Becker's muscular dystrophy
Encyclopedia
Becker muscular dystrophy (also known as Benign pseudohypertrophic muscular dystrophy
) is an X-linked recessive
inherited disorder characterized by slowly progressive muscle weakness of the legs and pelvis
.
It is a type of dystrophinopathy, which includes a spectrum of muscle diseases in which there is insufficient dystrophin produced in the muscle cells, results in instability in the structure of muscle cell membrane. This is caused by mutation
s in the dystrophin gene
, which encodes the protein
dystrophin
. Becker muscular dystrophy is related to Duchenne muscular dystrophy
in that both result from a mutation in the dystrophin gene, but in Duchenne muscular dystrophy no functional dystrophin is produced making DMD much more severe than BMD.
The disorder is inherited with an X-linked recessive
inheritance pattern. The gene is located on the X chromosome
. Since women have two X chromosomes, if one X chromosome has the non-working gene, the second X chromosome will have a working copy of the gene to compensate. In these cases, some women have much milder symptoms because of this ability to compensate. For example, carrier females of mutations are at increased risk for dilated cardiomyopathy
. Since men have an X and a Y chromosome and because they don't have another X to compensate for the defective gene, they will develop symptom
s if they inherit the non-working gene.
All dystrophinopathies are inherited in an X-linked recessive manner. The risk to the siblings of an affected individual depends upon the carrier status of the mother. Carrier females have a 50% chance of passing the DMD mutation in each pregnancy
. Sons who inherit the mutation will be affected; daughters who inherit the mutation will be carriers. Men who have Becker muscular dystrophy can have children, and all their daughters are carriers, but none of the sons will inherit their father's mutation. Prenatal testing through amniocentesis
or chorionic villus sampling
(CVS) for pregnancies at risk is possible if the DMD mutation is found in a family member or if informative linked markers have been identified. A significant number of Becker muscular dystrophy mutations are spontaneous and are not inherited from a parent.
Becker muscular dystrophy occurs in approximately 3 to 6 in 100,000 male births, making it much less common than Duchenne muscular dystrophy. Symptoms usually appear in men at about ages 8–25, but may sometimes begin later. Patients can lose the ability to walk as early as age 15 in the very rare severe form. Women rarely develop symptoms, but may do so due to mosaicism.
Genetic counseling
is indicated for individuals or families who may carry this condition.
People with this disorder typically experience progressive muscle weakness of the leg and pelvis muscles, which is associated with a loss of muscle mass (wasting
). Muscle weakness also occurs in the arms, neck, and other areas, but not as noticeably severe as in the lower half of the body.
Calf muscles initially enlarge during the ages of 5-15 (an attempt by the body to compensate for loss of muscle strength), but the enlarged muscle tissue is eventually replaced by fat
and connective tissue
(pseudohypertrophy) as the legs become less used (use of wheelchair).
Muscle contractions, which may be painful, occur in the legs and heels, causing inability to use the muscles because of shortening of muscle fibers and fibrosis
of connective tissue. Bone
s may develop abnormally, causing skeletal deformities of the chest and other areas.
Cardiomyopathy
(damage to the heart) does not occur as commonly with this disorder as it does with Duchenne's muscular dystrophy. Cognitive problems may or may not accompany the disorder, but they are not inevitable and do not worsen as the disorder progresses.
, but with a later, and much slower rate of progression. Noticeable signs of Muscular Dystrophy also include the lack of pectoral and upper arm muscles, especially when the disease is unnoticed through the early teen years (some men are not diagnosed with BMD until they are in their thirties). Muscle wasting begins in the legs and pelvis (or core), then progresses to the muscles of the shoulders and neck, followed by loss of arm muscles and respiratory muscles. Calf muscle enlargement (pseudohypertrophy) is quite obvious. Cardiomyopathy may occur, but the development of congestive heart failure
or arrhythmias (irregular heartbeats) is rare.
Activity is encouraged. Inactivity (such as bed rest
) or sitting down for too long on plane or car rides can worsen the muscle disease. Physical therapy
may be helpful to maintain muscle strength. Orthopedic appliances such as braces and wheelchair
s may improve mobility and self-care.
Genetic counseling
may be advisable when potential carriers or patients want to have children. Sons of a man with Becker muscular dystrophy do not develop the disorder, but daughters will be carriers (and some carriers can experience some symptoms of muscular dystrophy). The daughters' sons may develop the disorder.
Immunosuppressant steroids like Prednisone have been known to help slow the progression of Becker Muscular Dystrophy. The drug contributes to an increased production of the protein Utrophin which closely resembles Dystrophin, the protein that is defective in BMD. IVIG has proved better in the long term, but its price is a limiting factor.
A hepatitis C drug, "Debio-025", that has proven safe for use in Europe shows much promise for halting the muscle necrosis seen in the disease. The investigational drug Debio-025 is a known inhibitor of the protein cyclophilin D, which regulates the swelling of mitochondria in response to cellular injury. Researchers decided to test the drug in mice engineered to carry MD after earlier laboratory tests showed deleting a gene that encodes cycolphilin D reduced swelling and reversed or prevented the disease’s muscle-damaging characteristics. The mice were engineered as models of Duchenne muscular dystrophy and forms caused by a deficiency of two structural proteins, delta-sarcoglycan and laminin alpha2. Treatment with Debio-025 was reported to reduce mitochondrial swelling and necrotic manifestations in mice with muscular dystrophy. Debio-025 has passed Phase II clinical trials in Europe.
During the onset of muscular dystrophy, the loss of certain proteins critical to muscle function – such as dystrophin – can lead to contraction-related micro-tears in muscle fibers and an influx of calcium around muscle tissue. When this happens, cyclophilin D is instructed to make the membranes of mitochondria more permeable. This causes mitochondria to be flooded by calcium and reorganize, swell and eventually rupture. This triggers cell death in muscle fibers and leads to the progressive muscle weakness, wasting and often early death associated with muscular dystrophy.
There is another way of slowing down the symptons or altogether stopping them. Stem Cell Treatment has come a long way in providing treatments for various medical conditions including BMD. In 2009 stem cells from a Placental source were being placed in the human body by incisions and injections , most of the time with amazing results which may or may not be long term.These treatments all took place outside of North America. In 2011, the new method of using your own fatty cells and extracting and treating the stem cells found in your fatty cells and introducing them back into the body with intravenous and as well there clinics in the US specializing in this type of stem cell.
Severity of the disease may be indicated by age of patient at the onset of the disease. One study showed that there may be two distinct patterns of progression in Becker muscular dystrophy: one subgroup which experiences its onset at around age 7 to 8 years of age- this group typically has more cardiac involvement and has trouble climbing stairs by age 20; the other subgroup, which has its onset at around age 12, typically has significantly less cardiac involvement and can still easily climb stairs by age 20.
The mean age of onset is age 11, with variation from age 2 to 21.
Becker's muscular dystrophy results in slowly progressive disability, and patients eventually use a cane or wheelchair. Death can occur from age 40 but some patients enjoy a nearly normal lifespan.
, Power Soccer, and sled hockey.
Muscular dystrophy
Muscular dystrophy is a group of muscle diseases that weaken the musculoskeletal system and hamper locomotion. Muscular dystrophies are characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and tissue.In the 1860s, descriptions of boys who...
) is an X-linked recessive
X-linked recessive
X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be expressed in males and in females who are homozygous for the gene mutation X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on...
inherited disorder characterized by slowly progressive muscle weakness of the legs and pelvis
Pelvis
In human anatomy, the pelvis is the lower part of the trunk, between the abdomen and the lower limbs .The pelvis includes several structures:...
.
It is a type of dystrophinopathy, which includes a spectrum of muscle diseases in which there is insufficient dystrophin produced in the muscle cells, results in instability in the structure of muscle cell membrane. This is caused by mutation
Mutation
In molecular biology and genetics, mutations are changes in a genomic sequence: the DNA sequence of a cell's genome or the DNA or RNA sequence of a virus. They can be defined as sudden and spontaneous changes in the cell. Mutations are caused by radiation, viruses, transposons and mutagenic...
s in the dystrophin gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
, which encodes the protein
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
dystrophin
Dystrophin
Dystrophin is a rod-shaped cytoplasmic protein, and a vital part of a protein complex that connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane. This complex is variously known as the costamere or the dystrophin-associated protein complex...
. Becker muscular dystrophy is related to Duchenne muscular dystrophy
Duchenne muscular dystrophy
Duchenne muscular dystrophy is a recessive X-linked form of muscular dystrophy, which results in muscle degeneration, difficulty walking, breathing, and death. The incidence is 1 in 3,000 boys. Females and males are affected, though females are rarely affected and are more often carriers...
in that both result from a mutation in the dystrophin gene, but in Duchenne muscular dystrophy no functional dystrophin is produced making DMD much more severe than BMD.
Eponym
Becker Muscular Dystrophy is named after the German doctor Peter Emil Becker (November 23, 1908 Hamburg, Germany - 2000).Genetics
X-linked recessive
X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be expressed in males and in females who are homozygous for the gene mutation X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on...
inheritance pattern. The gene is located on the X chromosome
Chromosome
A chromosome is an organized structure of DNA and protein found in cells. It is a single piece of coiled DNA containing many genes, regulatory elements and other nucleotide sequences. Chromosomes also contain DNA-bound proteins, which serve to package the DNA and control its functions.Chromosomes...
. Since women have two X chromosomes, if one X chromosome has the non-working gene, the second X chromosome will have a working copy of the gene to compensate. In these cases, some women have much milder symptoms because of this ability to compensate. For example, carrier females of mutations are at increased risk for dilated cardiomyopathy
Dilated cardiomyopathy
Dilated cardiomyopathy or DCM is a condition in which the heart becomes weakened and enlarged and cannot pump blood efficiently. The decreased heart function can affect the lungs, liver, and other body systems....
. Since men have an X and a Y chromosome and because they don't have another X to compensate for the defective gene, they will develop symptom
Symptom
A symptom is a departure from normal function or feeling which is noticed by a patient, indicating the presence of disease or abnormality...
s if they inherit the non-working gene.
All dystrophinopathies are inherited in an X-linked recessive manner. The risk to the siblings of an affected individual depends upon the carrier status of the mother. Carrier females have a 50% chance of passing the DMD mutation in each pregnancy
Pregnancy
Pregnancy refers to the fertilization and development of one or more offspring, known as a fetus or embryo, in a woman's uterus. In a pregnancy, there can be multiple gestations, as in the case of twins or triplets...
. Sons who inherit the mutation will be affected; daughters who inherit the mutation will be carriers. Men who have Becker muscular dystrophy can have children, and all their daughters are carriers, but none of the sons will inherit their father's mutation. Prenatal testing through amniocentesis
Amniocentesis
Amniocentesis is a medical procedure used in prenatal diagnosis of chromosomal abnormalities and fetal infections, in which a small amount of amniotic fluid, which contains fetal tissues, is sampled from the amnion or amniotic sac surrounding a developing fetus, and the fetal DNA is examined for...
or chorionic villus sampling
Chorionic villus sampling
Chorionic villus sampling , sometimes misspelled "chorionic villous sampling", is a form of prenatal diagnosis to determine chromosomal or genetic disorders in the fetus. It entails sampling of the chorionic villus and testing it...
(CVS) for pregnancies at risk is possible if the DMD mutation is found in a family member or if informative linked markers have been identified. A significant number of Becker muscular dystrophy mutations are spontaneous and are not inherited from a parent.
Becker muscular dystrophy occurs in approximately 3 to 6 in 100,000 male births, making it much less common than Duchenne muscular dystrophy. Symptoms usually appear in men at about ages 8–25, but may sometimes begin later. Patients can lose the ability to walk as early as age 15 in the very rare severe form. Women rarely develop symptoms, but may do so due to mosaicism.
Genetic counseling
Genetic counseling
Genetic counseling or traveling is the process by which patients or relatives, at risk of an inherited disorder, are advised of the consequences and nature of the disorder, the probability of developing or transmitting it, and the options open to them in management and family planning...
is indicated for individuals or families who may carry this condition.
Symptoms
- Muscle weakness, slowly progressive (Difficulty running, hopping, jumping; difficulty walking. However, ability to walk may or may not continue well into adulthood
- Toe-walking (walking on toes; also known as equinus)
- Use of Gower's ManeuverGowers' signGowers' sign is a medical sign that indicates weakness of the proximal muscles, namely those of the lower limb. The sign describes a patient that has to use his hands and arms to "walk" up his own body from a squatting position due to lack of hip and thigh muscle strength.It is named for William...
or a modified form of Gower's Maneuver to get up from floor. - Frequent falls
- Difficulty breathingRespiration (physiology)'In physiology, respiration is defined as the transport of oxygen from the outside air to the cells within tissues, and the transport of carbon dioxide in the opposite direction...
- Non progressive cognitive dysfunction in rare cases. Not as common as in Duchenne Muscular Dystrophy because the brain only needs small amounts of dystrophin.
- SkeletalSkeletonThe skeleton is the body part that forms the supporting structure of an organism. There are two different skeletal types: the exoskeleton, which is the stable outer shell of an organism, and the endoskeleton, which forms the support structure inside the body.In a figurative sense, skeleton can...
deformities, chestChestThe chest is a part of the anatomy of humans and various other animals. It is sometimes referred to as the thorax or the bosom.-Chest anatomy - Humans and other hominids:...
and backBack- People :* Adam Back, British cryptographer* Charles Back, South African winemaker* Chris Back , Australian politician* Ernst Emil Alexander Back , German physicist* Frédéric Back , Canadian animator...
(scoliosisScoliosisScoliosis is a medical condition in which a person's spine is curved from side to side. Although it is a complex three-dimensional deformity, on an X-ray, viewed from the rear, the spine of an individual with scoliosis may look more like an "S" or a "C" than a straight line...
) - Muscle deformities (contractions of heelHeelIn human anatomy, the heel is the prominence at the posterior end of the foot. It is based on the projection of one bone, the calcaneus or heel bone, behind the articulation of the bones of the lower leg.- Human anatomy :...
s, legs; Pseudohypertrophy of calfCalf (anatomy)In human anatomy the calf is the back portion of the lower leg . In terms of muscle systems, the calf corresponds to the posterior compartment of the leg. Within the posterior compartment, the two largest muscles are known together as the calf muscle and attach to the heel via the Achilles tendon...
muscles) - FatigueFatigue (physical)Fatigue is a state of awareness describing a range of afflictions, usually associated with physical and/or mental weakness, though varying from a general state of lethargy to a specific work-induced burning sensation within one's muscles...
- Heart diseaseHeart diseaseHeart disease, cardiac disease or cardiopathy is an umbrella term for a variety of diseases affecting the heart. , it is the leading cause of death in the United States, England, Canada and Wales, accounting for 25.4% of the total deaths in the United States.-Types:-Coronary heart disease:Coronary...
, particularly dilated cardiomyopathyDilated cardiomyopathyDilated cardiomyopathy or DCM is a condition in which the heart becomes weakened and enlarged and cannot pump blood efficiently. The decreased heart function can affect the lungs, liver, and other body systems.... - Elevated CPKCPKCPK may refer to:*Cpk, a measure of process capability*CPK coloring, a way to color atoms when visualizing molecular models*"C.P.K." , a 1995 song by Unwritten Law from their album Blue Room*Cabbage Patch Kids*California Pizza Kitchen...
(creatine phosphokinase) levels in blood: Elevated CK levels are more common at younger ages and decreases later in life, perhaps because muscle degeneration occurs more rapidly at younger ages, when there is also more muscle mass to deteriorate.
People with this disorder typically experience progressive muscle weakness of the leg and pelvis muscles, which is associated with a loss of muscle mass (wasting
Wasting
In medicine, wasting refers to the process by which a debilitating disease causes muscle and fat tissue to "waste" away. Wasting is sometimes referred to as "acute malnutrition" because it is believed that episodes of wasting have a short duration, in contrast to stunting, which is regarded as...
). Muscle weakness also occurs in the arms, neck, and other areas, but not as noticeably severe as in the lower half of the body.
Calf muscles initially enlarge during the ages of 5-15 (an attempt by the body to compensate for loss of muscle strength), but the enlarged muscle tissue is eventually replaced by fat
Fat
Fats consist of a wide group of compounds that are generally soluble in organic solvents and generally insoluble in water. Chemically, fats are triglycerides, triesters of glycerol and any of several fatty acids. Fats may be either solid or liquid at room temperature, depending on their structure...
and connective tissue
Connective tissue
"Connective tissue" is a fibrous tissue. It is one of the four traditional classes of tissues . Connective Tissue is found throughout the body.In fact the whole framework of the skeleton and the different specialized connective tissues from the crown of the head to the toes determine the form of...
(pseudohypertrophy) as the legs become less used (use of wheelchair).
Muscle contractions, which may be painful, occur in the legs and heels, causing inability to use the muscles because of shortening of muscle fibers and fibrosis
Fibrosis
Fibrosis is the formation of excess fibrous connective tissue in an organ or tissue in a reparative or reactive process. This is as opposed to formation of fibrous tissue as a normal constituent of an organ or tissue...
of connective tissue. Bone
Bone
Bones are rigid organs that constitute part of the endoskeleton of vertebrates. They support, and protect the various organs of the body, produce red and white blood cells and store minerals. Bone tissue is a type of dense connective tissue...
s may develop abnormally, causing skeletal deformities of the chest and other areas.
Cardiomyopathy
Cardiomyopathy
Cardiomyopathy, which literally means "heart muscle disease," is the deterioration of the function of the myocardium for any reason. People with cardiomyopathy are often at risk of arrhythmia or sudden cardiac death or both. Cardiomyopathy can often go undetected, making it especially dangerous to...
(damage to the heart) does not occur as commonly with this disorder as it does with Duchenne's muscular dystrophy. Cognitive problems may or may not accompany the disorder, but they are not inevitable and do not worsen as the disorder progresses.
Signs and tests
The pattern of symptom development resembles that of Duchenne muscular dystrophyDuchenne muscular dystrophy
Duchenne muscular dystrophy is a recessive X-linked form of muscular dystrophy, which results in muscle degeneration, difficulty walking, breathing, and death. The incidence is 1 in 3,000 boys. Females and males are affected, though females are rarely affected and are more often carriers...
, but with a later, and much slower rate of progression. Noticeable signs of Muscular Dystrophy also include the lack of pectoral and upper arm muscles, especially when the disease is unnoticed through the early teen years (some men are not diagnosed with BMD until they are in their thirties). Muscle wasting begins in the legs and pelvis (or core), then progresses to the muscles of the shoulders and neck, followed by loss of arm muscles and respiratory muscles. Calf muscle enlargement (pseudohypertrophy) is quite obvious. Cardiomyopathy may occur, but the development of congestive heart failure
Congestive heart failure
Heart failure often called congestive heart failure is generally defined as the inability of the heart to supply sufficient blood flow to meet the needs of the body. Heart failure can cause a number of symptoms including shortness of breath, leg swelling, and exercise intolerance. The condition...
or arrhythmias (irregular heartbeats) is rare.
- Loss of ambulation (loss of ability to walk) may not occur until the person is in his fifties.
- Creatine kinaseCreatine kinaseCreatine kinase , also known as creatine phosphokinase or phospho-creatine kinase , is an enzyme expressed by various tissues and cell types. CK catalyses the conversion of creatine and consumes adenosine triphosphate to create phosphocreatine and adenosine diphosphate...
(CPK) levels may be elevated. - An electromyographyElectromyographyElectromyography is a technique for evaluating and recording the electrical activity produced by skeletal muscles. EMG is performed using an instrument called an electromyograph, to produce a record called an electromyogram. An electromyograph detects the electrical potential generated by muscle...
(EMG) shows that weakness is caused by destruction of muscle tissue rather than by damage to nerveNerveA peripheral nerve, or simply nerve, is an enclosed, cable-like bundle of peripheral axons . A nerve provides a common pathway for the electrochemical nerve impulses that are transmitted along each of the axons. Nerves are found only in the peripheral nervous system...
s. - Genetic testingGenetic testingGenetic testing is among the newest and most sophisticated of techniques used to test for genetic disorders which involves direct examination of the DNA molecule itself. Other genetic tests include biochemical tests for such gene products as enzymes and other proteins and for microscopic...
- A muscle biopsyBiopsyA biopsy is a medical test involving sampling of cells or tissues for examination. It is the medical removal of tissue from a living subject to determine the presence or extent of a disease. The tissue is generally examined under a microscope by a pathologist, and can also be analyzed chemically...
(immunohistochemistryImmunohistochemistryImmunohistochemistry or IHC refers to the process of detecting antigens in cells of a tissue section by exploiting the principle of antibodies binding specifically to antigens in biological tissues. IHC takes its name from the roots "immuno," in reference to antibodies used in the procedure, and...
or immunoblotting) or genetic test (blood testBlood testA blood test is a laboratory analysis performed on a blood sample that is usually extracted from a vein in the arm using a needle, or via fingerprick....
) confirms the diagnosisMedical diagnosisMedical diagnosis refers both to the process of attempting to determine or identify a possible disease or disorder , and to the opinion reached by this process...
.
Treatment
There is no known cure for Becker muscular dystrophy. Treatment is aimed at control of symptoms to maximize the quality of life.Activity is encouraged. Inactivity (such as bed rest
Bed rest
Bed rest is a medical treatment involving a period of consistent recumbence in bed. It is used as a treatment for an illness or medical condition, especially when prescribed or chosen rather than resulting from severe prostration or imminent death...
) or sitting down for too long on plane or car rides can worsen the muscle disease. Physical therapy
Physical therapy
Physical therapy , often abbreviated PT, is a health care profession. Physical therapy is concerned with identifying and maximizing quality of life and movement potential within the spheres of promotion, prevention, diagnosis, treatment/intervention,and rehabilitation...
may be helpful to maintain muscle strength. Orthopedic appliances such as braces and wheelchair
Wheelchair
A wheelchair is a chair with wheels, designed to be a replacement for walking. The device comes in variations where it is propelled by motors or by the seated occupant turning the rear wheels by hand. Often there are handles behind the seat for someone else to do the pushing...
s may improve mobility and self-care.
Genetic counseling
Genetic counseling
Genetic counseling or traveling is the process by which patients or relatives, at risk of an inherited disorder, are advised of the consequences and nature of the disorder, the probability of developing or transmitting it, and the options open to them in management and family planning...
may be advisable when potential carriers or patients want to have children. Sons of a man with Becker muscular dystrophy do not develop the disorder, but daughters will be carriers (and some carriers can experience some symptoms of muscular dystrophy). The daughters' sons may develop the disorder.
Immunosuppressant steroids like Prednisone have been known to help slow the progression of Becker Muscular Dystrophy. The drug contributes to an increased production of the protein Utrophin which closely resembles Dystrophin, the protein that is defective in BMD. IVIG has proved better in the long term, but its price is a limiting factor.
A hepatitis C drug, "Debio-025", that has proven safe for use in Europe shows much promise for halting the muscle necrosis seen in the disease. The investigational drug Debio-025 is a known inhibitor of the protein cyclophilin D, which regulates the swelling of mitochondria in response to cellular injury. Researchers decided to test the drug in mice engineered to carry MD after earlier laboratory tests showed deleting a gene that encodes cycolphilin D reduced swelling and reversed or prevented the disease’s muscle-damaging characteristics. The mice were engineered as models of Duchenne muscular dystrophy and forms caused by a deficiency of two structural proteins, delta-sarcoglycan and laminin alpha2. Treatment with Debio-025 was reported to reduce mitochondrial swelling and necrotic manifestations in mice with muscular dystrophy. Debio-025 has passed Phase II clinical trials in Europe.
During the onset of muscular dystrophy, the loss of certain proteins critical to muscle function – such as dystrophin – can lead to contraction-related micro-tears in muscle fibers and an influx of calcium around muscle tissue. When this happens, cyclophilin D is instructed to make the membranes of mitochondria more permeable. This causes mitochondria to be flooded by calcium and reorganize, swell and eventually rupture. This triggers cell death in muscle fibers and leads to the progressive muscle weakness, wasting and often early death associated with muscular dystrophy.
There is another way of slowing down the symptons or altogether stopping them. Stem Cell Treatment has come a long way in providing treatments for various medical conditions including BMD. In 2009 stem cells from a Placental source were being placed in the human body by incisions and injections , most of the time with amazing results which may or may not be long term.These treatments all took place outside of North America. In 2011, the new method of using your own fatty cells and extracting and treating the stem cells found in your fatty cells and introducing them back into the body with intravenous and as well there clinics in the US specializing in this type of stem cell.
Prognosis
The progression of Becker muscular dystrophy is highly variable—much more so than Duchenne muscular dystrophy. There is also a form that may be considered as an intermediate between Duchenne and Becker MD (mild DMD or severe BMD).Severity of the disease may be indicated by age of patient at the onset of the disease. One study showed that there may be two distinct patterns of progression in Becker muscular dystrophy: one subgroup which experiences its onset at around age 7 to 8 years of age- this group typically has more cardiac involvement and has trouble climbing stairs by age 20; the other subgroup, which has its onset at around age 12, typically has significantly less cardiac involvement and can still easily climb stairs by age 20.
The mean age of onset is age 11, with variation from age 2 to 21.
Becker's muscular dystrophy results in slowly progressive disability, and patients eventually use a cane or wheelchair. Death can occur from age 40 but some patients enjoy a nearly normal lifespan.
Quality of Life
The quality of life for patients with Becker's muscular dystrophy need not be impacted by the symptoms of the disorder. With assistive devices, independence can be maintained. People affected by Becker's muscular dystrophy can still drive, work, own businesses, start families, and maintain active lifestyles. Those affected by the disorder can also still participate in sports for the disabled, such as wheelchair tennisWheelchair Tennis
Wheelchair tennis is one of the forms of tennis adapted for those who have disabilities in their lower bodies. The size of courts, balls, and rackets are same, but there are two major differences from pedestrian tennis; they use specially designed wheelchairs and the ball may bounce up to two times...
, Power Soccer, and sled hockey.
Complications
- Deformities (particularly kyphosisKyphosisKyphosis , also called roundback or Kelso's hunchback, is a condition of over-curvature of the thoracic vertebrae...
) - Permanent, progressive disability manifested as decreased mobility or decreased ability to care for self
- Mental impairmentMental illnessA mental disorder or mental illness is a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which is not a part of normal development or culture. Such a disorder may consist of a combination of affective, behavioural,...
- However, this is much less common in BMD than it is in DMD. - CardiomyopathyCardiomyopathyCardiomyopathy, which literally means "heart muscle disease," is the deterioration of the function of the myocardium for any reason. People with cardiomyopathy are often at risk of arrhythmia or sudden cardiac death or both. Cardiomyopathy can often go undetected, making it especially dangerous to...
- Noncompaction CardiomyopathyNoncompaction cardiomyopathyNon-compaction cardiomyopathy , also called spongiform cardiomyopathy, is a rare congenital cardiomyopathy that affects both children and adults. It results from the failure of myocardial development during embryogenesis....
- Noncompaction Cardiomyopathy
- PneumoniaPneumoniaPneumonia is an inflammatory condition of the lung—especially affecting the microscopic air sacs —associated with fever, chest symptoms, and a lack of air space on a chest X-ray. Pneumonia is typically caused by an infection but there are a number of other causes...
or other respiratory infections - Respiratory failureRespiratory failureThe term respiratory failure, in medicine, is used to describe inadequate gas exchange by the respiratory system, with the result that arterial oxygen and/or carbon dioxide levels cannot be maintained within their normal ranges. A drop in blood oxygenation is known as hypoxemia; a rise in arterial...
Events
- Annual BMD Conference - Saturday August 13th, 2011 - Los Angeles at Cedars Sinai Hospital. FREE event all BMDrs are invited, must RSVP.
External links
- www.beckerMD.org - Website for BMD patients and caregivers
- Muscular Dystrophy; Becker Type; BMD - Information on Molecular Genetics in Becker Muscular Dystrophy from NCBI (OMIM)
- GeneReviews/NCBI/NIH/UW entry on Dystrophinopathies
- Muscular Dystrophy Campaign - UK charity that fights all forms of muscle disease.
- Dystrophy.com - Extensive information about muscular dystrophies
- Parent Project USA
- Muscular Dystrophy Association's website in Greece
- Life With Muscular Dystrophy