Bay Biosciences provides high quality, clinical grade, cryogenically preserved muscular dystrophy biopsy tissue samples with matched FFPE’s, K2EDTA plasma, sera (serum) and peripheral blood mononuclear cells (PBMC), bio-fluid samples from Becker’s muscular dystrophy (BMD) patients.
The K2EDTA plasma, sera (serum) and PBMC bio-fluid specimens are processed from Becker’s muscular dystrophy (BMD) patient’s peripheral whole-blood using customized collection and processing protocols.
Becker’s Muscular Dystrophy (BMD) Overview
Becker muscular dystrophy (BMD) is a genetic disease characterized by progressive muscle weakness and wasting. It is named after Peter Emil Becker, a German doctor who published the first formal reports of the disease in the 1950s.
BMD is a rare, inherited condition that causes muscle weakness that gets worse over time. It mainly affects people assigned male at birth. There’s currently no cure for the condition, so treatment involves managing symptoms and optimizing quality of life.
The muscle weakness usually begins in the patients legs and pelvis and travels up the body over time. BMD almost exclusively affects male patients to its X-linked inheritance (passed on through the mother, who is a carrier).
Patients Affected by Becker’s Muscular Dystrophy (BMD)
Becker muscular dystrophy is rare. It occurs in about 3 to 6 out of every 100,000 births and mainly affects children assigned male at birth.
Becker muscular dystrophy (BMD) mainly affects people assigned male at birth, but people assigned female at birth who are carriers for BMD can sometimes have symptoms, which are usually mild.
Symptoms most often appear between the ages of 5 and 15 years but may begin later.
Signs and Symptoms of Becker’s Muscular Dystrophy (BMD)
Symptoms of Becker muscular dystrophy (BMD) most often start between the ages of 5 and 15 years but may begin later.
BMD causes muscle weakness that gets worse over time, so common symptoms include:
- Difficulty walking up stairs
- Fatigue
- Frequent falls
- Difficulty walking that gets worse over time
- Low tolerance for exercise
- Muscle aches and/or spasms
- Toe walking
Other symptoms of BMD may include the following:
- Breathing problems
- Cardiomyopathy
- Learning differences
- Loss of balance and coordination.
Patients assigned female at birth who are carriers of BMD may only have cardiomyopathy or mild muscle weakness. Approximately 22% of carriers have symptoms, but they vary greatly.
Causes of Becker’s Muscular Dystrophy (BMD)
Becker muscular dystrophy (BMD) is in inherited condition. It’s caused by a change (mutation) in the gene that gives instructions for a protein called dystrophin. The body needs dystrophin to stabilize muscle cells.
A change in the dystrophin gene results in nonfunctional or less production of dystrophin, which causes muscle weakness and damage over time.
Genes contain codes, or recipes, for proteins, which are important biological components in all forms of life. BMD occurs when the dystrophin protein that’s made from a particular gene on the X chromosome is only partially functional.
The dystrophin protein keeps the muscle cell membrane from breaking or tearing when our muscles contract and relax. Because it connects the center of the muscle cell to the periphery, the dystrophin protein is extremely long. One end is specialized for linking to the muscle interior, and the other end for linking to a variety of proteins at the cell membrane. The long middle section, called the rod domain, is taken up by a series of repeating units called spectrin repeats.
The repeated spectrin units in the middle of the protein play an important role in linking the two ends, but the protein can still function (albeit not perfectly) with fewer of them than normal. Mutations that cause BMD decrease the number of these repeats, leading to muscle weakness.
In addition to its force-transfer role, dystrophin provides the scaffold for holding numerous molecules in place near the cell membrane. Loss of dystrophin displaces these molecules, with consequent disruptions in their functions.
While DMD mutations cause virtually no functional dystrophin to be made, people with BMD make dystrophin that is partially functional. They make a shortened form of the protein, which protects the muscles of those with BMD from degenerating as completely or as quickly as those of people with DMD.
BMD primarily affects boys and men, who inherit the disease through their mothers. Women can be carriers but usually exhibit no symptoms. For more about the way gene mutations cause BMD,
Inheritance of Becker’s Muscular Dystrophy (BMD)
BMD can run in a family, even if only one person in the biological family has it. This is because of the different ways in which genetic diseases are inherited.
BMD is inherited in an X-linked pattern. That means the gene that sometimes contains a mutation causing these diseases is on the X chromosome.
Every boy inherits an X chromosome from his mother and a Y chromosome from his father, which is what makes him male. Girls get two X chromosomes, one from each parent. Each son born to a woman with a dystrophin mutation on one of her two X chromosomes has a 50% chance of inheriting the flawed gene and having BMD. Each of her daughters has a 50% chance of inheriting the mutation and being a carrier.
Carriers usually have no disease symptoms but can have a child with the mutation or the disease. BMD carriers are at risk for cardiomyopathy.
How can a family with no history of BMD suddenly produce a child with the disease? There are two possible explanations:
- The genetic mutation leading to BMD may have existed in the females of a family for some generations without anyone knowing it. Perhaps no male children were born with the disease, or, even if a boy in an earlier generation was affected, relatives may not have known what disease he had.
- The second possibility is that the child with BMD has a new genetic mutation that arose in one of his mother’s egg cells. (Because this mutation isn’t in the mother’s blood cells, it’s impossible to detect by standard carrier testing).
If a mother gives birth to a child with BMD, there’s always the possibility that more than one of her egg cells has a dystrophin gene mutation, putting her at higher-than-average risk for passing the mutation to another child. Once the new mutation has been passed to a son or daughter, he or she can pass it to the next generation.
A man with BMD can’t pass the flawed gene to his sons because he gives a son a Y chromosome, not an X. But he’ll certainly pass it to his daughters, because each daughter inherits her father’s only X chromosome. They’ll then be carriers, and each of their sons will have a 50% chance of developing the disease, and so on.
Becker’s Muscular Dystrophy (BMD) in Females
Female patients usually don’t get get Becker’s muscular dystrophy (BMD). When a girl inherits a flawed dystrophin gene from one parent, she usually also gets a healthy dystrophin gene from her other parent, giving her enough of the protein to protect her from the disease.
Males who inherit the mutation get the disease because they have no second dystrophin gene to make up for the faulty one.
However, although girls don’t usually get the full effects of BMD, some females with the gene flaw are somewhat affected. A minority of females with the mutation are manifesting carriers, who usually have a mild form of the disorder.
For these women, a dystrophin deficiency may result in weaker muscles that fatigue easily in the back, legs, and arms. Some may even need a wheelchair or other mobility aids.
Manifesting carriers may have heart problems, which can show up as shortness of breath or inability to do moderate exercise. The heart problems, if untreated, can be quite serious, even life-threatening.
A female relative of someone with BMD can get a full range of diagnostic tests to determine her carrier status. If she’s found to be a carrier, regular strength evaluations and close cardiac monitoring can help her manage any symptoms that may arise.
For asymptomatic carriers, it is recommended to repeat cardiac assessments every three to five years; however, for carriers who develop symptoms, it is recommended to go through more frequent cardiac assessments
Diagnosis of Becker’s Muscular Dystrophy (BMD)
The diagnosis of Becker muscular dystrophy (BMD) may vary greatly. The symptoms can appear in early childhood, as early as age 5, or as late as age 60. Some of these patients don’t reach their developmental milestones and some find out that they can’t keep up during their physical education classes or during military training.
To diagnose Becker’s muscular dystrophy, a physician usually begins by taking a patient’s and their family’s history, followed by an extensive physical examination. The history and physical examination can go a long way toward making the diagnosis, even before any complicated diagnostic tests are done.
A doctor wants to determine whether a patient’s weakness results from a problem in the muscles themselves or in the nerves that control them. Problems in the muscle-controlling nerves or in motor neurons (which originate in the spinal cord and brain and reach out to all the body’s muscles) can cause weakness that looks like a muscle problem.
During the exams, the healthcare provider may find the following:
- Excessive muscle bulk in your calves (pseudohypertrophy)
- Muscle loss in your legs and pelvis
- Spinal curvature (scoliosis) and deformities of your chest
- Muscle abnormalities, including contractures (permanent tightening of your muscles, tendons and skin) of your heels and legs
Treatment of Becker’s Muscular Dystrophy (BMD)
Currently there is no specific treatment is available for Becker muscular dystrophy but quality of life and lifespan can be improved with appropriate care. Physical and occupational therapy can reduce or delay joint contractures.
Surgery is sometimes recommended to treat contractures or scoliosis. Weight control can help to reduce stress on the heart and muscles. Corticosteroids are often prescribed to help slow down the loss of muscle function. Routine monitoring by a cardiologist is recommended.
Doctors use the following treatments to manage the condition:
- Ankle or foot braces, scooters, wheelchairs, or other physical aids to help in movement
- Occupational and physical therapy
- Medication for heart problems
- Regular monitoring of the heart’s condition
- Surgery or a heart transplant in cases of severe cardiomyopathy
Healthcare providers must be careful with anesthesia, though, as it can cause complications in people with Becker muscular dystrophy.
No two patients with Becker muscular dystrophy (BMD) are exactly alike. Therefore, the health issues will be different for each individual. Living a full life with BMD may involve health care providers who know about different parts of the body all working together to address the needs of each individual.
Most patients who have Becker muscular dystrophy (BMD) receive treatments similar to those patients who have Duchenne muscular dystrophy (DMD).
It is important that a health professional be available to help coordinate care for anyone with muscular dystrophy. Depending on local services, any one of a wide range of health care professionals can serve as a coordinator of clinical care.
These health care professionals can include:
- Neurologists or pediatric neurologists
- Rehabilitation specialists
- Clinical geneticists
- Pediatricians
- Primary care physicians
The care coordinator should understand muscular dystrophy and the treatments that are needed.
Muscle Health
Muscle weakness in Becker’s muscular dystrophy usually happens at a slower rate. Patients who have BMD experience progressive muscle weakness because they do not have enough dystrophin (a protein) to help keep the muscles strong and healthy. Although every patient is different, the muscle weakness in BMD often follows a certain path.
The problems caused by muscle weakness can include difficulty learning to crawl and walk, trouble getting up off the floor, trouble climbing stairs, difficulty falling more often than other children, and difficulty with joints locking in one position.
Regular medical check-ups are important to measure how well the muscles are working, and find out if treatments are needed. Treatments can include steroid medications to maintain muscle strength as long as possible; stretching and other exercises specifically designed for patients with muscular dystrophy; braces and splints; assistive devices such as wheelchairs, computer technology, and lifting devices to help patients with BMD continue their daily activities; and surgery to prolong walking.
Steroid Medication
Health care providers can use different types of steroid medications to help maintain muscle strength as long as possible. These medications are the only ones currently available that can help slow the muscle damage caused by BMD.
A doctor might prescribe steroids when a person with BMD is still active, or when he becomes less active. Steroids can have serious side effects. It is important that patients with BMD tell all of their health care providers that they are taking steroids. This is especially important when patients who have BMD are having surgery, have an infection, or are injured.
Bone Health
Muscle weakness, lack of movement, and taking steroid medicines to help maintain muscle strength can cause bones to be weaker among patients who have Beckers muscular dystrophy (BMD).
Bone problems can include the spine curving to one or both sides, which might cause breathing difficulties; bones becoming weaker and thinner, which increases the chances of a fracture (breaking a bone); and fractures in the legs and spine. Doctors can test for bone strength and spine health, and can prescribe medications and vitamins.
Heart Health
Becker muscular dystrophy (BMD) affects muscles in the heart. As patients with the condition grow older, their heart muscles get weaker. The heart muscle becomes weak and might not pump blood into the body properly.
The heart also might beat either too fast or too slow. Patients with BMD should have their heart checked regularly. Cardiologists, (doctors who specialize in caring for the heart) can perform tests to monitor heart health. Medications can be prescribed to prevent or treat heart problems.
Breathing
As patients with Becker muscular dystrophy (BMD) grow older, the muscles that support breathing get weaker. Signs of trouble with breathing can include shortness of breath, fatigue (that is, being very tired all the time), headaches, and trouble sleeping.
Patients with BMD might have trouble breathing at night and might need to use a machine to help take a deep breath. Over time, they might find it difficult to breathe during the day, and might need a machine to help them both day and night.
As the condition progresses, the lungs become weaker. Preventing lung infections, such as pneumonia, is important for healthy breathing. It is important that patients who have BMD get vaccinations to prevent pneumonia. They also might need manual and mechanically assisted support to stimulate coughing when they have a cold or infection.
Digestion and Nutrition
Patients with BMD can have diet, nutrition, and digestion issues. These problems can change over time and include being underweight or overweight, and having swallowing problems, heartburn, and constipation (bowel movements which are infrequent, difficult, or both). Maintaining a well-balanced diet and healthy weight is important.
As they get older, people with BMD can develop swallowing problems that can cause weight loss and unhealthy eating. A doctor might recommend using a feeding tube to assist with proper nutrition.
Emotional and Mental Health
Patients with BMD might have issues that affect how they interact with others. These issues might be caused by the condition, they might be side effects of using medications to treat health issues, or they might be a result of the emotional and mental health challenges that accompany living with muscular dystrophy.
Mental and emotional issues should be addressed by a health care professional who is an expert in these conditions, such as a psychologist, psychiatrist, or social worker.
Treatment of emotional and mental health might include encouraging independence and involvement in decision making; receiving help in developing social and learning skills; receiving psychotherapy, such as individual or family therapy; or using medications for treatments.
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