Essay On Myotonic Dystrophy

Myotonic Dystrophy was discovered in 1909 by Hans Gustav Wilhelm Steinart who was a German physician. In the same year, Frederic Eustace Batten who was a British Physician described the disease. Steinart’s Disease has two types, type 1 and type 2. Type 1 is more severe than Type 2, but Type 2 occurs less frequently. The disease often presents itself during adulthood in the 20’s or 30’s; however it can occur at any time. Symptoms of the disease include the inability to relax muscles after contractions, progressive muscle weakness, atrophy, early baldness in men, gonadal atrophy, abnormal glucose tolerance curve (insulin resistance), mental deficiency, cardiac conduction defects (abnormalities of electrical signals controlling the heartbeat), and foot drop. Weakness of muscles occurs in the
These treatments include anti-diabetic drugs, anti-myotonic drugs, nonsteroidal anti-inflammatory drugs, physiotherapy, speech therapy, psychiatric therapy, assistive devices such as braces and wheelchairs, eye crutches, pacemaker, cough assist, continuous positive airway pressure (CPAP), orthopedic surgery, cataract removal, and eyelid surgery. However, surgeries are used as a last resort, because patients with Myotonic Dystrophy may have complications with the use of anesthesia. Myotonic dystrophy can be detected prenatally when the fetus is checked for the presence of the mutation.
The initial diagnosis is made using a physical examination as well as analyzing a family history. The patient will undergo a series of medical tests depending on their symptoms. The patient is given the procedure, electromyography (EDM) to detect the presence of myotonia in high proportions. A muscle biopsy can also be performed by withdrawing a small part of the affected muscle and analyzing it with a microscope. After this, the disorder can be confirmed through genetic testing using a blood