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Muscular Dystrophy

Muscular Dystrophy Treatment in Delhi, India

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Overview

Muscle dystrophy is a group of conditions that causes damage to various muscle groups in an individual. As a result, muscles become weaker and less flexible due to the loss of muscle mass, affecting an individual’s ability to walk freely and carry out their day-to-day activities. Later on, this condition can also affect the patient's other vital organs, like the heart and lungs.

This specific disorder is present either at birth or during the early childhood phase. Very few forms of this condition develop during late adulthood. In this condition, gene mutation occurs, interfering with the production of proteins required to form a healthy muscle. It is more commonly seen in males than females.

Types of Muscular Dystrophy

Although there are more than 30 types of muscular dystrophies present among individuals, the most common ones are as follows:

  • Duchenne Muscular Dystrophy (DMD): This is the most common form of muscular dystrophy found in boys under 2 to 5 years old. It is characterised by difficulty in walking, running and climbing stairs. Slowly, the child's other organs, like the heart and the lungs, start getting involved.
  • Congenital Muscular Dystrophy (CMD): This is present at the time of birth, and the infant presents with weakness in the muscle, a curved spine, and stiff joints. Infants also present with learning difficulties and vision problems.
  • Facioscapulohumeral Muscular Dystrophy (FSHD): As the name suggests, this condition affects the muscles in the face, shoulder girdle, and upper arms. It is seen in children as well as adults in the age group up to 40 years.
  • Limb Girdle Muscular Dystrophy: This condition tends to affect the muscles in the body around the shoulder and the hips. It affects people of all age groups.
  • Becker Muscular Dystrophy (BMD): This is the milder form of Duchenne Muscular Dystrophy, and boys are affected more frequently than girls. This condition affects the muscles of the hip, thigh and shoulder joints. The symptoms appear late in the age group of 11 to 25 years.
  • Myotonic Muscular Dystrophy: This condition is most commonly found in adults and is characterised by the inability of the muscles to relax entirely once they contract. This condition affects males and females equally, and the symptoms appear in their late 20s.
  • Distal Muscular Dystrophy: As the name suggests, this condition affects the muscles of arms, hands, legs and feet. The symptoms come late in life, around 40 to 60 years old.
  • Oculopharyngeal Muscular Dystrophy: This condition causes weakness in the muscles of the face and neck, drooping of eyelids, and difficulty swallowing. The symptoms appear in a person under 40 to 50 years old.
  • Emery-Dreifuss Muscular Dystrophy: This condition affects children under the age group of 10 years and is characterised by heart problems and overall muscular weakness.

Symptoms of Muscular Dystrophy

Muscular weakness is the main symptom seen in muscular dystrophy. Depending on the type of muscular dystrophy present, various muscle groups are affected accordingly. Various other symptoms of muscular dystrophy are as follows:

  • Muscular Pain
  • Joint stiffness
  • Difficulties in learning
  • Enlarged calf muscles
  • Scoliosis
  • Difficulty in swallowing
  • Difficulty in walking or running
  • Abnormal walking pattern
  • Heart problems like Cardiomyopathy
  • Difficulty in breathing
  • Loss of reflexes
  • Poor posture
  • Thinning of bone
  • Lung weakness
  • Difficulty in standing

Causes of Muscular Dystrophy

Gene mutations are attributed to this condition, and each type of muscular dystrophy is caused by a separate set of mutations in the body. These mutations prevent the production of a protein called Dystrophin, which is responsible for building and repairing muscle groups.

If Dystrophin is absent, then the muscles don't work normally. For example, in Duchenne muscular dystrophy, Dystrophin is absent, whereas, in Becker muscular dystrophy, Dystrophin is present in a relatively smaller quantity.

Diagnosis of Muscular Dystrophy

Muscular dystrophy can be diagnosed by performing several tests. These are as follows:

  • Blood tests: These include checking the levels of Myoglobin, serum creatine kinase and serum aldolase
  • Muscle Biopsy: This is done to differentiate muscle dystrophy from other muscle-related diseases. It is carried out by removing a small muscle fibre through an incision.
  • Enzyme Test: The damaged muscles release a particular enzyme called Creatin kinase in the blood. Therefore, for a person who hasn't undergone any traumatic injury, his blood samples are checked to access elevated levels of creatine kinase.
  • Electromyography (EMG): It measures the electrical activity of the muscle by inserting a needle electrode into the muscle to be tested. Electrical activity of the muscle is recorded as it tends to contract and relax. The changes in muscle activity can confirm muscular dystrophy.
  • Heart Monitoring Tests: These comprise electrocardiogram and echocardiogram. These are carried out to check heart function in individuals with myotonic muscular dystrophy.
  • Neurological Physical Examination: It checks the amount of muscle strength and reflexes present in an individual.
  • Lung monitoring tests to evaluate lung function.

Treatment of Muscular Dystrophy

Although no permanent cure is involved in managing muscular dystrophy, and the symptoms worsen over a while, specific treatment options available can ease the discomfort and give some temporary relief to the patients. These are as follows:

  • Corticosteroids like prednisone and deflazacort help to slow down the progression of this condition.
  • Speech therapy to improve speech difficulties and problems related to swallowing.
  • Physical therapy to improve strength in the muscles and improve their overall range of motion.
  • Heart medications like ACE inhibitors or beta-blockers enhance the functioning of the heart.
  • Wearing braces can help to slow down the progression of contractures and keep the muscles in a stretched state.
  • Use of mobility aids like canes, walkers, or wheelchairs to maintain mobility and functional independence.
  • Surgery can be done to correct spinal deformities.

Complications of Muscular Dystrophy

Muscular dystrophy tends to affect the muscles, heart, and lungs. As a result, certain complications are bound to happen depending on the type of muscular dystrophy present. These are as follows:

  • Limitation in mobility.
  • Difficulty in breathing.
  • Cardiomyopathy
  • Scoliosis

Prevention of Muscular Dystrophy

To enjoy a healthy life, the following precautions can always be kept in mind:

  • Regular exercise.
  • Consume a lot of fluids to avoid dehydration.
  • Maintain healthy weight.
  • Intake of a healthy diet.
  • Stop smoking.

Outlook of Muscular Dystrophy

Muscular dystrophy is a slow-developing and progressive disease that worsens over time. Medications help protect the body's vital organs, including the heart and lungs, and physical therapy aims to improve muscle strength and breathing. The life expectancy of people with muscular dystrophy depends on the type and severity of the symptoms. On average, the life expectancy is supposed to be 30 years, but with the latest developments in the medical field, the life expectancy has gone up to 40 years.

Review

Reviewed by Dr. K K Jindal - Director - Department of Neurology, Neurosciences.


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