Bay Biosciences provides high-quality biopsy fresh frozen tissue samples, with matched fresh frozen sera (serum), plasma, and peripheral blood mononuclear cells (PBMC) bio-fluids, from patients diagnosed with myotonic muscular dystrophy (MD).
The sera (serum), plasma and peripheral blood mononuclear cells (PBMC) biofluid specimens are processed from patients peripheral whole-blood using customized collection and processing protocols from myotonic muscular dystrophy (MD).
Fresh frozen tissue and matched biofluid samples were, collected from unique patients diagnosed with myotonic muscular dystrophy (MD).
Bio-samples are provided to a valued pharmaceutical customer for research, diagnostics, discovery, and drug development.
Muscular Dystrophy (MD) Overview
Muscular dystrophy (MD) 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. These diseases can make muscles weaker and less flexible over time.
It is caused by a problem in the genes that control how the body keeps muscles healthy. For some patients, the disease starts early in childhood. Others don’t have any symptoms until they are teenagers or middle-aged adults.
Most MD patients condition will get worse over time, and some people may lose the ability to walk, talk, or care for themselves. But that doesn’t happen to everyone. Other patients can live for many years with mild symptoms.
There are many 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.
Until recent years, it was common for boys with muscular dystrophy to live up until their teen years or shortly thereafter. But with recent advancements in cardiac and respiratory care, life expectancy for muscular dystrophy is increasing. Today it is more common to see people with muscular dystrophy go on to live into their 30s.
Types of Muscular Dystrophy (MD)
There are more than 30 kinds of muscular dystrophy, and each is different based on the following:
- The genes that cause it
- Muscles it affected by the condition
- The age when symptoms first appear
- How quickly the condition gets worse
Muscular dystrophy (MD) patients usually get one of the following nine major forms of the disease:
- Duchenne Muscular Dystrophy (DMD): This type of MD is the most common form. It mainly affects boys, and starts between ages 3 and 5.
- Becker Muscular Dystrophy: This MD is like Duchenne, except milder. It also affects boys but the symptoms start later, usually between ages 11 and 25.
- Myotonic Muscular Dystrophy: is the most common form in adults. Patients who have it can’t relax their muscles after they contract. It can affect both men and women, and it usually starts when patients are in their 20s.
- Congenital muscular dystrophy: This type of MD starts at birth or shortly afterwards the birth.
- Limb-Girdle muscular dystrophy: This type of MD usually starts in a person’s teens or 20s.
- Facioscapulohumeral muscular dystrophy (FSHD): This type of muscular dystrophy is rare, and affects the muscles of the face, shoulders, and upper arms and lower legs. It can affect anyone from teenagers to adults in their 40s.
- Distal muscular dystrophy: This type of MD affects the muscles of the arms, legs, hands, and feet. It usually comes on later in life, between ages 40 and 60.
- Oculopharyngeal muscular dystrophy: This type of MD starts in a person’s 40s or 50s. It causes weakness in the muscles of the face, neck, and shoulders, and droopy eyelids (ptosis), followed by difficulty swallowing (dysphagia).
- Emery-Dreifuss muscular dystrophy: This type of affects mainly boys, usually starting around age 10. People with this form often have heart problems along with muscle weakness.
Causes of Muscular Dystrophy (MD)
Muscular dystrophy can run in families, or you can be the first one in your family to have it. The condition is caused by problems in the genes.
A child may inherit the mutated genes from one or both the parents. Parents with mutated genes and without muscular dystrophy may pass the genes to the child, thus increasing the risk of developing the disease.
Genes contain the information your cells need to make proteins that control all of the different functions in the body. When a gene has a problem, your cells can make the wrong protein, the wrong amount of it, or a damaged protein.
You can get muscular dystrophy even if neither of your parents had the disease. This happens when one of your genes gets a defect on its own. But it’s rare for someone to get it this way.
In patients with muscular dystrophy (MD), the broken genes are the ones that make the proteins that keep muscles healthy and strong. For example, those with Duchenne or Becker muscular dystrophies make too little of a protein called dystrophin, which strengthens muscles and protects them from injury.
Signs and Symptoms of Muscular Dystrophy (MD)
Muscle weakness remains the prime symptom of muscular dystrophy. Depending on the type, the onset of disease varies. Other common signs of muscular dystrophy include:
- Arrhythmia
- Breathing problems
- Cardiomyopathy (disease of the heart muscle)
- Difficulty walking or running
- Dysphagia (difficulty swallowing)
- Enlarged calf muscle
- Heart failure
- Learning disabilities
- Muscle aches
- Scoliosis (sideways curved spine)
- Stiff or loose joints
- Waddling (abnormal gait)
Diagnosis of Muscular Dystrophy (MD)
If your doctor suspects muscular dystrophy, you or your child may undergo one or more of these diagnostic tests:
- An enzyme and protein blood test checks for elevated levels of an enzyme called creatine kinase. High levels can indicate muscle damage caused by muscular dystrophy.
- Electromyography (EMG) measures the electrical activity of muscles and nerves.
- A muscle biopsy looks for cell changes in muscle tissue.
- Genetic tests identify gene mutations linked to muscular dystrophy.
A number of tests can help your doctor diagnose muscular dystrophy. Your doctor will order the following tests to diagnose MD :
- Blood Tests: High levels of serum creatine kinase, serum aldolase, and myoglobin may all signal the need for further testing to confirm or rule out muscular dystrophy.
- Genetic Testing: High levels of creatine kinase and signs of insufficient dystrophin may indicate a need for genetic testing. This type of testing looks for a large mutation of the dystrophin (DMD) gene. If there’s no large mutation, the next set of genetic tests will look for small mutations.
- Electromyography (EMG): EMG measures the muscle’s electrical activity using an electrode needle that enters your muscle. It can help doctors to distinguish muscular dystrophy from a nerve disorder.
- Neurological physical exam. This exam rules out nervous system disorders and identifies the state of muscle strength and reflexes.
- Cardiac Tests: Cardiac testing identifies heart problems that sometimes occur with muscular dystrophy. Tests include an echocardiogram to look at the structure of the heart.
- Exercise Assessments: Exercise assessments look at muscle strength, breathing, and how exercise affects the body.
- Imaging Tests: Imaging can show the quality and amount of muscle in your child’s body. They may get:
- MRI, or magnetic resonance imaging. It uses powerful magnets and radio waves to make pictures of their organs.
- Ultrasound, which uses sound waves to make pictures of the inside of the body.
Treatment of Muscular Dystrophy (MD)
Researchers are still looking for a way to cure muscular dystrophy. Disease symptoms get worse over time, but these treatments can help:
- Physical and occupational therapies strengthen and stretch muscles. These therapies can help you maintain function and range of motion.
- Speech therapy helps those who have problems swallowing.
- Corticosteroids, such as prednisone and deflazacort, may slow disease progression.
- Surgery relieves tension on contracted muscles and corrects spine curvature (scoliosis).
- Heart assist devices, such as pacemakers, treat heart rhythm problems and heart failure.
- Medical devices, such as walkers and wheelchairs, can improve mobility and prevent falls.
- Respiratory care, such as cough-assist devices and respirators, aid breathing.
Muscle Therapy
Forms of muscle therapy have proven to be effective. These techniques involve working with a professional to improve physical function. Types of therapy include:
- Physical therapy, including physical activity and stretching, to keep muscles strong and flexible
- Respiratory therapy, to prevent or delay breathing problems
- Speech therapy, to conserve muscle strength through specific techniques such as slower speech, pausing between breaths, and using special equipment
Occupational therapy, a process that focuses on daily activities, can help those with muscular dystrophy:
- Become more independent
- Improve coping skills
- Gain access to community services
- Improve social skills
Medications
Medicines can help ease muscular dystrophy symptoms, and these include the following:
- Eteplirsen (Exondys 51), golodirsen (Vyondys53), and vitolarsen (Viltepso) for treating DMD. They are injection medications that help treat individuals with a specific mutation of the gene that leads to DMD, specifically by increasing dystrophin production.
- Anti-seizure drugs that reduce muscle spasms.
- Blood pressure medicines that help with heart problems.
- Drugs that turn down the body’s immune system, called immunosuppressants; they may slow damage to muscle cells.
- Steroids like prednisone and defkazacort (Emflaza) that slow down muscle damage and can help your child breathe better. They can cause serious side effects, such as weak bones and a higher risk of infections.
- Creatine, a chemical normally found in the body, that can help supply energy to muscles and improve strength for some people. Ask your child’s doctor if these supplements are a good idea for them.
Surgery
Surgery can help with different complications of muscular dystrophy, like heart problems or trouble swallowing.
Researchers are looking for new ways to treat muscular dystrophy in clinical trials. These trials test new drugs to see if they are safe and if they work. They often are a way for people to try new medicine that isn’t available to everyone. Your doctor can tell you if one of these trials might be a good fit for your child.
Other Treatments
Other muscular dystrophy treatment options include the following:
- Assisted ventilation if respiratory muscles are affected
- Corticosteroid drugs, which help strengthen muscles and slow muscle deterioration
- For cardiac problems medication is used
- In some cases surgical procedure is performed to treat cardiac problems in muscular dystrophy patients.
- Surgery to help correct the shortening of muscles
- Eye surgery to repair cataracts
- Surgical procedure to treat scoliosis
Complications of Muscular Dystrophy (MD)
The complications of progressive muscle weakness include:
- Curved spine (scoliosis): Weakened muscles might be unable to hold the spine straight.
- Breathing problems: Progressive weakness can affect the muscles associated with breathing. Patients with muscular dystrophy might eventually need to use a breathing assistance device (ventilator), initially at night but possibly also during the day.
- Difficulty walking: Some people with muscular dystrophy eventually need to use a wheelchair.
- Heart problems: Muscular dystrophy can reduce the efficiency of the heart muscle.
- Shortening of muscles or tendons around joints (contractures): Contractures can further limit mobility.
- Swallowing problems: If the muscles involved with swallowing are affected, nutritional problems and aspiration pneumonia can develop. Feeding tubes might be an option.
- Trouble using arms: Daily activities can become more difficult if the muscles of the arms and shoulders are affected.
Muscular dystrophy can affect pregnancy
Women with muscular dystrophy can have healthy pregnancies. Because muscular dystrophy is inherited, you may want to talk to a genetic counselor before conceiving. During pregnancy, your healthcare provider will closely monitor your health to help you avoid these complications:
- Breathing problems due to added pressure on your lungs
- Heart strain
- Increased muscle weakness and limited mobility due to weight gain
- Low birth weight baby, weighing less than 5 pounds, 8 ounces
- Miscarriage (loss of pregnancy before the baby fully develops)
- Premature labor before the 37th week of pregnancy
Prevention of Muscular Dystrophy
Unfortunately, there isn’t anything you can do to prevent getting muscular dystrophy. If you have the disease, these steps can help you enjoy a better quality of life:
- Eat a healthy diet to prevent malnutrition
- Drink lots of water to avoid dehydration and constipation
- Exercise as much as possible
- Maintain a healthy weight to prevent obesity
- Quit smoking to protect your lungs and heart
- Get Flu and pneumonia vaccines
Prognosis of Muscular Dystrophy
Muscular dystrophy is a progressive disease. Symptoms get worse over time. Physical and occupational therapy, and medical devices like walkers, can help you maintain mobility and independence for as long as possible. Medical specialists provide therapies and can offer recommendations to protect your heart and lungs.
Symptoms, age of onset, and outlook depend on a person’s type of muscular dystrophy.
New research is underway for a potential cure for DMD. In 2018, scientists found a way to repair a gene in canine models ensuring adequate dystrophin production. They hope to one day use this advanced gene editing technique in people with DMD.
Breakthrough research such as this, and medications that slow the progression of DMD symptoms, offer new hope for many people with muscular dystrophy and their families.
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