Bay Biosciences provides high-quality, fresh frozen biopsy tissue samples. FFPE tissue blocks with matched fresh frozen sera (serum), plasma, and peripheral blood mononuclear cells (PBMC) bio-fluids from patients diagnosed with muscular dystrophy (MD).
The sera (serum), plasma and PBMC bio-fluid specimens are processed from muscular dystrophy (MD) patient’s peripheral whole-blood using customized collection and processing protocols.
Fresh frozen biopsy tissue samples and matched bio-fluids are collected from unique patients diagnosed with muscular dystrophy (MD).
Muscular Dystrophy (MD) Overview
Muscular dystrophies are a group of inherited, rare genetic muscle diseases caused by mutations in a patient’s genes. MD causes progressive weakness and loss of muscle mass. Over time, muscle weakness decreases mobility, making everyday tasks more difficult.
There are several kinds of muscular dystrophy, each affecting specific muscle groups, with signs and symptoms appearing at different ages, and varying in severity.
Muscular dystrophy (MD) is a group of over 30 genetic diseases. Some types of MD eventually affect the heart or the muscles used for breathing, at which point the condition becomes life-threatening. MD has no cure, but treatment can help to manage many of the symptoms.
There is currently no way to prevent or reverse MD. However, different kinds of therapy and drug treatments can improve a person’s quality of life and delay the progression of symptoms.
Muscle
Muscle is the tissue of the body which primarily functions as a source of power. There are three types of muscle in the body.
Muscle which is responsible for moving extremities and external areas of the body is called “skeletal muscle.” Heart muscle is called “cardiac muscle.” Muscle that is in the walls of arteries and bowel is called “smooth muscle.”
Types of Muscular Dystrophy (MD)
There are many different types of muscular dystrophy (MD), each with somewhat different symptoms. Not all types cause severe disability and many don’t affect life expectancy. These can occur at different stages of life, and they progress at different rates.
Following are some of the more common types of muscular dystrophy (MD):
- Duchenne Becker (DMD): Caused by mutations in the dystrophin gene, symptoms of this normally start before age 3. It causes progressive muscle loss, and most children with the condition use a wheelchair by age 12.
- Becker (BMD): Dystrophin gene mutations also cause BMD. It is similar to DMD, but progresses more slowly and appears later.
- Myotonic (MMD or Steinert’s disease): This is the most common adult-onset form, and it usually appears between 20–30. It prevents muscles from relaxing once they contract and often begins with the face and neck muscles.
Symptoms of Muscular Dystrophy
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. Although girls can be carriers and mildly affected, it’s much more common in boys.
Signs and symptoms, which typically appear in early childhood, might include:
- Frequent falls
- Delayed growth
- Difficulty rising from a lying or sitting position
- Waddling gait
- Large calf muscles
- Learning disabilities
- Muscle aches and stiffness
- Trouble running and jumping
- Walking on the toes
As the disease progresses, the following symptoms become more likely:
- A shortening of muscles and tendons, further limiting movement
- Breathing problems that may require assisted breathing
- Curvature of the spine if the muscles are not strong enough to support its structure
- Dysphagia or difficulty swallowing, with a risk of aspiration pneumonia
- Inability to walk
- Weakening of the heart muscles, leading to cardiac problems
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 might not occur until the mid-20s or later.
Other Types of Muscular Dystrophy
Some types of muscular dystrophy are defined by a specific feature or by where in the body symptoms begin. Examples include:
- Myotonic. This is characterized by an inability to relax muscles following contractions. Facial and neck muscles are usually the first to be affected. People with this form typically have long, thin faces; drooping eyelids; and swanlike necks.
- Facioscapulohumeral (FSHD). Muscle weakness typically begins in the face, hip and shoulders. The shoulder blades might stick out like wings when arms are raised. Onset usually occurs in the teenage years but can begin in childhood or as late as age 50.
- Congenital. 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.
- Limb-girdle. Hip and shoulder muscles are usually affected first. People with this type of muscular dystrophy might have difficulty lifting the front part of the foot and so might trip frequently. Onset usually begins in childhood or the teenage years.
Causes of Muscular Dystrophy
Genetic changes cause MD, and each type is due to a different set of mutations. However, all the mutations prevent the body from producing dystrophin, a protein essential for building and repairing muscles.
Although dystrophin makes up a small percent of the total proteins in muscles, it is an essential molecule for their normal function. It glues various parts of muscle tissue together and links them to the sarcolemma, or the outer membrane.
If dystrophin is absent or deformed, this process does not work correctly. This weakens the muscles and can damage the muscle cells.
In DMD, dystrophin is almost entirely absent. Conversely, in BMD, dystrophin is smaller or in short supply.
Diagnosis of Muscular Dystrophy
Doctors can use various tests to diagnose MD:
- Biopsy: Removing a portion of the muscle and examining it under a microscope can show signs of MD.
- Enzyme assay: Damaged muscles produce creatine kinase (CK). Elevated levels of CK without other types of muscle damage could suggest MD.
- Genetic testing: Doctors can screen for the genetic mutations that occur in MD.
- Heart monitoring: Electrocardiography and echocardiograms can detect changes in the muscle of the heart. This is especially useful for diagnosing myotonic MD.
- Lung monitoring: Checking lung function can provide additional information.
- Electromyography: A doctor places a needle into the muscle to measure electrical activity. The results can show signs of muscle disease.
Treatment of Muscular Dystrophy
Currently, there is no cure for muscular dystrophy. Medications and various therapies can slow the progression of the condition and improve a person’s mobility.
Drugs
Various medications can treat MD. A doctor may prescribe:
- Anticonvulsants
- Corticosteroids
- Immunosuppressants
If a patient has DMD, they may receive injections of drugs that target certain genes. Patients with DMD have a mutation in the gene that produces dystrophin, a protein that protects and builds muscle tissue. Individuals with specific gene mutations may be eligible for this gene therapy, and researchers are working to develop new gene therapies that can halt or reverse muscle loss.
Physical Therapy
The following therapies may help an individual living with MD:
- Physical therapy: Mobility and stretching exercises can help combat the tightening of muscles and tendons, also known as contractures. Standard low impact aerobic exercises like walking and swimming can also help slow the progression of symptoms.
- Breathing assistance: As the muscles used for breathing become weaker, a person may need devices to help them breathe while they sleep. In severe cases, they may need to use a ventilator.
- Mobility aids: Canes, wheelchairs, and walkers can help a person stay mobile.
- Braces: These keep muscles and tendons stretched, slowing their shortening.
Recent Research
Although experts do not yet have a cure for MD, ongoing research into various therapies may provide hope.
Gene Replacement Therapy
Researchers have found the specific gene involved in MD. Therefore, a replacement gene to create missing dystrophin protein may help treat people with MD.
However, there are challenges with this approach, including the potential for the immune system to reject a new protein and the large size of the dystrophin gene. There are also difficulties in delivering the new gene directly to the skeletal muscle.
Drugs to Delay Muscle Wasting
Rather than target the genes causing MD, some researchers are attempting to slow the progressive muscle wasting.
In normal conditions, muscles can repair themselves. Research into controlling or increasing these repairs could benefit some people with MD.
Stem Cell Research
Researchers are analyzing the possibility of using muscle stem cells to treat muscular dystrophy. Current projects are looking at the most useful type of cells to use and ways that doctors could deliver them to skeletal muscle.
Myoblast Transplantation
During the early stages of muscular dystrophy, a type of stem-cell called myoblasts repair and replace faulty muscle fibers. Once the myoblasts wear out, the muscles slowly turn into connective tissue.
Some studies have attempted to insert modified myoblast cells into muscles to take over from the exhausted natural myoblast.
Living with Muscular Dystrophy
Living with muscular dystrophy can be challenging for people and their loved ones.
The Muscular Dystrophy Association helps those living with the condition. It provides emotional, physical, and financial support to people as they navigate their life with MD.
If a doctor diagnoses a person with muscular dystrophy, they need to understand more about living with the condition. A person or their loved ones can ask a doctor:
- How will the condition affect my life?
- What is the best-case scenario, and what is the worst?
- Which treatments are most effective for me?
- Are there clinical trials that I can participate in?
- Is it possible to have children?
- What can I expect from my body in terms of symptoms, ability to move, and function over time?
- Which healthcare professionals do I need to see?
- How can I prevent or manage complications that could arise from MD over time, such as heart problems?
Outlook of Muscular Dystrophy
The life expectancy of people with MD depends on the type and symptom severity.
In the past, people with DMD typically did not live beyond their 20s. However, new treatment options are increasing the average lifespan.
Currently, the average life expectancy for people with DMD is 31 years, but this depends on if the individual has mechanical ventilatory support as the disease progresses. Life expectancy has improved with medical advances, and many people with DMD can expect to age 40 and beyond.
Summary
Muscular Dystrophy is a group of over 30 genetic diseases affecting the muscles.
The most common type is DMD, which causes rapid muscle wasting and progressive weakness from early childhood. Although there is currently no cure for MD, medications and various therapies can slow the disease and improve a person’s quality of life.
New research aims to find treatments that can halt or reverse the disease.
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