Muscular Dystrophy Symptoms, Causes And Available Treatment619
Muscle loss and weakness occur gradually in a group of diseases known as muscular dystrophies. In muscular dystrophy, faulty genes (mutations) prevent the body from making the necessary proteins for building healthy muscle.
Several types of muscular dystrophy exist. The most prevalent type's symptoms start in childhood, particularly in boys. Some varieties do not show up till later in life.
Muscular dystrophy has no known treatment. Nevertheless, treatments and medicines can help control symptoms and halt the progression of the illness.
Making proteins that safeguard muscle fibers involves the production of certain genes. A faulty copy of one of these genes results in muscular dystrophy.
A genetic mutation specific to each variety of muscular dystrophy is the disease's aetiology. These mutations are often hereditary.
How to check if you have Muscular Dystrophy?
If you or your child exhibits symptoms of muscular weakness, such as increasing clumsiness and falling, you should seek medical attention.
Muscular dystrophy affects people of all ages, ethnicities, and genders. Yet the most prevalent kind, Duchenne, typically affects young males. Individuals who have a history of muscular dystrophy in their families are more likely to get the illness or pass it on to their offspring.
Progression of muscle weakening is the predominant symptom of muscular dystrophy. Depending on the kind of muscular dystrophy, particular signs and symptoms appear at various ages and in various muscle groups.
Duchenne Muscular dystrophy
The most typical kind is this one. Girls can have the gene and have modest symptoms, but boys are considerably more likely to have it.
Early childhood is often when signs and symptoms first arise. These include:
- Falls often
- Difficulty getting out of a seated or lying down posture
- Difficulty jumping and running
- Stumbling gait
- Stepping onto your toes
- Extensive calf muscles
- Painful and tight muscles
- Having trouble learning
- Sluggish growth
Becker muscular dystrophy
While the signs and symptoms of Duchenne muscular dystrophy are similar, they are often milder and proceed more slowly. Symptoms often start in teenagers.
However, it may not happen until the mid-20s or later.
Muscle dystrophies of different kinds
Certain forms of muscular dystrophy are distinguished by a particular trait or by the location of the body's first symptoms. Examples comprise:
Myotonic. The inability of the muscles to relax after contractions is what distinguishes this condition. The muscles of the face and neck are typically the first to be impacted. This type is characterized by long, thin features, swan-like necks, and drooping eyes.
Facioscapulohumeral (FSHD). Usually, the face, hips, and shoulders are where muscle weakness first appears. As the arms are elevated, the shoulder blades may protrude like wings. Although it can start as early as childhood or as late as age 50, the onset often happens in the teenage years.
Congenital. This kind impacts both males and girls, and it is obvious before age two or before birth. While some types evolve gradually and just slightly affect people, others advance quickly and seriously harm people.
Limb-girdle. Usually, the hip and shoulder muscles are impacted first. Individuals who have this kind of muscular dystrophy could struggle to elevate the front of the foot, making them more likely to tumble. Often, onset starts in early infancy or adolescence.
Despite the fact that there is no therapy for any kind of muscular dystrophy, several treatments can help patients live more independently and improve the strength of their hearts and lungs. New therapeutics are currently being tested.
Throughout their lives, people with muscular dystrophy should be watched over. A physical medicine and rehabilitation specialist, a physical therapist, and a neurologist with experience in neuromuscular illnesses should be on their care team.
Other experts that some patients may require include orthopaedic surgeons, endocrinologists, sleep specialists, pulmonologists, cardiologists, and specialists in the heart, lungs, and the endocrine system.
Medication, physical and occupational therapy, surgery, and other treatments are available.The treatment team can modify therapy as the condition worsens.
Medicines that your doctor could prescribe:
Prednisone and deflazacort (Emflaza), two corticosteroids, can improve muscle strength and slow the course of some kinds of muscular dystrophy. Nevertheless, continued use of these medications can lead to weight gain and weakening bones, which raises the risk of fracture.
Eteplirsen (Exondys 51), a more recent medicine, was the first one to be accepted for the treatment of certain persons with Duchenne muscular dystrophy.
Drug for the treatment of the heart, such as ACE inhibitors or beta blockers can be prescribed if cardiac damage from muscular dystrophy occurs
People with muscular dystrophy can benefit from a variety of therapies and assistive technologies that can enhance their quality of life and occasionally even lengthen it. Examples comprise:
Stretching and range-of-motion exercises. Muscular dystrophy can limit the joints' range of motion and flexibility. Legs frequently curl inward and stay in that posture. Exercises that increase the range of motion can keep joints as flexible as possible.
Exercise. Walking and swimming are examples of low-impact aerobic exercises that can assist preserve strength, mobility, and overall health. Certain strengthening exercises may also be beneficial. But, it is crucial to see your doctor beforehand as some forms of exercise might be dangerous.
Braces. Braces can assist in keeping tendons and muscles flexible and stretched, halting the development.
Contractures. Braces can help with mobility and performance by supporting weak muscles.
Assistance to mobility. Mobility and independence can be maintained with the use of wheelchairs, walkers, and canes.
Breath-holding support. A sleep apnea gadget might assist increase oxygen supply at night when respiratory muscles deteriorate. Using a machine that pumps air into and out of their lungs is necessary for certain persons with severe muscular dystrophy (ventilator).
Contractures or a spinal curvature that may later make breathing more challenging may require surgery to be corrected. With the help of a pacemaker or other cardiac device, heart function may be enhanced.
Respiratory diseases from occurring
Muscular dystrophy patients may have respiratory infections as an issue. As a result, it is crucial to maintain flu vaccination records and get a pneumonitis vaccine. Try to avoid coming into touch with children or people who are obviously ill.
Complications of Muscular Dystrophy
Progressive muscular weakening has a number of side effects, including:
Difficulty walking. Some muscular dystrophy patients eventually use a wheelchair.
Difficulty utilizing arms. If the shoulders and arms are impaired, daily tasks may become more challenging.
Muscles or tendons surrounding joints shortening (contractures). Mobility may be further hampered by contractures.
Breathing difficulties. The respiratory muscles might be harmed by progressive weakening. A ventilator may eventually be required for people with muscular dystrophy, initially just at night but perhaps even throughout the day.
Bent spine (scoliosis). It is possible that weakened muscles can not keep the spine straight.
Heart issues. Muscular dystrophy can make the heart muscle less effective.
issues with swallowing. Affected swallowing muscles can lead to nutritional issues and aspiration.
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Page last reviewed: Mar 29, 2023
Next review due: Mar 29, 2025