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Muscular Dystrophy Treatment – 2020 Therapy & Medications

People are always proud of the idea that we are the smartest and most advanced species of all animals on planet earth. We can stand up. We can hold our fingers.

Numerous inventions and discoveries throughout history have confirmed our innovations. However, nothing is perfect, sometimes a failure occurs within our structures which leads to many side effects to our body.

Statistics from the World Health Organization[1] show that an estimated 50% of the world’s population suffers from musculoskeletal problems in one form or another. While 50% of others experience muscle cramps.

In this article, we provide a detailed picture of what is muscular dystrophy, symptoms, types, and available treatments.  

What Is Muscular Dystrophy

Muscular dystrophy is not as common as other diseases such as cancer. It is a group of inherited diseases that destroy and weaken your muscles from time to time.

One study showed that approximately 90%[2] of musculoskeletal dystrophy was caused by a form of genetic mutation. Due to a lack of a protein called dystrophin that is necessary for normal muscle function, muscular dystrophy makes our muscles weak and damages it.

Most of the time diagnosis of Muscular dystrophy is made in childhood but can occur at any age especially in young children. 

According to a United States statistic in 2007[3] 1.3 to 1.8 or 15 out of 100,000 males between the ages of 5 and 24, were diagnosed with some form of muscular dystrophy.

Typically, this condition is a cluster group of diseases that seriously affect our muscles making them weaker and less flexible.

Depending on the type and severity, results may be mild, progress slowly in normal life, have a moderate degree of disability, or can be fatal.

Symptoms of Muscular Dystrophy

Muscle weakness is a major symptom of muscular dystrophy. It varies greatly between the different types of muscular dystrophy.

Symptoms can occur anywhere between birth and middle age depending on the type of muscular dystrophy. In young children, muscular weakness may be perceived as the child’s sluggishness.

In older infants and young children, weakness may appear due to the child’s delay in motor stages. This means a delay in learning to look up, sit, crawl, or walk.

Different types of muscular dystrophy affect muscle areas known as muscle groups in the body.

The muscle weakness itself can be mild, moderate, or severe. The different types of muscular dystrophy differ depending on how quickly the weakness progresses.

Sometimes there can be other symptoms besides muscle weakness[4]. Include the following: 

Pain

Since the disease also affects the skeletal muscles, any movement causes pain.

In addition, due to the lack of dystrophin which provides tensile strength to the muscles, they cannot contract and relax.

Respiratory Depression

Breathing is a process carried out by muscle coordination. Therefore if the muscles cannot contract and relax due to lack of stretching, it can lead to respiratory depression.

Heart Problems

This is the most serious symptom as the disease also affects heart function and muscles.

Muscle Spasm

A patient with this condition suffers also from muscle spasms.

Muscle Wasting

Since there is no physical activity due to mild to moderate pain, there is a loss of muscle size.

Scoliosis

Curvature of the spine is also one of the main symptoms.

Walking Difficulties

Due to weakness and muscle denegation, patients either unable to walk or having difficulty walking.

Types of Muscular Dystrophy

Based on categories such as age sufferers when the first symptoms appear, affected muscles, and genes that cause the disease, or how quickly it may get worse.

Muscular dystrophies can be classified into 30 types or nine majors forms listed below:

Duchenne muscular dystrophy (DMD) 

This is the most common and severe form of muscular and congenital dystrophy. The lack of protein involved in maintaining muscle integrity called dystrophin which actively damages the muscle cells.

The onset of people with Duchenne occurs between 3 and 5 years of age. The danger of Duchenne dystrophy is that it progresses very quickly. It mainly affects boys, although girls can be mildly affected.

People with Duchenne affect approximately[5] 1 in every 3,600 males born, and about 2 per 1000 in the United States affect children in all ethnic backgrounds.

muscular dystrophy treatment

Becker muscular dystrophy

Becker muscular dystrophy is similar in many ways to duchenne muscular dystrophy but it is less serious. It usually appears between the ages of 2 and 16 but can appear up to the age of 25.

Due to dystrophin gene deficiency, its severity is unpredictable. Some individuals may require the assistance of wheelchairs in adulthood, while others may need a minor assistive device such as a cane to helm walk.

Becker dystrophy affects only men 1 in 30,000 and can cause heart problems 60% to 75%[6]. Some patients have a form of the illness that falls between Duchenne and Becker.

Myotonic dystrophy

Myotonic dystrophy is typically diagnosed most commonly in adults. The disease affects both men and women and usually occurs in the early stages of adulthood.

It is also classified as DM1 and DM2. The prevalence[7] is estimated at 1 in 8,000 newborns and its overall prevalence ranges from 2.1 to 14.3 per 100,00 population.

It is characterized by an inability to relax a muscle after contraction and some gastrointestinal problems, commonly diarrhea and constipation. It can also lead to life-threatening conditions such as endocrine disruptions, thyroid problems, and diabetes.

Congenital muscular dystrophy

This kind of dystrophy is purely genetic and already present at birth. Children with congenital muscular dystrophy can develop joint problems, breathing and swallowing difficulties, and seizures. The central nervous system can also be affected causing problems with vision or speech.

This type of dystrophy is rare due to a lack of genetic diagnosis. A study showed the prevalence[8] of 0.89 per 100,000 groups of congenital dystrophy affects only 2 per 3 million people.

There are distinct types of Congenital muscular dystrophy which vary from each individual in terms of severity, whether they got worse or not.

Limb-girdle muscular dystrophy

Limb-girdle muscular dystrophy generally affects the muscular tissues of the shoulders, thighs, hands, and shoulders. This variant begins in childhood or adolescence.

Affecting people of all ages, the prevalence of all forms of Limb-girdle muscular dystrophy ranges[9] from 1 in 14,500 to 1 in 123,000 people.

This type of muscular dystrophy has more than 20 different types. Certain types of Limb-girdle muscular dystrophy can cause irregular heartbeat or weakness in the heartbeat, breathing muscles, and weight gain.

Facioscapulohumeral muscular dystrophy

Facioscapulohumeral muscular dystrophy is the third most common inherited form of this disease. Generally, it begins in adolescence or early adulthood and affects both men and women. It affects approximately[10] 1 in 15,000 and 21,000 people in the United States.

FPD primarily affects the muscle tissues of the forearms, shoulders, and face. People with FPD will have difficulty making eye movements, smiling, speaking, swallowing, or even breathing.

This condition typically occurs in men and women under the age of 20, but it can develop by the age of 40 with about 20 percent of people eventually need a wheelchair.

Oculopharyngeal muscular dystrophy

This sort of muscular dystrophy mainly affects muscle groups such as the eyelids, throat, and face. Additionally, it can also cause dysphagia and impaired eyesight.

This type typically appears in both genders. Typical OPMD affects approximately 90% to 95%[11] of people before 48 years of age, the onset of ptosis, and dysphagia at 50 years.

While severe forms of OPMD affect approximately 5% to 10% of  individuals, and  is characterized by the development of ptosis and dysphagia before the age of 45 years and disabling weakness of the proximal legs that begins before the age of 60,

Distal muscular dystrophy

This group of rare diseases affects both adult men and women. It begins in adulthood and people between the ages of 40 and 60.

Due to slow progression, it is considered mild muscular dystrophy. Distal dystrophy[12] results also from defects in the dysferlin protein that negatively affects the fee, forearms, and legs.

Emery-Dreifuss muscular dystrophy

Emery Dreyfus muscular dystrophy is a group of illnesses that primarily affects adolescents and young men, although women may also be affected.

The occurrence of DM is quite common with a prevalence ranging[13] from 19.8 to 25.1 per 100,000 people per year and an incidence of 1 per 100,000 per world population.

It affects the muscles in the shoulder making it difficult to lift heavy objects. Besides, the muscles in the legs are affected which can cause stumbling when walking, tension contractures in muscles and joints can also occur.

Treatments for Muscular Dystrophy

muscular dystrophy treatment

Certain available treatments for muscular dystrophy may help control and reduce the severity of symptoms. Several medications and therapies can help it or control slow the progression of the disease.

Here is an overview of some common treatments that can help:

Medications

Corticosteroids[14], such as deflazacort (Emflaza) and prednisone can help types of muscular dystrophy to improve muscle strength and delay the progression. 

Eteplirsen (Exondys 51)[15], the first drug approved in 2016 by the Food and Drug Administration (FDA) to specifically support some patients with Duchenne Muscular Dystrophy.

Golodirsen (Vyondys 53)[16].  These drugs were approved by the FDA year 2019 to treat patients who have certain genetic mutations with Duchenne Muscular Dystrophy.

Heart medications[17], such as angiotensin-converting enzyme ace or converting enzyme ace inhibitors, and beta-blockers, if the damage to the heart function and muscle.

Therapy

Physical therapy, occupational therapy, speech, and respiratory therapies can help keep their range of motion, mobility, muscle strength, activities of daily life, speech and communication, swallowing, and lung function. In addition, some therapists may recommend the use of devices or may need walkers, canes, and support weakened muscles.

Surgery

Surgery may help correct contractures or curvature of the spine that could make breathing more difficult. Pacemakers or other devices may be used to improve the function of the heart.

New approach to cure muscular dystrophy

Researchers at the School of Pharmacy and Pharmaceutical Sciences have now found a way to deliver a chemical that bypasses the faulty enzyme and restores the production of sialic acid in the body. This, in turn, increases the amount of protein required for efficient muscle function and development.

A team project started in March 2018, led by Dr. Fabrizio Pertusati and Dr. Michaela Serpi. Dr. Pertusati said, it looks like a van is trying to deliver food to its destination, but it’s stuck in a traffic jam.

If you find a new way around the bottleneck, the food will be delivered normally.

By administering our compound, sialic acid synthesis can be redirected through the cellular apparatus and its normal function will be restored.

The team hopes that the study results, published in the Journal of Medicinal Chemistry, lead to the development and testing of effective drugs to combat this disease.

First, scientists need to improve the chemical properties of the compound to make it more water-soluble so it can be administered orally. They will therefore have to conduct tests on animal models and then clinical trials on humans.

We are in the early stages of this study, but it is interesting to consider developing and testing a new drug to reduce the symptoms, severity, and progression of muscle weakness and wasting so that patients can benefit from greater mobility, and a better quality of life, said Dr. Pertusati.

Conclusion 

A muscular dystrophy is a form of the disease that causes lesions and weakening of the muscles of the body. There are over 30 types of muscular dystrophy, 9 of which are primary. Some of them attack just after birth and childhood, while others attack from adolescence to adulthood.

Ways to treat all types of muscular dystrophy are mainly supportive. Although all types of muscular dystrophy are permanent, muscular dystrophy is not necessarily fatal. Many people with less serious types of diseases live normal life expectancy with relative independence.

Development of symptoms may vary in each individual, it may be slow or progress rapidly. Many of these common types of muscular dystrophy can result in breathing and heart problems that can be life-threatening to some people.

Frequently Asked Questions

What are the most common types of muscular dystrophy in children and adults?

The two most common types are Duchenne MD MD (DMD) and Becker MD (BMD)

What are the symptoms and signs of having this disease?

Some of MD symptoms are having progressive muscle atrophy and weakness, pain, respiratory depression, muscle wasting, walking difficulties, and scoliosis.

What complications can result from this disease?

The complications that can arise from this disease shorten the life of the person, usually by affecting the muscles, heart, and breathing.

What is the prognosis once you have it?

People with DMD (the most common type of muscular dystrophy) usually die of respiratory failure before they reach 40 years.

How can this disease be avoided?

Unfortunately, since muscular dystrophy is a genetic disease, it cannot be avoided. If your family has a history of muscular dystrophy, a check by a doctor can be useful for early diagnosis and early treatment. These genetic tests can be done on adults and children. When muscular dystrophy is diagnosed, treatment can help reduce symptoms and slow growth in the disease.

What is the biomarker for Duchenne muscular dystrophy?

The primary biomarker test currently used for Duchenne muscular dystrophy is to test for the presence of a creatine kinase enzyme activity (CK) in the serum by measuring the fluorescence of the enzyme activity in the blood, followed by confirmation with a muscle biopsy or genetic testing to identify mutations of dystrophin, for example.

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