Email to Your Friends

Muscular Dystrophy: Cause, Symptoms, And Treatment

what is muscular dystrophy

what is muscular dystrophy

Muscular Dystrophy

Muscular dystrophy includes over 30 muscle-wasting disorders of the skeletal muscles, the heart, and the endocrine system. A faulty gene produces little or no dystrophin, a protein that maintains muscle strength and tone, leading to muscle weakness that worsens over time. Symptoms include abnormal gait, deformed spine and joints, and breathing problems. Patients find it tough to perform daily tasks, and in severe cases, die in their 20s.

Muscular dystrophy includes a group of over 30 degenerative muscle disorders, each of which varies in severity and in the group of muscles affected.

Muscular dystrophy is an umbrella term for over 30 muscle-wasting disorders of the skeletal muscles, heart, eyes, and the nervous system.

Although the condition is defined as a disorder of the skeletal muscles, various body systems can be affected, including the nervous system, heart, skin, eyes, endocrine system, and gastrointestinal system.

What Causes Muscular Dystrophy?

Muscular dystrophy is not triggered by environmental factors but by a flaw or defect in a particular gene which helps produce the muscle protein dystrophin. Dystrophin is almost like a lubricant, helping muscles maintain their tone and resist daily wear and tear.

A faulty gene can’t produce enough dystrophin, the protein that maintains muscle tension, and this causes muscle weakness.

When the gene does not produce dystrophin or does so in insufficient amounts, the muscles progressively deteriorate, and that has a cascading impact on the body. Although muscular dystrophy is largely an inherited trait, the dystrophin gene can also be damaged spontaneously. What triggers this damage is still unknown, but even people who have no history of the disease can develop it.1

Muscular Dystrophy Types And Symptoms

The general signs of muscular dystrophy are fairly distinctive. However, there are many types of the disease, and each variant has slightly different symptoms and time of onset. Dystrophies that occur at birth or become visible in infancy are known as congenital muscular dystrophies.

1. Duchenne Muscular Dystrophy

This is the commonest form of muscular dystrophy and mostly affects boys. Girls are rarely affected though they may be carriers. In fact, sons of women who are carriers have a 50% chance of inheriting the condition, while daughters have a 50% chance of being carriers.

Symptoms include muscle weakness, frequent falls, and breathing trouble. It affects mostly male toddlers and they do not live beyond their 20s.

Symptoms of Duchenne muscular dystrophy such as the inability to stand for long, an abnormal gait, and general muscle weakness appear as early as age 2, when a healthy child should be walking. Such children often cannot walk even at age 12.

They also develop breathing difficulties and may require a respirator. Once the heart and lung muscles are affected, breathing difficulty becomes the leading cause of death. Duchenne muscular dystrophy progresses so fast that most patients do not live beyond their 20s.

Other symptoms include problems with motor skills, difficulty in swallowing, and frequent falls.2

2. Becker Muscular Dystrophy

Though symptoms include muscle weakness in the lower body, a curved spine, and breathing difficulties, the condition isn’t fatal.

This form is less severe as dystrophin is not completely absent, but produced in small quantities in the body. While muscle weakness occurs in many parts, it is most noticeable in the lower half of the body.

People with Becker muscular dystrophy usually walk on their toes, develop skeletal deformities in the chest and back (scoliosis), and have trouble breathing. Symptoms, however, are less severe than in Duchenne and can be managed better. Many patients live well into old age.3

3. Distal Muscular Dystrophy

Patients of both sexes have difficulty extending their fingers, lifting things, or climbing stairs. This develops around age 20 and is not fatal.

This form of dystrophy only develops around age 20 and is not life-threatening. It is one of the mildest forms of the disease and can affect both men and women. Distal muscles in the hands, lower legs, and feet are mostly affected though the disease can spread to other muscles too.

Symptoms include a slow loss of function of the limb muscles. Fine movements of the hand are compromised. It also becomes difficult to extend the fingers, lift things, walk for long, or climb stairs.4

4. Myotonic Muscular Dystrophy

In this commonest form of muscular dystrophy in adults, the patient has difficulty relaxing the muscles.

Also called Steinert’s disease, myotonic muscular dystrophy has unique symptoms. The muscles of an affected person show delayed relaxation.

The easiest way to identify an affected person is by observing their limbs – most people look like they are holding something, and it takes a while for them to stop contracting their muscles and to release them. This gets worse in cold weather.

This variant is most common in adults but can appear in childhood too. The disease can also affect the heart, the central nervous system, the eyes, the gastrointestinal tract, and hormone-producing glands.5

5. Limb-Girdle Muscular Dystrophy

This dystrophy becomes visible in childhood and affects the shoulder and the hips. 

This is a group of at least 18 inherited disorders that begin affecting the shoulder girdles and the hips and progress to other muscles. They develop in late childhood or early adulthood and can be fatal in some cases.

Usually, the first sign is weakness in the pelvic muscles, which means the patient has difficulty climbing stairs or get up from a seated position. The patient may have an abnormal gait and can experience bouts of palpitation and may even pass out. Eventually, the patient loses movement and is wheelchair-bound.6

6. Facioscapulohumeral Muscular Dystrophy

As the facial, shoulder, and upper arm muscles are affected, patients find it difficult to purse their lips and raise their arms.

As the name suggests, the body parts affected by this dystrophy are the face, the shoulder blades, and the upper arms, though eventually other body parts are also affected. Usually, muscular weakness sets in during adolescence, but both the severity and the onset vary widely from patient to patient.

Because the facial muscles are weak, whistling or drinking with a straw is difficult. The affected upper arm muscles make it difficult to raise the arms above the head, and the shoulder blades protrude, making them look like wings. The patient’s condition worsens over decades and he or she require wheelchair support.7

7. Oculopharyngeal Muscular Dystrophy

Setting in only after 40, this dystrophy causes droopy eyelids and hinders swallowing of food and liquids.

Oculophrayngeal muscular dystrophy begins in adulthood, usually after age 40. This causes weakness in the muscles of eyelids and the pharynx. Typically, the patient has droopy eyelids and difficulty swallowing solid food (also liquids at an advanced stage). Other affected areas include the tongue, hips and legs, and parts of the face. This form is quite rare and not very severe.8

8. Emery-Dreifuss Muscular Dystrophy

In early childhood, it manifests in the deformities of ankle, elbow, and the neck joints. In adulthood, it affects the heart muscles.

The Emery-Dreifuss muscular dystrophy affects the skeletal and the cardiac muscles. This disorder sets in during early childhood and is characterized by deformities of joints like the elbows, ankles, and the neck. In adulthood, all patients develop heart problems like irregular beats and palpitation.9

Common Symptoms

Symptoms that present across all 30 kinds of muscle dystrophy include muscle weakness and breathing difficulty. Most people with muscular dystrophies struggle to perform daily functions.

Whether one can lift oneself up from a squatting position without using the hands is often a test for identifying muscular dystrophy.

Another symptom is Gowers’ sign. People with this symptom cannot get up from a squatting position easily. They often need the support of their hands to pull themselves upright, a clear indicator of weakness in the lower half of the body. A test for Gowers’s sign is often the first medical test done to determine if someone has muscular dystrophy or some other neuromuscular disorder.10

Treatment And Quality Of Life

As of now, muscular dystrophy is incurable, but doctors can recommend steroids to slow down disease progression and medicines to delay cell death.

There is no complete cure for muscular dystrophy. Once the condition develops, the only choice doctors have is helping the patient have the best possible quality of life using drugs such as steroids to slow the progress of the disease, immunosuppressants to delay damage to dying cells, and anticonvulsants to control seizures.

A Combination Of Therapies

All efforts are made to prevent lung infections. Physiotherapy, speech therapy, respiratory therapy, and occupational therapy are other lines of treatment. Sometimes, orthopedic surgery is also used to correct posture.11

Nutrition And Supplements

Eat a balanced diet to get necessary nutrition and avoid processed food, coffee, alcohol, and tobacco.

There is some reason to believe that nutritional deficiencies can make the problem worse. Addressing these deficiencies could significantly alleviate the severity of some symptoms. Refined foods such as pasta, sugar, and white bread are best avoided. It is advisable to avoid stimulants such as coffee, tobacco, and alcohol too.

Treatment of myotonic dystrophy patients with selenium and vitamin E supplements has been shown to help improve their grip, gait, ability to move from one posture to another, and overall physical capacity.12

Ayurvedic Treatment

Ayurveda identifies muscular dystrophy as a beeja dosha (genetic disorder) caused by an imbalance in vata dosha and a dysfunction in the agni (enzyme) responsible for mamsa (muscle tissue).

Regular yoga and Ayurvedic treatment with panchakarma, upakarma, and rasayana therapy can improve the patients’ breathing, mobility, and ability to take care of themselves.

Ayurvedic therapy to alleviate some of the vata dosha-related symptoms of muscular dystrophy involves panchakarma, which detoxifies the body, along with upakarma therapies like snehana (oil massage), abhyanga (Ayurvedic oil massage), and swedana (steam therapy) to increase metabolic activity. This is followed by giving the patient rasayana drugs or rejuvenators to delay cell death.13

There has been some proof that Ayurveda helps address some of the symptoms associated with muscular dystrophy. A clinical study found that Duchenne muscular dystrophy patients who underwent regular yoga and Ayurvedic treatment for 18 months reported an improvement in their mobility, ability to take care of themselves, and in breathing.14

Hope For The Future

Intense research continues to be carried out globally to better understand muscular dystrophy and to find effective treatments. This includes studies on ways to replace the muscle protein dystrophin and to help prevent muscle injury. Clinical trials of some steroidal medications have also been fast-tracked to help patients.

Ongoing research for treatment focuses on: 1. replacing the protein or the faulty gene to prevent muscle wasting and 2. promoting muscle repair.

Gene therapy is another promising treatment path that is being extensively studied. Scientists hope that by successfully inserting a replacement copy of the dystrophin gene, people with Duchenne muscular dystrophy could derive more permanent benefits.

Research is also focusing on ways to promote muscle repair, increase strength, and trigger regrowth. Stem cell transplantation into the muscle to accelerate repair is a research area that is generating a lot of interest. Scientists are, however, quick to warn that a complete halt or reversal of the disease is unlikely.15

References   [ + ]

1, 11. NINDS Muscular Dystrophy Information Page, National Institute Of Neurological Disorders And Stroke.
2. Duchenne muscular dystrophy, US National Library Of Medicine.
3. On Implementation of the Muscular Dystrophy Community Assistance, Research and Education Amendments of 2001, National Institutes Of Health.
4. Dystrophies, Muscular, A. A. Amato, and R. C. Griggs. “Distal muscular dystrophies.” Muscular Dystrophies 101 (2011): 239.
5. Turner, Chris, and David Hilton-Jones. “The myotonic dystrophies: diagnosis and management.” Journal of Neurology, Neurosurgery & Psychiatry 81, no. 4 (2010): 358-367.
6. Limb-Girdle Muscular Dystrophies. U.S. National Library of Medicine
7. Facioscapulohumeral Muscular Dystrophy. U.S. National Library of Medicine
8. Oculopharyngeal Muscular Dystrophy. U.S. National Library of Medicine
9. Emery-Dreifuss Muscular Dystrophy. U.S. National Library of Medicine
10. Gowers’ sign, American Academy Of Orthotists and Prosthetists.
12. Örndahl, Gustav, Ulla Sellden, Sverker Hallin, Hakon Wetterqvist, Anders Rindby, and Eva Selin. “Myotonic dystrophy treated with selenium and vitamin E.” Acta Medica Scandinavica 219, no. 4 (1986): 407-414.
13. Chaturvedi, Ashutosh, Prasanna N. Rao, U. Shailaja, and M. Ashvini Kumar. “Role of Panchakarma in Duchenne Muscular Dystrophy.” International Journal of Research in Ayurveda & Pharmacy 4, no. 2 (2013).
14. Telles, Shirley, Acharya Balkrishna, and Kanchan Maharana. “Effect of yoga and ayurveda on duchenne muscular dystrophy.” Indian journal of palliative care 17, no. 2 (2011): 169.
15. Duchenne Muscular Dystrophy (DMD), Muscular Dystrophy Association.

Disclaimer: The content is purely informative and educational in nature and should not be construed as medical advice. Please use the content only in consultation with an appropriate certified medical or healthcare professional.