Bay Biosciences provides high quality, clinical grade, cryogenically preserved skeletal muscle biopsy tissue samples with matched K2EDTA plasma, sera (serum) and peripheral blood mononuclear cells (PBMC) biofluid samples from Becker muscular dystrophy (BMD) patients.
The K2EDTA plasma, sera (serum) and PBMC biofluid specimens are processed from Becker muscular dystrophy (BMD) patient’s peripheral whole-blood using customized collection and processing protocols.
Becker Muscular Dystrophy (BMD) Overview
BMD is a chronic, progressive muscle degeneration disease. A form of muscular dystrophy that is quite similar to Duchenne muscular dystrophy, except that patients with Becker do produce some of the key protein, dystrophin, whereas those with Duchenne do not.
Becker muscular dystrophy (BMD) is an inherited muscle-wasting condition primarily affecting boys and men. It causes progressive weakness and wasting of skeletal and heart muscles.
Progression of the disease in Becker type is slower than in Duchenne, and symptoms may appear as late as the mid-twenties. According to the Centers for Disease Control and Prevention (CDC) about 14 in 100,000 patients are affected by BMD in the United States every year.
Becker muscular dystrophy is a mild version of Duchenne. Both diseases result from mutations in the huge gene in region Xp21.2 on the X chromosome that encodes dystrophin. (The other principal form of X-linked, late-onset muscular dystrophy is Emery-Dreifuss muscular dystrophy, which results from mutation in the gene encoding emerin on Xq28.)
Causes of Becker Muscular Dystrophy (BMD)
Becker muscular dystrophy occurs when there’s a change or mutation in the gene that produces dystrophin. The mutation can occur randomly, or it can be inherited from your parents. If you have this mutation, the gene produces less dystrophin than you need. Without dystrophin, your muscle cells remain unprotected and are at risk of damage.
Becker muscular dystrophy is a genetic disorder linked to the X chromosome. The dystrophin gene that causes it inhabits the X chromosome.
Because males have only one X chromosome, they’ll only receive one copy of the dystrophin gene. If they inherit the changed or mutated dystrophin gene from a parent, their body will only produce abnormal dystrophin.
Females carry two X chromosomes, meaning they’ll have two copies of the gene. Even if one X chromosome has the mutated gene, the other one can produce normal dystrophin protein.
This is why Becker muscular dystrophy affects males more often than females. Also, females tend to have milder symptoms than males.
However, females can be carriers. Even if they don’t have symptoms, they have a 50% chance of passing it on to their children without knowing it.
Signs and Symptoms of Becker Muscular Dystrophy (BMD)
Symptoms of Becker muscular dystrophy (BMD) most often start between the ages of 5 to 15 years but may begin later.
The pattern of muscle loss in BMD usually begins with the hips and pelvic area, the thighs, and the shoulders. To compensate for weakening muscles, a person with BMD may walk with a waddling gait, walk on his toes, or stick out his abdomen. The onset of symptoms may vary from 5 to 60 years of age.
BMD causes muscle weakness that gets worse over time, so common symptoms include:
- Abnormality of the lower limb
- Difficulty climbing stairs
- Elevated hepatic transaminase
- Exercise intolerance
- Fatigue
- Frequent falls
- Low tolerance for exercise
- Muscle weakness
- Myalgia, muscle aches and spasms
- Pes planus
- Skeletal muscle atrophy
- Difficulty walking that gets worse over time
- Tip-toe gait
Other symptoms of BMD may include the following:
- Breathing problems
- Cardiomyopathy
- Learning difficulties
- Loss of balance and coordination
Femal patients who are carriers of BMD may only have cardiomyopathy or mild muscle weakness. Approximately 22% of carriers have symptoms, but they vary greatly.
Risk Factors of Becker Muscular Dystrophy (BMD)
Becker muscular dystrophy is a genetic disease caused by a gene on the X chromosome that mothers carrying the gene can pass to their sons.
How Becker Muscular Dystrophy (BMD) is Inherited?
Becker muscular dystrophy (BMD) has X-linked recessive inheritance.
X-linked means the gene responsible for BMD is located on the X chromosome, one of two sex chromosomes. Genes, like chromosomes, usually come in pairs. Recessive means that when there are two copies of the responsible gene, both copies must have a disease-causing change (pathogenic variant or mutation) for a person to have the condition.
Because individuals assigned male at birth (AMAB) have one X chromosome and thus only one copy of the gene, a pathogenic variant in their one copy is enough to cause BMD.
Individuals assigned female at birth (AFAB) have two X chromosomes, a pathogenic variant for an X-linked recessive disease generally needs to occur in both copies of the gene to cause the condition.
People AFAB who have a variant in one copy of the gene are called carriers. In rare cases, people AFAB who are carriers may experience mild to moderate symptoms, but most have no symptoms.
A person AFAB who carries one X-linked gene variant has a 50% chance of having a son with BMD and a 50% chance of having a daughter who is a carrier. A person AMAB with BMD can’t pass it on to their sons, but all of their daughters will be carriers.
Diagnosis of Becker Muscular Dystrophy (BMD)
To diagnose Becker muscular dystrophy, the doctor will physically examine the patient. They will use muscle tests and lab tests. They’ll also evaluate the patient’s medical history and family history.
Doctors use the following tests to diagnose Becker muscular dystrophy:
Creatine kinase (CK) Blood Test: This test checks levels of a muscle protein called creatine phosphokinase (CPK), also called creatine kinase. When you have Becker’s muscular dystrophy, your muscle cells break down and release CPK into your blood. High levels of CPK indicate that you have the condition.
Electromyography: This involves checking the strength of electrical signals from your brain to your muscles using special needles. The needles record the electrical activity, which is displayed on a computer. Abnormal patterns indicate muscle damage.
Muscle Biopsy: A biopsy involves collecting a sample of muscle tissue, usually from the thigh, to check its dystrophin levels. If there’s no dystrophin, you have Duchenne muscular dystrophy. However, if there are small amounts of dystrophin, you have Becker muscular dystrophy.
Genetic Testing: Doctors take your tissue samples to study your genes. They check if your dystrophin gene has a change or mutation.
Western Blot Test: Doctors use this lab test to measure dystrophin levels in your muscle cells and check the severity of the disease.
If you or your child has BMD, your provider may also recommend an electrocardiogram (EKG) and echocardiogram to check for any heart muscle issues that BMD can cause.
Treatment of Becker Muscular Dystrophy (BMD)
There’s no cure for Becker muscular dystrophy. Doctors use the following treatments to manage the condition:
- Ankle or foot braces, scooters, wheelchairs, or other physical aids to help in movement
- Medication for heart problems
- Regular monitoring of the heart’s condition
- Surgery or a heart transplant in cases of severe cardiomyopathy
- Occupational and physical therapy
Doctors are very careful using anesthesia, as it can cause complications in patients with Becker muscular dystrophy.
Prognosis of Becker Muscular Dystrophy (BMD)
The prognosis (outlook) of Becker muscular dystrophy (BMD) varies. BMD leads to slowly worsening disability, but the severity of disability varies. Some people may need a wheelchair, while others may only need to use walking aids such as canes or braces.
If a patient with BMD has heart or breathing issues, their lifespan may be shortened.
Possible complications of BMD include the following:
- Bone fractures
- Heart-related problems such as cardiomyopathy
- Increasing and permanent disability that leads to a decreased ability to care for yourself
- Pneumonia or other respiratory infections
- Respiratory difficulty from weakness of breathing muscles
Life Expectancy of Patients with Becker Muscular Dystrophy (BMD)
The average life expectancy of a person with Becker muscular dystrophy is somewhat shortened and is about 40 to 50 years. Dilated cardiomyopathy (weakening of your heart muscles) is the most common cause of death.
Management of Becker Muscular Dystrophy (BMD)
For patients with Becker muscular dystrophy (BMD), it’s essential to ensure that they are getting quality medical care to prevent or treat complications of BMD, such as heart and breathing issues. They may also want to consider joining a support group to meet others who can relate to your experiences.
If you’re taking care of someone with BMD, it’s important to advocate for them to ensure they get the best medical care and access to mobility devices and therapy that can help them be more independent.
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