your details through our Contact Form, or contacting us via our email address, you consent to allow DiSA to process your information as outlined in this disclaimer. If you are not comfortable with DiSA sharing your information for the above purposes, please contact us directly at info@disa.org.za.

Access and Updates:
You have the right to request the deletion of your personal information at any time.
To do so, please contact us at: info@disa.org.za.

Third-Party Websites:
DiSA is not responsible for the privacy practices of external websites linked on our platform. Users are encouraged to review the privacy policies of third-party sites before sharing personal information.
For any queries or concerns regarding the handling of your personal information, please contact us at: info@disa.org.za.
Thank you for trusting DiSA to support you with accessible, inclusive, and reliable information.