Myotonic dystrophy: symptoms, causes and remedies

Definition of myotonic dystrophy

Myotonic dystrophy or myotonic dystrophy is a type of muscular dystrophy that can attack muscles and various organs in the body. This condition can cause the muscles to get weaker over time.

This condition also causes the muscles to be unable to relax, so that the patient experiences muscle contractions that are long enough and unable to relax the muscles.

For example, the patient will find it difficult to release the grip of the hand from the doorknob. In fact, under certain conditions, this disease can affect the lip muscles, causing difficulty speaking or difficulty opening the mouth.

In addition, this condition is also characterized by symptoms of an abnormal heartbeat. The reason is, myotonic dystrophy can also attack the muscles in the heart.

There are also other symptoms that are not related to muscles, such as difficulty understanding things, drowsiness during the day, infertility, and cataracts at productive age.

How common is myotonic dystrophy?

Compared to other types of muscular dystrophy, myotonic dystrophy is the most common. In addition, this condition is more susceptible to attacking the adult age group.

Signs & symptoms of myotonic dystrophy

The most striking symptom of myotonic dystrophy is muscle weakness that gets worse over time.

Common symptoms of myotonic dystrophics

Common muscle weakness usually starts in the following parts of the body:

• Facial and neck muscles so that the patient has difficulty forming a smile, "drooping" eyelids, and difficulty chewing food.
• The muscles of the fingers, hands and arms that make it difficult for the patient to grasp things.
• Muscles in the calves and soles of the feet.

If this condition is not resolved immediately, this weakness can spread to muscle areas in other parts of the body such as muscles in the thighs or muscles in the respiratory organs.

Less common symptoms

In addition, there are other symptoms that may appear as markers of myotonic dystrophy, such as:

• Shrinked muscle volume and size.
• Disorders of the digestive muscles, causing the patient to choke or the food and drinks consumed actually enter the respiratory tract, constipation, diarrhea, and kidney stones.
• Not being able to breathe properly especially when you are sleeping.
• Heart rhythm disturbances (arrhythmias) and cardiomyopathy.
• Cataract.
• Cognitive disorders.
• Often sleepy during the day.
• Hormonal disorders such as hypothyroidism, insulin resistance, diabetes, or hypogonadism that cause male infertility.

Meanwhile, this condition can also attack the uterus, causing women who experience this condition to undergo special care if they are pregnant.

Causes of myotonic dystrophy

This condition is divided into two types, namely myotonic dystrophy type 1 and 2.

Myotonic type 1 dystrophy, also known as Steinert's disease, occurs when a gene on chromosome 19 called DMPK has an abnormally expanded section located close to the regulatory area of ​​another gene, SIX5.

Meanwhile, type 2 myotonic dystrophy is a milder type than type 1. This condition is caused by an abnormally expanding part of the chromosome 3 gene called ZNF9.

Diagnosis of myotonic dystrophy

Usually, the diagnosis for this condition is made based on medical history, starting from family medical history, physical examination, and other examinations that may be needed.

Some of the tests that may be performed for further diagnosis include muscle biopsy, blood tests, and electrodiagnostic examinations.

Muscle biopsy

A muscle biopsy is usually performed to determine weakness in the muscles, whether caused by muscular dystrophy or other diseases that cause muscle degeneration, such as exposure to toxic substances or inflammation.

Blood test

This condition is only truly recognized as myotonic dystrophy after a blood test. The reason is, in this examination the doctor or laboratory officer can determine the type of myotonic dystrophy being experienced.

After undergoing various examinations, the doctor or medical professional will examine each patient's data relating to the results of the examination.

Then, the doctor or medical professional will determine whether the patient's condition allows for gene testing.

Treatment of myotonic dystrophy

The information below cannot be used as a substitute for a medical consultation. ALWAYS consult your doctor for information about medications.

Until now this condition is still incurable, but patients must undergo special treatment if they want to relieve the symptoms they are experiencing.

In addition, if the patient has symptoms of myotonia, or the inability to relax the muscles, the doctor will give the drug mexiletine. This medication is used to relieve symptoms.

Medical expert assistance

Myotonic dystrophy patients can still carry out their daily activities as usual if they undergo intensive care with medical professionals.

Primarily, this condition will be handled by a neurologist to determine the various needs for each patient based on the condition. In addition to neurologists, myotonic dystrophy conditions may also be treated by various therapists to help the patient's rehabilitation process.

The doctor may perform further tests using an EKG to see the rhythm and function of the heart. Not only that, the doctor may also perform tests on lung function.

According to John Hopkins Medicine, experts will accompany the patient as well as provide individual training to the patient to overcome any weakness in the muscles that may be experienced.

Not only that, the experts will evaluate each patient. The goal is to determine whether the patient needs medical aids to make it easier to move the hands or feet.

Therefore, if you experience symptoms of this condition, consult your doctor immediately to get the best treatment according to your needs.