Muscular Dystrophy: Symptoms, Causes, Diagnosis, and Treatment

Muscles are made of a kind of elastic tissues and they permit movement of your body. They maintain body posture and circulate blood throughout your body. Moreover, they enable your inner organs to function properly. However, sometimes, these muscles go weaker and become less flexible by Muscular dystrophy disorder. A lack of a protein (dystrophin) is the main cause of this disease. In this article, you will get useful and interesting information on causes, symptoms, diagnosis, and treatment of muscular dystrophy. But, first have a look at, what is it, and how it affects your body functioning?

A muscular dystrophy is a group of diseases. It causes gradual weakness and the failure of muscle mass. It is initiated by some genes that control your body to keep muscles healthy. Sometimes this disease starts in early childhood. However, some people don’t have any symptoms until their teenage or middle-age. When and how this disorder influences you or your child depends on its type. Most people will have worse effects over time. While some may lose the ability to walk, speak, or even care for them. But, it doesn’t occur to everyone. Some people can live for several years with mild symptoms. Now, let’s focus on the topic in a more elaborative way.

Types of Muscular Dystrophy

There are more than 30 types of this disease. These types may vary on the basis of:

The genes that source it
The muscles that are effected
The age when primary symptoms appear
How fast it gets worse

Most people typically get one of nine major types of the disease:

Duchenne muscular dystrophy (DMD)
This is the most common form of muscular dystrophy. Though girls can get this disease, mostly they are carriers for it. It mainly attacks boys and may start from age 3-5. In the past, patients with this condition did not typically survive beyond the 20s, but advanced treatment brought progress in it. Now, the average life expectancy with Duchenne is about 27 years. It may improve in the future, as treatment progresses.
Becker muscular dystrophy
Becker dystrophy is milder than Duchenne. It also influences boys but the symptoms start later. This disorder may appear between the ages of 11-25.
Myotonic
Myotonic is an inability to relax muscles after contraction. First of all, it usually affects facial and neck muscles. So, people experiencing this, generally have long, thin faces; baggy eyelids; and long necks.
Facioscapulohumeral (FSHD)
It typically starts from the face, hips, and shoulders. The shoulder blades look like wings when arms are uplifted. It usually appears in the teenage. But, it can also begin in childhood or old age.
Congenital
This disorder affects both boys and girls and may appear at birth or before age-2. Sometimes it may progress slowly and causes only mild disability. While a few times it starts rapidly and causes severe harms.
Limb-girdle
It usually affects hip and shoulder muscles. You may face difficulty in lifting the front part of your foot. Typically, it starts in childhood or the teenage years.
Distal dystrophy
It may disturb your arms, legs, hands, and feet muscles. It appears later in life, between ages 40-60.
Oculopharyngeal
This dystrophy causes weakness in the face, neck, shoulders, and eyelids. It also causes difficulty in swallowing (dysphagia) and may start in the 40s or 50s
Emery-Dreifuss
It appears mainly in boys, usually at the age of 10. You may have heart problems along with muscle weakness with this disorder.

There are many causes and symptoms of muscular dystrophy. But, important is that you should know and understand them properly to minimize its effects.

Causes of Muscular Dystrophy

Muscular dystrophy can run in your family. However, it may make the first entry into your family. But, it is rare for anyone to get it this way. The disease is mostly caused by genetic defects in your family. Thus, mutations (alterations) in your genes are responsible for it. Genes contain the information your cells need to make proteins. These proteins control all of the different functions of your body. When a gene faces mutation, your cells start making the wrong or damaged protein.

Therefore, mostly one or both of your parents transfer a muted gene of this disease. Thus, you may receive these defective genes. So, keeping the prior discussion in mind, the possible causes of muscular dystrophy are:

recessive inherited disorder
dominantly inherited disorder
sex-linked (X-linked) disorder
Spontaneous gene mutation disorder (a new event in the family)

So, after knowing the causes of muscular dystrophy, for diagnosis, your doctor will move towards its symptoms.

Symptoms of Muscular Dystrophy

Most of the muscular dystrophy symptoms start in childhood or in the teenage. So, anyone with the disorder may often experience:

Falling
walking on toes
Weak muscles and muscular pain(cramps)
Trouble in getting up, running, or jumping
A curved spine
Have Droopy eyelids
Cardiac problem
The problem in eating or swallowing
Acute breathing problem
Eyesight issue
Weakness in facial muscles
Learning disabilities

Diagnosis of Muscular Dystrophy

Once the symptoms are identified, then different methods are used for diagnoses of muscular dystrophy. The genetic mutations involved in muscular dystrophy can be used to make a diagnosis.

Enzyme assay: Broken muscles produce creatine kinase (CK is an enzyme). Increased levels of CK can initiate this disorder if there is no other cause of muscle damage.
Genetic testing: This type of test is carried out when a genetic mutation occurs.
Electrocardiography and echocardiograms test: These tests can detect changes in the heart muscles. Particularly, it may help in the diagnosis of myotonic muscular dystrophy.
Lung monitoring: Proper monitoring of your lungs may give additional evidence for it.
Electromyography: Your doctor inserts a thin needle into your muscle to measure the electrical activity. The results can show symptoms of muscular dystrophy.
Biopsy test: In this process, a portion of your muscle is removed and thus, examined under a microscope. It can be a tell-tale sign of this disorder.

Besides this, your doctor can also advise a blood test to rule out the problematic genes. Genetic tests can help diagnose the disease. But, they’re also important for those who are planning to start a family and contain a family history of this disorder. You can discuss with your doctor to find out what will be the impact of this result on your children.

Several treatments can keep your muscles strong and flexible. But, scientists are looking for new ones, too. The important thing is to get the proper treatment and find support.

Treatment of Muscular Dystrophy

Treatment options include medications, therapy, and surgical procedures. Keen monitoring of walking, eating, breathing, swallowing, and hand function enable your doctor to adjust treatment. Monitoring also helps to adjust your medicine dose, as the disease progresses. Now let’s have a look at muscular dystrophy treatment.

Medications

Your doctor might suggest one of the following medication:

Corticosteroids, like prednisone and deflazacort (Emflaza), help muscle strength and slow the progression of this dystrophy. But prolonged use can cause obesity and weakening of bones.
Eteplirsen (Exondys 51) and golodirsen (Vyondys 53) are approved by the FDA (food and drug authority) to treat Duchenne dystrophy.
Angiotensin-converting enzyme (ACE) inhibitors or beta-blockers are given if the disorder damages your heart.

Therapy

Several types of therapies can improve the quality and the length of life in people who have this disorder. Some of them are:

General Exercise. Aerobic exercises like walking and swimming, are useful to strengthen mobility and general health. But, it’s important to do exercise with the consultation of your doctor.
Range-of-motion and stretching exercises: These exercises are useful to keep joints flexible and relaxed.
It keeps muscles and tendons stretched and elastic, thus slowing the chain of contractures.
Supports for mobility. Walkers and wheelchairs help in mobility and movement.
Breathing assistance. As respiratory muscles weaken, some people with acute muscular dystrophy may need to use a machine (ventilator).

Surgery

Surgery is needed to make contractures functional. It may also carry out for a spinal curvature that otherwise can make breathing more difficult. Heart problems may be sorted out by a pacemaker or some other cardiac device.

There’s no cure for this disease. But, many treatments can lessen the effects of muscular dystrophy and make life easier for you. However, your doctor will prescribe a treatment based on the type of muscular dystrophy you or your child have.

Current research for Treatment of Muscular Dystrophy

A great deal is done for mechanisms both in muscular and genetic treatment. Although a full cure looks some distance away, there are ways of research that seems ever closer to one. They are:

Gene replacement therapy
Altering protein production
Drugs to delay muscle wasting
Insertion of Stem cell
Myoblast transplantation (repairs and replaces of faulty muscle fibres)

When to See a Doctor

If you or your child feels muscle weakness like falling, trouble in movement, or any heart problem, then it’s time to consult your doctor for appropriate testing and diagnosis.

Conclusion

The causes, symptoms, diagnosis, and treatment of muscular dystrophy are already discussed in this article. Finally, after specific details and supportive information in the main article, here are some conclusive points about muscular dystrophy.

It is a collection of muscle-wasting forms. Also, a person with muscular dystrophy may require lifelong assistance. Infect, a lack of dystrophin protein is the main cause of this disease. Moreover, among other types, Duchenne dystrophy is the most common. It can lead to life-threatening complications. Though gene therapies are being applied to combat the disease, but there is currently no cure for this order.