Muscular Dystrophy

Introduction: Muscular dystrophy is a group of diseases that cause progressive weakness and loss of muscle mass. In muscular dystrophy, abnormal genes (mutations) interfere with the production of proteins needed to form healthy muscle.

There are many different kinds of muscular dystrophy. Symptoms of the most common variety begin in childhood, mostly in boys. Other types don’t surface until adulthood.

 

There’s no cure for muscular dystrophy. But medications and therapy can help manage symptoms and slow the course of the disease.

Causes

Muscular dystrophy is caused by mutations on the X chromosome. Each version of muscular dystrophy is due to a different set of mutations, but all prevent the body from producing dystrophin. Dystrophin is a protein essential for building and repairing muscles.

Duchenne muscular dystrophy is caused by specific mutations in the gene that encodes the cytoskeletal protein dystrophin. Dystrophin makes up just 0.002 percent of the total proteins in striated muscle, but it is an essential molecule for the general functioning of muscles.

Dystrophin is part of an incredibly complex group of proteins that allow muscles to work correctly. The protein helps anchor various components within muscle cells together and links them all to the sarcolemma – the outer membrane.

If dystrophin is absent or deformed, this process does not work correctly, and disruptions occur in the outer membrane. This weakens the muscles and can also actively damage the muscle cells themselves.

In Duchenne muscular dystrophy, dystrophin is almost totally absent; the less dystrophin that is produced, the worse the symptoms and etiology of the disease. In Becker muscular dystrophy, there is a reduction in the amount or size of the dystrophin protein.

The gene coding for dystrophin is the largest known gene in humans. More than 1,000 mutations in this gene have been identified in Duchenne and Becker muscular dystrophy

Sign and Symptom: The main sign of muscular dystrophy is progressive muscle weakness. Specific signs and symptoms begin at different ages and in different muscle groups, depending on the type of muscular dystrophy.

Duchenne type muscular dystrophy

This is the most common form of muscular dystrophy. Although girls can be carriers and mildly affected, it’s much more common in boys.

About one-third of boys with Duchenne muscular dystrophy (DMD) don’t have a family history of the disease, possibly because the gene involved may be subject to sudden abnormal change (spontaneous mutation).

Signs and symptoms typically appear in early childhood and may include:

• Frequent falls
• Difficulty rising from a lying or sitting up position
• Trouble running and jumping
• Waddling gait
• Large calf muscles
• Walking on the toes
• Muscle pain and stiffness
• Learning disabilities

Becker muscular dystrophy

Signs and symptoms are similar to those of Duchenne muscular dystrophy, but tend to be milder and progress more slowly. Symptoms generally begin in the teens but may not occur until the mid-20s or even later.

Other types of muscular dystrophy

Some types of muscular dystrophy are defined by a specific feature or by where in the body symptoms first begin. Examples include:

Facioscapulohumeral (FSHD). Muscle weakness typically begins in the face and shoulders. The shoulder blades might stick out like wings when a person with FSHD raises his or her arms. Onset usually occurs in the teenage years but may begin in childhood or as late as age 40

• Also known as Steinert’s disease, this form is characterized by an inability to relax muscles at will following contractions. Myotonic muscular dystrophy is the most common form of adult-onset muscular dystrophy. Facial and neck muscles are usually the first to be affected.
• Limb-girdle. Hip and shoulder muscles are usually the first affected. People with this type of muscular dystrophy may have difficulty lifting the front part of the foot and as a result may trip frequently. Onset usually begins in childhood or the teenage years..
• This type affects boys and girls and is apparent at birth or before age 2. Some forms progress slowly and cause only mild disability, while others progress rapidly and cause severe impairment.

Complications

The complications of progressive muscle weakness include:

• Trouble walking. Some people with muscular dystrophy eventually need to use a wheelchair.
• Shortening of muscles or tendons around joints (contractures). Contractures can further limit mobility.
• Breathing problems. Progressive weakness can affect the muscles associated with breathing. People with muscular dystrophy may eventually need to use a breathing assistance device (ventilator), initially at night but possibly also during the day.
• Curved spine (scoliosis). Weakened muscles may be unable to hold the spine straight.
• Heart problems. Muscular dystrophy can reduce the efficiency of the heart muscle.
• Swallowing problems. If the muscles involved with swallowing are affected, nutritional problems and aspiration pneumonia may develop. Feeding tubes may be an option.

 

Diagnosis: There are a variety of techniques used to definitively diagnose muscular dystrophy:

The genetic mutations involved in muscular dystrophy are well known and can be used to make a diagnosis.

• Enzyme assay: Damaged muscles produce creatine kinase (CK). Elevated levels of CK in the absence of other types of muscle damage could suggest muscular dystrophy.
• Genetic testing: As genetic mutations are known to occur in muscular dystrophy, these changes can be screened for.
• Heart monitoring: Electrocardiography and echocardiograms can detect changes in the musculature of the heart. This is especially useful for the diagnosis of myotonic muscular dystrophy.
• Lung monitoring: Checking lung function can give additional evidence.
• An electrode needle is inserted into the muscle to be tested. Electrical activity is measured as you relax and as you gently tighten the muscle. Changes in the pattern of electrical activity can confirm a muscle disease.
• Genetic testing. Blood samples can be examined for mutations in some of the genes that cause different types of muscular dystrophy.
• Muscle biopsy. A small piece of muscle can be removed through an incision or with a hollow needle. Analysis (biopsy) of the tissue sample can distinguish muscular dystrophies from other muscle diseases.

 

Treatment:

Drugs

The two most commonly prescribed drugs for muscular dystrophy are:

• Corticosteroids: This type of medication can help increase muscle strength and slow progression, but long-term use can weaken bones and increase weight gain.

Heart medications: If the condition impacts the heart, beta blockers and angiotensin-converting enzyme (ACE) inhibitors may help

 

Therapy

Several types of therapy and assistive devices can improve the quality and sometimes the length of life in people who have muscular dystrophy. Examples include:

• Range-of-motion and stretching exercises. Muscular dystrophy can restrict the flexibility and mobility of joints. Limbs often draw inward and become fixed in that position. Range-of-motion exercises can help to keep joints as flexible as possible.
• Low-impact aerobic exercise, such as walking and swimming, can help maintain strength, mobility and general health. Some types of strengthening exercises also might be helpful. But it’s important to talk to your doctor first because some types of exercise might be harmful.
• Braces can help keep muscles and tendons stretched and flexible, slowing the progression of contractures. Braces can also aid mobility and function by providing support for weakened muscles.
• Mobility aids. Canes, walkers and wheelchairs can help maintain mobility and independence.
• Breathing assistance. As respiratory muscles weaken, a sleep apnea device may help improve oxygen delivery during the night. Some people with severe muscular dystrophy may need to use a machine that forces air in and out of their lungs (ventilator).

 

What Makes our Stem Cell Treatment for Muscular Dystrophy Effective?

Since 2005, we have been developing comprehensive protocols regarding stem cell treatment for muscular dystrophy to overcome the limitations of conventional therapies. In our protocols, stem cells are combined with specialized therapies for muscular dystrophy that not only focus on helping the patient to cope with their symptoms, but also treat the direct cause of the symptoms by promoting the healing of the affected muscles. We believe that our comprehensive stem cell treatment for muscular dystrophy gives our patients the best chances of improvements, allowing for a better quality of life. Different types of muscular dystrophy can be considered for treatment, such as Duchenne, Becker, Limb Girdle, Fascio-Scapulo Humeral and more.

What potential improvements after therapy?

The purpose of stem cell treatment for muscular dystrophy is to promote the healing and growth of the affected muscles. Thus, various kinds of improvement are possible after our treatment and our past patients have experienced the following*:

• Enlarged muscle mass
• Improved range of movement
• Increased muscle strength
• Decreased tremor occurrence
• Improved balance
• Decreased stiffness
• Improved development (in children)