What is Muscular Dystrophy?

Muscular dystrophy is a group of diseases that cause progressive muscle weakness and loss of muscle mass. In muscular dystrophy, defective genes (mutations) disrupt the production of proteins essential for the construction of healthy muscle.

There are numerous types of muscular dystrophy. Symptoms of the most common form appear in childhood, primarily in boys. Other forms don't appear until later in life.

There's no treatment for muscular dystrophy. But medicines and physical therapy can alleviate symptoms and halt the progression of the disease.

What are the symptoms of Muscular Dystrophy?

The primary symptom of muscular dystrophy is progressive muscle weakness. There are certain signs and symptoms that occur at different ages and in different muscle groups, depending on the type of muscular dystrophy.

Duchenne type muscular dystrophy

This is the most frequent type. While girls may be carriers and mildly affected, it is many times more frequent in boys.

Signs and symptoms, which usually develop in early childhood, may include:

• Triumphant falls
• Trouble standing up from lying down or sitting
• Difficulty running and jumping
• Waddling gait
• Walking on the toes
• Increased calf muscle size
• Muscle pain and stiffness
• Learning disabilities
• Delayed growth

Becker muscular dystrophy

Signs and symptoms resemble those of Duchenne muscular dystrophy but are usually milder and less rapidly progressive. Symptoms usually appear in the teenage years but may not until the mid-20s or beyond.

Other forms of muscular dystrophy

Some forms of muscular dystrophy are characterized by a unique feature or by the location within the body where symptoms start. Some examples are:

• Myotonic: This is due to an inability to relax muscles after contractions. Facial and neck muscles tend to be affected first. Individuals with this type tend to have long, narrow faces; hanging eyelids; and swan necks.
• Facioscapulohumeral (FSHD): Weakness in the muscles normally starts in the face, hip, and shoulders. Shoulder blades may protrude as wings when arms are lifted. It usually starts in the teenage years, but may start in childhood or as late as 50 years of age.
• Congenital: It affects both boys and girls and is evident at birth or by the age of 2. There are some types that advance slowly and only bring slight disability, but others advance rapidly and bring complete impairment.
• Limb-girdle: Hip and shoulder muscles are usually affected first in muscular dystrophy. People with this condition might have trouble lifting the front part of their foot, which can make them trip often. Symptoms usually start in childhood or the teenage years.

What Causes Muscular Dystrophy?

Some genes help make proteins that protect muscle fibers. When one of these genes is faulty, it can cause muscular dystrophy.

Each type of muscular dystrophy is due to a genetic mutation specific to that type of disease. Most are inherited.

How to Diagnose Muscular Dystrophy?

Your physician will most likely begin with a physical examination and medical history.

Subsequently, your physician may suggest:

• Tests for enzymes: When muscles are injured, they release enzymes, like creatine kinase (CK), into your blood. In an individual who has not experienced a traumatic injury, elevated levels of creatine kinase (CK) in the blood indicate muscle disease.
• Genetic testing: Blood tests can be analyzed for mutations within some of the genes responsible for causing types of muscular dystrophy.
• Muscle biopsy: A portion of muscle may be taken with an incision or by means of a hollow needle. The tissue sample may be analyzed to differentiate muscular dystrophies from other muscle conditions.
• Heart-monitoring tests (electrocardiography and echocardiogram): These tests are done to monitor heart function, particularly in individuals diagnosed with myotonic muscular dystrophy.
• Lung-monitoring tests: These tests are done to monitor lung function.
• Electromyography: A needle electrode is placed in the muscle to be tested. Electrical activity is recorded as you relax and as you slowly contract the muscle. Abnormalities in the pattern of electrical activity can indicate a muscle disease.

What is the treatment for Muscular dystrophy?

While there is no treatment for any type of muscular dystrophy, certain types of the disease can be treated to prolong the time an individual can remain mobile and to improve heart and lung muscle strength. New therapies are in clinical trials.

Individuals with muscular dystrophy must be followed throughout life. Their healthcare team should include a neurologist with expertise in neuromuscular conditions, a physical medicine and rehabilitation physician, and physical and occupational therapists.

Others may require a lung doctor (pulmonologist), heart doctor (cardiologist, a sleep doctor, an endocrine system specialist (endocrinologist), an orthopedic surgeon, and other specialists.

Treatment may involve drugs, physical and occupational therapy, surgery, and other interventions. Regular evaluation of walking, swallowing, breathing, and hand use allows the treatment team to adjust treatment as the disease evolves.

Drugs (Medications)

Your physician may prescribe:

• Corticosteroids, such as prednisone and deflazacort (Emflaza), may improve muscle strength and slow the progression of certain forms of muscular dystrophy. But long-term use of these kinds of medications can lead to weight gain and thinning bones, making fractures more likely.
• More recent drugs are eteplirsen (Exondys 51), the first drug to be approved by the Food and Drug Administration (FDA) specifically to treat certain individuals with Duchenne muscular dystrophy. It was approved conditionally in 2016.
• In 2019, the Food and Drug Administration (FDA) approved golodirsen (Vyondys 53) for the treatment of certain individuals with Duchenne dystrophy who have a specific genetic mutation.
• Medications for the heart, such as angiotensin-converting enzyme (ACE) inhibitors or beta blockers, if muscular dystrophy has damaged the heart.

Therapy

Some forms of therapy and assistive devices can enhance the quality and sometimes the duration of life in individuals who have muscular dystrophy. Some examples are:

• Range-of-motion and stretching exercises: Muscular dystrophy may limit joint flexibility and mobility. Limbs tend to pull inward and become stuck in that position. Range-of-motion exercises can help keep joints as flexible as possible.
• Exercise: Low-impact aerobic exercises, like walking and swimming, can help you stay strong, mobile, and healthy. Some strengthening exercises can also be useful. But it’s important to talk to your doctor first because some exercises might be harmful.
• Braces: Braces may be used to keep muscles and tendons stretched and supple, preventing contractures from advancing. Braces can also assist with mobility and function by providing support to weak muscles.
• Mobility aids: Canes, walkers and wheelchairs can assist with maintaining mobility and independence.
• Breathing support: As the muscles used for breathing weaken, a sleep apnea machine may improve oxygen delivery at night. Individuals with more severe muscular dystrophy may need to rely on a machine that pushes air in and out of the lungs (ventilator).

Surgery

Surgery may be necessary to relieve contractures or a curvature of the spine that can ultimately contribute to breathing difficulties. A pacemaker or other heart device may help the heart function.

Prevention of respiratory infections

Respiratory infections may become an issue in muscular dystrophy. Therefore, vaccination for pneumonia and getting up to date on flu shots is crucial. Avoid being in contact with children or adults with a visible infection.

What are the risk factors of Muscular dystrophy?

Muscular dystrophy occurs in both sexes and across all ages and races. The most prevalent form, however, Duchenne, typically appears in young boys. Individuals with a family history of muscular dystrophy are at greater risk of developing the disease or passing the disease to their offspring.

Why choose Tender Palm Super Specialty Hospital for Muscular Dystrophy treatment in Lucknow, India?

Tender Palm Super Speciality Hospital offers advanced Muscular Dystrophy treatment in Lucknow at an affordable cost. We have a team of experienced neurologists, neuromuscular specialists, pediatric neurologists, and rehabilitation experts who provide accurate diagnosis, personalized care, and advanced treatment for Muscular Dystrophy. Our neurosciences team has extensive experience in successfully treating Muscular Dystrophy in Lucknow, India.

To seek an Expert Consultation for Muscular Dystrophy treatment in Lucknow, India:

Call us at +91-9076972161
Email at care@tenderpalm.com

Request a Call Back