Other noticeable symptoms besides weakness are falling, feeling "worn out," and changes in the skeletal system. Few affected have learning problems, but these cases are typically minor. What causes Becker Muscular Dystrophy? The cause of BMD is related to a deformity of a gene on the X chromosome therefore, females are the carriers of this defect.
This fault produces a protein called dystrophia that does not work the way it should within muscle fibers. This causes the fibers to gradually weaken and wear away.
Who gets Becker Muscular Dystrophy? Boys are affected almost exclusively and every ethnic background is affected. In a group of , people, approximately 3 will be affected with BMD Some patients who have BMD can live a normal lifespan, however most die sometime after the age of How is Becker Muscular Dystrophy diagnosed? BMD can often be misdiagnosed as limb-girdle muscular dystrophy or as spinal muscular dystrophy.
Blood tests can be performed if it is known that BMD runs in the family. The needle EMG will show that the muscle weakness is due to a problem with the muscles versus problems with nerves. How is Becker Muscular Dystrophy treated? The treatment of BMD focuses on lessening the symptoms associated with it. There is no cure, but treatments are available to help with symptoms and maximize muscle function. It is vital that a person with BMD stay in shape and continue to use their muscles.
This can include physical therapy. Treatment can also include genetic counseling, using splints, massages, and catabolic steroids. It is probable that the person will eventually require a wheelchair. Search for:. Careers Job Seekers Employers Fellowships. Blood tests : Genetic blood tests can reveal the gene mutation responsible for Becker muscular dystrophy. They can also measure the presence of creatine kinase, an enzyme that forms when muscle tissue breaks down.
This substance is elevated in muscular dystrophy and inflammatory conditions. Muscle biopsy : For those children who have clinical evidence of Duchenne muscular dsytrophy but who do not show one of the common mutations, a small sample of muscle tissue is taken and examined under a microscope to confirm the diagnosis.
Electromyogram: This test checks to see if the muscle weakness is a result of destruction of muscle tissue rather than nerve damage. The heart comprises mostly muscle, and therefore it is affected by muscular dystrophy. Becker muscular dystrophy can cause cardiomyopathy , a weakening of the heart muscles, which, if unaddressed, can lead to heart failure and the need for a transplant. There is not a cure for Becker muscular dystrophy at present. A doctor may prescribe steroid medications to help individuals remain able to walk for as long as possible.
The clinical course of Becker muscular dystrophy is variable. Some people may require a wheelchair by the time they reach their 30s; others may be able to continue walking with or without a cane for many years. A multidisciplinary team of specialists with experience in treating Becker muscular dystrophy can help address symptoms:. Abnormal urinary colour.
Abnormal urine color. Difficulty walking up stairs. Difficulty in walking. Elevated blood creatine phosphokinase. Elevated circulating creatine phosphokinase. Elevated creatine kinase. Elevated serum CPK. Elevated serum creatine phosphokinase.
High serum creatine kinase. Increased CPK. Increased creatine kinase. Increased creatine phosphokinase. Increased serum CK. Increased serum creatine kinase. Increased serum creatine phosphokinase. Decreased ability to exercise. Inability to exercise. Muscle ache. Muscle pain. High liver enzymes.
Muscular weakness. Flat feet. Flat foot. Muscle degeneration. Muscle wasting. Abnormal ECG. Symptoms begin in adulthood. Abnormal heart rate. Heart rhythm disorders. Irregular heart beat. Irregular heartbeat. Disease of the heart muscle. Decreased reflex response. Decreased reflexes. Do you have more information about symptoms of this disease? We want to hear from you.
Cause Cause. The DMD gene gives the body instructions to make a protein called dystrophin. This protein helps stabilize and protect muscle fibers and may play a role in chemical signaling within cells. Mutations that lead to an abnormal "version" of dystrophin that allow it to keep some of its function usually cause BMD.
Muscle cells without fully functional dystrophin become damaged as muscles contract and relax with use. They then weaken and die over time, leading to the muscle weakness and heart problems in people with BMD.
Inheritance Inheritance. Becker muscular dystrophy is inherited in an X-linked recessive manner. A condition is considered X-linked if the mutated gene that causes the condition is located on the X chromosome , one of the two sex chromosomes.
In males who have only one X chromosome , one mutated copy of the gene in each cell is enough to cause the condition. In females who have two X chromosomes , a mutation must be present in both copies of the gene to cause the condition. Males are affected by X-linked recessive disorders much more frequently than females. A specific characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. Female carriers usually do not have signs or symptoms of the condition.
Occasionally, females who carry a DMD mutation may have muscle weakness and cramping. These symptoms are typically milder than the severe muscle weakness and wasting in affected males.
Females who carry a DMD mutation also have an increased risk to develop heart problems, including dilated cardiomyopathy. The other third of cases probably result from new mutations in the gene. Diagnosis Diagnosis. Healthcare providers will often conduct neurological and muscle exams, as well as order specific laboratory tests.
A careful medical history is also important to differentiate between BMD and Duchenne muscular dystrophy. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Treatment Treatment. There is currently no cure for Becker muscular dystrophy BMD , and management aims to help with symptoms and improve the quality of life.
Affected people are encouraged to remain active, because inactivity such as bed rest can make the muscle disease worse. Surgery may be needed for progressive scoliosis and development of contractures.
Cardiac heart evaluations are recommended beginning at around 10 years old, or when symptoms first begin. Evaluations should be repeated at least every two years. Cardiovascular health supervision for individuals affected by Duchenne or Becker Muscular Dystrophy. Pediatrics ;
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