Symptoms Of Muscular Dystrophy And Types Of The Disorder

Muscular dystrophies (MDs) are a group of genetic diseases with progressive skeletal muscle weakness and decrease muscle function. There are different types of muscular dystrophy. They share similar characteristics such as being hereditary, progressive and weakness.

According to the National Institute of Neurological Disorders and Stroke (2013), muscular dystrophies also differ in age of onset, pattern of inheritance and rate of progression. Dystrophy comes from the Greek word “dys” meaning abnormal and “trophe” which means process of development (Turley, 2017). Researchers are trying to discover new ways to treat patients with muscular dystrophy.

All muscular dystrophies are inherited and involve a mutation in genes that code for proteins in muscle fibers. Thus, without these proteins, muscles fibers get weak and atrophy over time. Signs start with weakness in the lower extremities then the upper extremities. Soon, a person will lose the ability to do tasks such as standing, walking or breathing. According to Center for Disease Control and Prevention (2019), MD can “run in the family or a person may be the first one in their family”. Muscular dystrophy affects different muscles in the body.

Muscular dystrophy affects mainly skeletal muscles but may also affect smooth and cardiac muscles. Thus, MDs also affect the heart, gastrointestinal system, brain and other organs. According to the National Institute of Neurological Disorders and Stroke (2013), a person with the disease will progressively lose the ability to contract and relax these muscles. Muscle dystrophy affects these muscle groups at different age, with different symptoms and severity.

The many types of muscular dystrophy include Duchenne’s MD, Facioscapohumeral MD, Myotonic MD and congenital MD. Duchenne’s MD is the most common and severe form. It affects primarily boys. The National Institute of Health (2019) indicates that “children with Duchenne’s muscular dystrophy may look normal for the first few years of life but between the ages of 2 and 5 years, they begin to show signs of clumsiness, falling, and gait changes, as well as difficulty ascending stairs” This type of MD is caused by the absence of the protein dystrophin, a protein that keeps the muscle fibers in shape. On the other hand, facioscapohumeral begins in the teenage years. Myotonic is the most common adult form that shows muscle spasm, and cardiac abnormalities. Lastly, congenital MD typically begins at birth or in early infancy. Treatment and diagnosis for muscular dystrophy vary for each person.

There is no cure for muscular dystrophy. Many tests are used to diagnose MD. According to the National Institute of Neurological Disorders and Stroke (2019), treatment may include “physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support and corrective orthopedic surgery”. In addition, the National Institute of Health (2019) states that drug therapy such as corticosteroids help slow down muscle degeneration, and assisted ventilation helps treat respiratory muscle weakness. Blood and urine test, genetic testing, diagnostic imaging, muscle biopsies and neurophysiology studies are just a few tests used to confirm diagnosis of MD. The prognosis for muscular dystrophy varies in each patient.

The prognosis of MD is influence by the type of disease and speed of progression. According to the National Institute of Health (2019), some types of muscular dystrophy can advance slowly, but “others can produce severe muscle weakness, functional disability, and loss of the ability to walk”. In some cases, children will die at infancy while others survive into adulthood. Because muscular dystrophy can have onset at different age and speed of progression, some types of MD can take a long time to diagnose. This may result in patients missing on access to medical care, delay start in receiving early intervention services and educational services.

In conclusion, muscular dystrophy is a genetic disease with progressive skeletal muscle weakness and decrease muscle function. It causes muscle weakness in voluntary and involuntary muscles. The disease can have onset at different age, with different symptoms and speed of progression. There isn’t a cure for muscular dystrophy. Treatment help to improve the quality of life and reduce complications. Various tests are used to diagnose MD. Researchers continue to discover new treatments to address the different types of muscular dystrophies.