Muscular Dystrophy: Symptoms, Causes & Treatment

What is Muscular Dystrophy?

Muscular dystrophy is a complex blend of 30 skeletal muscle diseases. These 30 genetic diseases are inherited as opposed to contracted from outside sources. A mutation of the section of genetic code tasked with the creation and maintenance of muscle tissue is the cause of muscular dystrophy. In the overwhelming majority of instances, the mutation is inherited from one or both parents. There is a small percentage of MD cases that occur at conception spontaneously, even if neither parent carries the genetic marker.

There are nine types of muscular dystrophy. However, the most common is Duchenne muscular dystrophy. This form results from a gene mutation that causes a reduced amount of dystrophin to be produced in the body. This lacking prevents cell stability in the muscles of the body. This form of MD develops during childhood and generally progress towards its fatal conclusion by the time the person reaches their late 20s.

All forms of muscular dystrophy have progressive muscular deterioration as an indicator, though each type varies in their symptoms and age of onset. Parents who note challenges with learning to walk, stand or run may have cause to suspect that their child has MD or other diseases related to the muscular system. Some forms of MD can also cause a degradation of the respiratory and heart muscles.

Becker muscular dystrophy usually manifests once a child has reached the age of 10, and while it’s similar to Duchenne MD, the symptoms are not as dire. Myotonic and Facioscapulohumeral muscular dystrophy manifest once puberty has passed, as well as in early adulthood. The mutation that causes muscular dystrophy is located along the X chromosome, and since boys only have one, it is not possible for the body to compensate for the mutation. This is the main reason that MD affects boys more than girls.

Symptoms & Forms of Muscular Dystrophy

Muscular dystrophy is mainly characterized by a wasting away of the muscle tissue in the body as well as the breakdown of nerve tissue in certain areas. The main sign of all forms of muscular dystrophy is the steady progression of muscle weakness. There are nine main forms of MD. Depending on the type of MD, there may be additional symptoms that present at various ages. Some common symptoms found in all forms are:

• Increasing disability
• Muscle weakness
• Loss of strength
• Pain and stiffness

Along with the general symptoms of MD, there are also type-specific symptoms.

Oculopharyngeal Muscular Dystrophy

Oculopharyngeal MD usually appears between the ages of 40 and 70. Symptoms specific to this form are:

• A weakening of throat muscles
• A weakening of eyelid muscles

Due to how the disease affects the throat over time, patients may lose the ability to swallow on their own. This further causes a secondary condition of emaciation due to the inability to maintain proper eating habits. This form progresses slowly.

Myotonic Muscular Dystrophy

Myotonic MD usually appears between the ages of 20 and 40. Symptoms specific to this form are:

• A weakening of all muscle groups
• Delayed post contraction muscle relaxation

This form progresses very slowly, often over the course of more than 50 years.

Limb-Girdle Muscular Dystrophy

Limb-Girdle MD usually appears during late childhood to middle age years. Symptoms specific to this form are:

• A weakness of the shoulder girdle
• A weakness of the pelvic girdle
• Wasting

Patients suffering from this form of MD tend to expire due to cardiopulmonary complications. This form progresses slowly.

Facioscapulohumeral Muscular Dystrophy

Facioscapulohumeral MD develops starting from childhood until the early adult years. Symptoms specific to this form are:

• Facial muscle weakness
• Shoulder weakness
• Wasting of the upper arms and shoulders

This form progresses slowly but has periods of rapid deterioration.

Emery-Dreifuss Muscular Dystrophy

Emery-Dreifuss MD usually appears during childhood to the early teen years. Symptoms specific to this form are:

• Weakness in the upper arms, shoulder and shin muscles
• Joint deformities
• Wasting of the shin, upper arms and shoulders

This form progresses slowly, however, an increase in chances of sudden death is possible. Sudden death is a result of cardiac problems from Emery-Dreifuss MD.

Distal Muscular Dystrophy

Distal MD usually appears between the ages of 40 and 60. Symptoms specific to this form are:

• A weakness of the lower leg, hands and forearm muscles
• Wasting of the hands, lower leg and forearms

This form progresses slowly and doesn’t often lead to disability or becoming incapacitated.

Becker Muscular Dystrophy

Becker MD usually appears during adolescence or early adulthood and is almost solely restricted to the male population. Symptoms specific to this form are:

• General muscle weakness of all voluntary muscles
• Wasting of the pelvis, upper legs and upper arms
• Delayed post contraction muscle relaxation

This form progresses at a steady pace over the course of the patient’s life. Those suffering from Becker MD do not often live past the age of 30.

Congenital Muscular Dystrophy

Congenital MD only presents at birth. Symptoms specific to this form are:

• General muscle weakness
• Joint deformities

This form progresses slowly, and the life span of those afflicted with this form is very short.

Duchenne Muscular Dystrophy

Duchenne MD usually appears between the ages of two and six. Symptoms specific to this form are:

• General muscle weakness of all voluntary muscles
• Wasting of the pelvis, upper legs and upper arms
• Delayed post contraction muscle relaxation

This form progresses at a steady pace over the course of the patient’s life. Those suffering from Duchenne MD do not often live past the age of 20. This form is limited to males, but the rare female who develops Duchenne MD tends to have a milder form and can survive till middle age.

Causes of Muscular Dystrophy

Muscular dystrophy of all forms occurs due to a mutation on the X chromosome. There are 9 types of MD, and each type is caused by a different mutation. Although the mutations are different, each stops the production of dystrophin in the body. When the body doesn’t produce dystrophin, it isn’t able to repair or build muscle, which will lead to progressive muscle atrophy over time.

Dystrophin is an important protein because it helps the muscles in your body perform properly. It also helps the cells in the muscle link to other components and the outer membrane. When this process is disrupted, it results in a slow but steady death of the muscles in the body.

Genetic Factors

Muscular dystrophy typically runs in families. The mutation usually only develops into MD in males, but it can be passed on by both parents. This group of inherited diseases that lead to muscle atrophy and progressive disability may not develop in every generation even if the gene is passed on. A person can inherit MD from a single parent or both parents. It will be passed on as a dominantly inherited disorder, a recessive inherited disorder or a sex-linked disorder. In rare cases, it can occur at birth as a spontaneous mutation.

Those who inherit the gene from only one parent, their inherited gene is recessive. While they will not develop MD, they are a carrier and will pass on the gene to their children. Those who inherit the gene from both parents, there is a 25 percent chance of:

• Developing muscular dystrophy
• Carrying only the father’s faulty gene while remaining unaffected
• Being born without either faulty gene
• Carrying only the mother’s faulty gene while remaining unaffected

Spontaneous gene mutations at birth that result in the development of muscular dystrophy can occur even if neither parent were carriers. This is rare and there is no way to ascertain the cause or predict the occurrence MD in these cases.

Living With Muscular Dystrophy

Muscular dystrophy generally affects males, though it can occur in females on rare occasions. Living with muscular dystrophy is difficult regardless of sex, and the type of MD you have determines your estimated life span. Some forms of MD turn fatal within a decade while others may take more than 50 years before the effects lead to death. There is no way to prevent MD, but you can lower the chances of passing it on to your children by screening both parents for the faulty gene prior to conception.

Although MD affects the muscles, most cases are referred to a neurologist for treatment and condition management. Muscular dystrophy in newborns is treated by senior pediatricians often with a neurologist as a consult.

Although there is no cure for the disease, there are many treatments available to help manage the symptoms and improve the quality of life of the patient. Muscular dystrophy progression in all forms of the disease follows a predictable path. This allows the specialist to create unique therapies to ease suffering and allow patients to remain mobile as long as possible. Research on innovative treatments and a cure for MD are ongoing. Gene replacement therapy research seeks to replace the missing protein, while genetic modification research seeks a way to repair the mutation. In addition, there is always constant research on new medications that can be used in the fight against muscular dystrophy.

Muscular Dystrophy Remedies and Supplements

Although there is no cure for muscular dystrophy, there are medications that may help slow the progress of the disease. There are also several therapies that can help keep those who suffer from MD mobile for as long as possible. Prescription muscular dystrophy treatment options are usually a combination of two types of drugs.

• Heart medications such as angiotensin-converting enzyme inhibitors and beta blockers are prescribed once the MD has progressed to affect the heart.
• Corticosteroids are prescribed to help give the muscles a boost in strength, as well as slow the deterioration that the diseases cause. The downside to this medication is that it causes weak bones and weight gain over time.
• Eteplirsen (Exondys 51) has been FDA approved as a treatment for Duchenne muscular dystrophy as of 2016. Studies show that helps to improve muscle strength but it is not a cure for the disease.

There is no successful treatment of muscular dystrophy that will reverse the course of the disease, but physical therapy can help ease the symptoms. Maintaining mobility and movement is one of the main challenges faced by those suffering from MD. Working with a physical therapist will help ease pain, reduce the rapid loss of muscle mass and improve range of motion. Other methods include:

• Braces will help keep the tendons and muscles stretched to help reduce the speed of atrophy. They also provide an extra level of support while walking or moving.
• General exercises that include stretching and range of motion drills will help fight against inevitable muscle shrinkage. As muscles shrink, the limbs will try to stay in a fixed position. Regular exercises, swimming, walking and other motion-based movements will help slow the disease’s progression.
• As MD progresses, some patients may find that they have trouble breathing. In these instances, external breathing devices may be required. Extreme or end of life cases may require a person to be hospitalized and placed on a ventilator.

Supplements for Muscular Dystrophy

Acetyl L-Carnitine (ALCAR) Capsules

Acetyl L-carnitine (ALCAR) capsules are a powerful tool in the fight against MD. Acetyl L-carnitine has been proven to help protect muscle activity and is a powerful antioxidant. The supplement also helps to battle oxidative stress, which can contribute to the progression of the disease. If you are taking blood thinners, it’s important to speak with your doctor since acetyl L-carnitine increases their effect. Patients with a history of seizures should not take acetyl L-carnitine. The recommended dosage is a 600 mg capsule 1-3 times daily depending on your desired effect.

Ascorbic Acid Powder

Although MD is genetic, a lack of proper nutrition can exacerbate the symptoms of the disease. Most adults are vitamin C deficient, which can lead to the atrophy of muscles and increase the progression of the disease. Ascorbic acid Powder and vitamin C powder supplements are a good way to prevent oxidative stress and to give the cells of the muscles a boost of essential nutrients. Vitamin C can help build muscle, though in MD patients it helps to slow the deterioration caused by the disease. The recommended dosage is 1,000 mg per day maximum.

BCAA (Branched Chain Amino Acids) Powder

Branched-chain amino acids encourage your body to synthesize protein. They also prevent the degradation of protein in the body with no ill side effects. For MD patients, the muscles are lacking the essentials they need to function, making BCAA (branched chain amino acids) powder an effective tool to boost muscle efficiency. They help to prevent muscle breakdown, which in turn will slow the progress of the disease. The recommended dosage is three capsules per serving, three times daily (9 capsules). The supplement should be taken half an hour before or after physical activity.

The Bottom Line

Muscular dystrophy is a group of diseases caused by a genetic defect that leads to muscle weakness in the body that gets worse over time. Muscular atrophy is also a group of diseases, but they are responsible for causing spinal nerve and muscles to waste away. While similar, they are different ailments that have different treatments and affect a separate group of people.

It’s possible that one out of every 3,500 male births results in muscular dystrophy worldwide. Unlike other conditions that are caused by environmental factors, muscular dystrophy is genetic and passed down through families. As MD progresses, moving normally becomes much more difficult. For some patients, breathing can become labored and the heart may cease functioning properly. Certain forms of MD may cause life-threatening complications over time. MD symptoms can remain mild or progress towards disability, and in some cases, it can lead to death. There is no way to cure muscular dystrophy, but there are treatments, supplements and therapies that can provide a better quality of life for those suffering from MD.

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Created on Mar 1st 2020 12:32. Viewed 360 times.

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