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 biofluid specimens are processed from muscular dystrophy (MD) patient’s peripheral whole-blood using customized collection and processing protocols.
Fresh frozen tissue and matched biofluid samples are collected from unique patients diagnosed with muscular dystrophy (MD).
Bio-samples are provided to a valued pharmaceutical customer for research, diagnostics, discovery and drug development.
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.
Depending on the type and severity of a person’s MD, the effects can be mild, progressing slowly over an average life span. In other cases, it can be aggressive, progressing quickly and shortening a patient’s life.
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.
- Distal Muscular Dystrophy: This type of muscular dystrophy typically begins in adulthood. It affects the feet hands, lower legs, and lower arms. It can also affect the heart.
- Emery-Dreiffuss Muscular Dystrophy: It mostly affects children. Children may experience weak shoulders, upper arms, and calf muscles, by the age of 10.
- Facioscapulohumeral Muscular Dystrophy: It is the third most common form of muscular dystrophy. The disease affects muscles in the face, shoulder blades, and upper arms. The onset of this type is before 20 years of age.
- 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.
- Congenital (CMD): This type appears from birth to age two and affects all genders. Some forms progress slowly, while others can move rapidly and cause significant disability.
- Limb-girdle (LGMD): This MD begins in childhood or the teenage years. Individuals with the limb-girdle MD might have trouble raising the front part of the foot, making tripping a common problem.
- Oculopharyngeal (OPMD): This usually appears after age 40. It affects the eyelids, throat, and face first, then the shoulders and pelvis.
Causes of Muscular Dystrophy (MD)
Muscular dystrophy (MD) is caused by changes (mutations) in the genes responsible for the structure and functioning of a patient’s muscles.
Muscles are made up of bundles of fiber. Within each muscle fiber are clusters of myofibrils, which are the building blocks of muscle that allow them to contract.
In addition to myofibrils, muscle fibers contain different types of proteins that work together to strengthen and protect the muscles from injury during the process of contraction and relaxation.
The mutations cause changes in the muscle fibers that interfere with the muscles’ ability to function. Over time, this causes increasing disability.
In muscular dystrophy the mutations are usually inherited from the patient’s parents. If you have a family history of MD, your doctor will refer you for genetic testing and counselling to evaluate the risk of developing the disease and to discuss the options available to you.
Genetic mutations prevent the body from producing dystrophin, a protein essential for building and repairing the muscles.
Role of Dystrophin
Dystrophin is an important protein present in muscle fibers. The absence of dystrophin leads to the development of Duchenne muscular dystrophy. When there are faults in the production of dystrophin, Becker muscular dystrophy occurs.
Abnormalities in other proteins in muscle fibers are thought to cause the other forms of muscular dystrophy.
Although dystrophin makes up a small percent of the total proteins in the 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.
Genetics of Muscular Dystrophy (MD)
There are three types of inheritance patterns in patients with muscular dystrophy.
X-linked Recessive: In this case the genetic anomaly that causes muscular dystrophy lies on the X chromosome. Therefore, only boys are affected. They would have received the faulty X chromosome from their mothers, who carry the gene but do not have the disease. Duchenne, Becker, and Emery-Dreifuss are examples of X-linked recessive muscular dystrophy.
Autosomic Recessive: In this type of inherited muscular dystrophy, the faulty gene is passed down from both parents, neither of whom will have symptoms of the disease. Their children (of either sex) will have a 25% chance of developing muscular dystrophy. An example of autosomic recessive muscular dystrophy is Limble-Girdle Dystrophy Type 2.
Autosomic Dominant: In this form of muscular dystrophy, the faulty gene comes from one parent and can affect half of their offspring regardless of sex. The affected parent often has clinical manifestations of the disease but these may be so mild as to be unnoticeable. Myotonic, facioscapulohumeral, and oculopharyngeal dystrophies are examples of autosomic dominant dystrophies.
Signs and Symptoms of of Muscular Dystrophy (MD)
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.
Muscle weakness is the primary symptom of muscular dystrophy. Depending on the type, the disease affects different muscles and parts of the body.
Following are some of the signs and symptoms of muscular dystrophy:
- Abnormal walking gait (like waddling)
- Breathing problems
- Curved spine (scoliosis)
- Cardiovascular diseases such as heart failure (cardiomyopathy), and arrhythmia
- Difficulty walking or running
- Dysphagia (trouble swallowing)
- Enlarged calf muscles
- Learning disabilities
- Muscle Pain
- Stiff or loose joints
Life Expectancy of Muscular Dystrophy (MD)
In the past it was common for patients with muscular dystrophy to live up until their teen years or twenties shortly thereafter.
But with recent advancements in cardiac and respiratory care, life expectancy for muscular dystrophy is increasing. Now a days it is more common to see patients with muscular dystrophy go on to live into their 30s. Currently, the average life expectancy for people with DMD is 31 years.
This depends on if the individual has mechanical ventilatory support as the disease progresses. Life expectancy has improved with medical advances, and many patients with muscular dystrophy (MD) can expect to age 40 and beyond.
Risk Factors of Muscular Dystrophy (MD)
Since there is a genetic factor for acquiring muscular dystrophy, there is no lifestyle change that you can make to decrease your likelihood of getting it.
If the genetic makeup is there and active in specific chromosomes in your body, you may get muscular dystrophy.
However, researchers have identified risk factors for complications and early death for those who already have muscular dystrophy.
In a 2017 study published in the Journal of the American Heart Association, researchers identified three common risk factors that were present in people with Duchenne muscular dystrophy associated with cariomyopathy who experienced poor outcomes including early death.
These included:
- Being underweight as measured by the body mass index (BMI)
- Having poor lung function
- Having a high blood concentration of a protein linked to cardiac damage
Diagnosis of Muscular Dystrophy (MD)
A doctor is likely to start with a medical history and physical examination. To reach definitive diagnosis of muscular dystrophy (MD) following tests are performed:
- Blood Tests: Blood works can check for levels of certain enzymes that muscles release when they are damaged.
- Enzyme assay: Damaged muscles produce creatine kinase (CK). Elevated levels of CK without other types of muscle damage could suggest muscular dystrophy (MD).
- Genetic testing: Doctors can screen for the genetic mutations that occur in muscular dystrophy (MD). Genetic tests can help diagnose the condition, but they’re also important for people with a family history of the disease who are planning to start a family.
- Heart monitoring: Electrocardiography and echocardiograms can detect changes in the muscle of the heart. This is especially useful for diagnosing myotonic muscular dystrophy (MD).
- Lung monitoring: Checking lung function can provide additional information.
- Electromyography (EMG): A doctor places a needle into the muscle to measure electrical activity. The results can show signs of muscle disease.
- Muscle biopsy: Removing a portion of the muscle and examining it under a microscope can show signs of MD.
- Imaging tests: Magnetic resonance imaging (MRI) uses powerful magnets and radio waves to make pictures of their organs. This can show the quality and amount of muscle in the body.
- Ultrasound: This procedure uses sound waves to make pictures (images) of the inside of the body.
Treatment of Muscular Dystrophy (MD)
There is no cure for muscular dystrophy (MD). But there are many treatments that can manage and improve symptoms and make life easier for the patients with MD.
Treatment for some forms of the disease can help extend the time a patient with muscular dystrophy (MD). So they can remain mobile and get help with heart and lung muscle strength.
The doctors will recommend a treatment based on the type of muscular dystrophy a patient has. Following are some of the treatments used to treat muscular dystrophy:
- Physical Therapy: Physical therapy helps MD patients by using different exercises and stretches to keep muscles strong and flexible.
- Occupational Therapy: OT can help MD patients on how to make the most of what their muscles can do. Therapists can also show them how to use wheelchairs, braces, and other devices that can help them with daily life.
- Speech Therapy: Speech therapy assists MD patients with the speech and teach them easier ways to talk if their throat or face muscles are weak.
- Respiratory Therapy: This can help if the patient with muscular dystrophy is having trouble breathing. They’ll learn ways to make it easier to breathe, or get machines to help.
Medication
Following are some of the medicines used for the treatment of muscular dystrophy:
- Anti-seizure dugs that reduce muscle spasm.
- Blood pressure medicine that help manage heart problems.
- 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.
- Eteplirsen (Exondys 51), golodirsen (Vyondys53), and vitolarsen (Viltepso) for treating DMD. These are injection medications that help treat muscular dystrophy (MD) patients who have a specific mutation of the gene that leads to DMD, specifically by increasing dystrophin production.
Surgery
Surgical procedures can help with different complications of muscular dystrophy, like heart problems or trouble swallowing.
Treatment options vary, depending on the type of muscular dystrophy. For example, people with myotonic muscular dystrophy may need surgery to remove cataracts, which is when the lens of the eye becomes clouded, interfering with vision.
Patients who have Emery-Dreifuss muscular dystrophy or myotonic muscular dystrophy may need surgery to implant a pacemaker or cardiac defibrillators to manage abnormal heart rhythm conditions.
Spinal Fusion Surgery
Patient with muscular dystrophy may develop scoliosis, a condition that causes the spine to curve in an abnormal way and may lead to disability. Scoliosis can affect both children and adult patients.
Spinal fusion surgery is an effective way to straighten and stabilize the bones of the spine, called vertebrae. Straightening the spine also helps to preserve lung function.
In this procedure, a surgeon will use wires, screws, rods, and bone grafts, which are small pieces of bone taken from other parts of the body, to permanently join the vertebrae. New bone eventually grows over the graft. It may take several months to a few years for the bones to fuse completely.
Tendon Release Surgery
When muscles and tendons harden, shorten, and contract, they can make joints rigid and affect their growth and movement. Soft tissue release surgery involves making an incision in affected muscles, tendons, or ligaments to release them from the joints, allowing people with muscular dystrophy to move more freely and comfortably.
This surgery is often performed in children on the Achilles tendon. This tendon is made of thick, inflexible fibers, which sometimes need to be cut to allow for a thorough repositioning of the foot.
Bay Biosciences is a global leader in providing researchers with high quality, clinical grade, fully characterized human tissue samples, bio-specimens and human bio-fluid collections.
Samples available are cancer (tumor) tissue, cancer serum, cancer plasma cancer PBMC and human tissue samples from most other therapeutic areas and diseases.
Bay Biosciences maintains and manages its own bio-repository, human tissue bank (biobank) consisting of thousands of diseased samples (specimens) and from normal healthy donors available in all formats and types.
Our biobank procures and stores fully consented, deidentified and institutional review boards (IRB) approved human tissue samples and matched controls.
All our human tissue collections, human specimens and human bio-fluids are provided with detailed samples associated patient’s clinical data.
This critical patient’s clinical data includes information relating to their past and current disease, treatment history, lifestyle choices, biomarkers and genetic information.
Patient’s data is extremely valuable for researchers and is used to help identify new effective treatments (drug discovery & development) in oncology, other therapeutic areas and diseases.
Bay Biosciences banks wide variety of human tissue samples and biological samples including cryogenically preserved at – 80°C.
Including fresh frozen tissue samples, tumor tissue samples, FFPE’s, tissue slides, with matching human bio-fluids, whole blood and blood derived products such as serum, plasma and PBMC’s.
Bay Biosciences is a global leader in collecting and providing human tissue samples according to the researchers specified requirements and customized, tailor-made collection protocols.
Please contact us anytime to discuss your special research projects and customized human tissue sample requirements.
Bay Biosciences provides human tissue samples (human specimens) from diseased and normal healthy donors which includes:
- Peripheral whole-blood,
- Amniotic fluid
- Bronchoalveolar lavage fluid (BAL)
- Sputum
- Pleural effusion
- Cerebrospinal fluid (CSF)
- Serum (sera)
- Plasma
- Peripheral blood mononuclear cells (PBMC’s)
- Saliva
- Buffy coat
- Urine
- Stool samples
- Aqueous humor
- Vitreous humor
- Kidney stones (renal calculi)
- Other bodily fluids from most diseases including cancer.
We can also procure most human bio-specimens and can-do special collections and requests of human samples that are difficult to find. All our human tissue samples are procured through IRB approved clinical protocols and procedures.
In addition to the standard processing protocols Bay Biosciences can also provide human plasma, serum, PBMC bio-fluid samples using custom processing protocols, you can buy donor specific sample collections in higher volumes and specified sample aliquots from us.
Bay Biosciences also provides human samples from normal healthy donors, volunteers, for controls and clinical research, contact us Now.
日本のお客様は、ベイバイオサイエンスジャパンBay Biosciences Japanまたはhttp://baybiosciences-jp.com/contact/までご連絡ください。