Understanding Myotonic Dystrophy Type 1 (DM1): Symptoms, Causes, and Testing

Myotonic Dystrophy is a genetic disorder characterized by progressive muscle weakness and myotonia. Myotonic Dystrophy may also affect the cardiovascular, endocrine, and central nervous systems, lungs, and eyes. There are two primary forms of Myotic Dystrophy(DM) - DM1 or Steinert disease and DM2 or proximal myotonic myopathy. The symptoms and causes of both forms overlap, but DM1 is more acute than DM2. Myotic Dystrophy is one of the most common forms of muscle dystrophy that begins in adulthood (certain types begin in infancy), and the lack of any permanent cure makes the DM1 test even more important to verify its presence as early treatment of improving the quality of life is vital for the health condition of the affected patient.

Symptoms of Myotonic Dystrophy Type 1

The three chief myotonic dystrophy symptoms that affect patients' bodies are-

• Muscle atrophy (wasting),

• Muscle weakness, and 

• Myotonia 

Myotonia is a form of prolonged muscle weakness, which means an inability to relax muscles according to will. Therefore, you should get a DM1 test now if you have difficulty letting your hand go after grabbing a door handle. 

Causes of Myotonic Dystrophy Type 1

An abnormal amount of DMPK protein, aka dystrophia myotonica protein kinase's production, in the Chromosome 19 leads to causing the hallmark symptoms of Myotonic dystrophy type 1. In other words, a segment of DNA due to mutations repeats abnormally, severely affecting the production of many proteins in cells, causing the disorder. This genetic disorder affects 1 in 8000 people, and statistics prove that people of European ancestry were the most common group to have suffered from myotonic dystrophy symptoms. 

Types of Myotonic Dystrophy Type 1

Myotonic dystrophy type 1 has four categories-

Classic- 

Classic Myotonic dystrophy type 1 begins in adulthood, and myotonia is the initial symptom that one usually notices. It causes muscles in your muscles to stiffen up, hampering the movement of expressions, and weakness of the muscles distant from the center of the body generates an impaired gait of muscle movement and regular day-to-day activity. 

Mild-

This usually occurs in the age group of twenty to seventy-year-olds and causes mild muscle weakness, cataracts, and myotonia.

Congenital-

Congenital Myotonic dystrophy type 1 can even begin birth since DM is an inherited disorder. In such a case, the symptoms include decreased fetal movement, which can hamp brain neurons and other bodily organs like feet. In children and adults, the Congenital myotonic dystrophy symptoms may consist of slurred speech, an intellectual disability, and hypotonia(decreased muscle resistance).

Childhood-

Heart condition abnormalities, myotonia, unclear speech, and psychosocial problems due to mental abnormality since early childhood are classified under Childhood Myotonic dystrophy type 1. 

DM 1 Test

Genetic testing to find out the presence of an exceeded amount of the DMPK gene is usually used to determine whether a patient has Myotonic dystrophy type 1. Electromyogram EMG is one of the most common forms of DM1 test. However, your healthcare provider may ask you to try multiple tests for confirmation.

• The ceratine kinase blood test measures the amount of Ceratine kinase(an enzyme the heart and skeletal muscle release into your blood) in elevated quantity when you have DM1.

• Electromyogram EMG test uses a needle electrode to quantify the electrical activity in your muscle fibers. People with Myotonic dystrophy type 1 have a very inconsistent range of electrical activity in their muscles, even at rest.

• Muscle Biopsy test gets a scanned biopsy report in which a sample of your tissue and cell will be analyzed to look for signs of Myotonic dystrophy type 1.

Since DM1 affects the bodily function of several organs, doctors suggest getting an Electrocardiogram test at times to inspect any underlying heart abnormalities. Other complementary tests include pulmonary lung testing and a sleep study to check for hypersomnia. 

Treatment of Myotonic Dystrophy Type 1

Since there is no permanent cure for the disorder, after a DM1 test and diagnosis, the focus of your doctor will be symptom relief and improving the individual's quality of life. A multidisciplinary approach to address the disorder will include physical therapy, heart rate monitoring, and explicitly treating myotonia and cataracts. 

Healthcare providers suggest following regular health checkups to prepare the patients for the emerging health implications. With medications to restrict the intensity of the impact of myotonia and devices to assist oneself, such as braces, canes, and wheelchairs, one can learn to improve their living condition even with Myotonic dystrophy type 1.

Since it is an inherited condition, having genetic counseling with doctors is suggested before having a child, as the myotonic dystrophy symptoms indubitably get passed on to future offspring. Therefore, you must get a DM1 test done with a trusted pathologist such as Aglius Diagnostics and start bracing yourself for future implications.