Becker's 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. The muscular dystrophies are a group of genetic and hereditary muscle diseases; characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and tissue. ... A mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be expressed in males who are hemizygous for the gene mutation (i. ... Human male pelvis, viewed from front Human female pelvis, viewed from front The pelvis is the bony structure located at the base of the spine (properly known as the caudal end). ...

It is a type of dystrophinopathy, which includes a spectrum of muscle diseases caused by mutations in the DMD gene, which encodes the protein dystrophin. Becker's muscular dystrophy is a milder form of Duchenne's muscular dystrophy. Both Duchenne and Becker's muscular dystrophy are X-linked recessive diseases. Becker's is named after the German doctor Peter Emil Becker. This article is about mutation in biology, for other meanings see: mutation (disambiguation). ... This stylistic schematic diagram shows a gene in relation to the double helix structure of DNA and to a chromosome (right). ... A representation of the 3D structure of myoglobin, showing coloured alpha helices. ... Dystrophin is a protein found in membranes surrounding individual muscle fibers, and its deficiency is one of the root causes of muscular dystrophy. ...

Genetics

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 symptoms if they inherit the non-working gene. X-linked Recessive inheritance From http://ghr. ... A mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be expressed in males who are hemizygous for the gene mutation (i. ... Figure 1: Chromosome. ... Cardiomyopathy is the deterioration of the cardiac muscle of the heart wall. ... The term symptom (from the Greek syn = con/plus and pipto = fall, together meaning co-exist) has two similar meanings in the context of physical and mental health: A symptom can be a physical condition which shows that one has a particular illness or disorder (see e. ...

All dystrophinopathes 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's musculary 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 pregnant woman Pregnancy is the process by which a mammalian female carries a live offspring from conception until it develops to the point where the offspring is capable of living outside the womb. ... Prenatal diagnosis is the diagnosis of disease or condition in a fetus or embryo before it is born. ... Amniocentesis is a medical procedure used for prenatal diagnosis, in which a small amount of amniotic fluid is extracted from the amnion around a developing fetus. ... Chorionic villus sampling (CVS) is a form of prenatal diagnosis to determine genetic abnormalities in the fetus. ...

Becker's muscular dystrophy occurs in approximately 3 to 6 in 100,000 male births. Symptoms usually appear in men at about age 12, but may sometimes begin later. The average age of becoming unable to walk is 25-30. Women rarely develop symptoms.

Genetic counseling is indicated for individuals or families who may carry this condition. Genetic counseling generally refers to prenatal counseling done when a genetic condition is suspected in a pregnancy. ...

Symptoms

1. Muscle weakness, slowly progressive (Difficulty running, hopping, jumping; Progressive difficulty walking)
2. Ability to walk may continue into adulthood (up to age 40)
3. Frequent falls
4. Difficulty breathing
5. Cognitive dysfunction
6. Skeletal deformities, chest and back (scoliosis)
7. Muscle deformities (contractures of heels, legs; Pseudohypertrophy of calf muscles)
8. Fatigue
9. Heart disease

People with this disorder experience progressive muscle weakness of the legs and pelvis, which is associated with a loss of muscle mass (wasting). Muscle weakness also occurs in the arms, neck, and other areas, but not as severely as in the lower half of the body. See Adult. ... Respiration can refer to: Cellular respiration, which is the use of oxygen in the metabolism of organic molecules. ... Skeleton is also a winter sport: see skeleton (sport). ... This article is in need of attention. ... Wiktionary has a definition of: Back In anatomy, the back usually refers to the posterior side of the torso in humans and other primates. ... Scoliosis is a disease which involves a lateral curvature of the spine; that is, the spine is bent sideways. ... The heel is the prominence at the posterior end of the foot. ... Categories: Animal stubs ... Fatigue is a feeling of excessive tiredness or lethargy, with a desire to rest, perhaps to sleep. ... Coronary heart disease (CHD), also called coronary artery disease (CAD) and atherosclerotic heart disease, is the end result of the accumulation of atheromatous plaques within the walls of the arteries that supply the myocardium (the muscle of the heart). ... In medical circles, wasting refers to the process by which a debilitating disease causes muscle and fat tissue to waste away. ...

Calf muscles initially enlarge (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). In biochemistry, fat is a generic term for a class of lipids. ... Connective tissue is any type of biological tissue with an extensive extracellular matrix. ...

Muscle contractures occur in the legs and heels, causing inability to use the muscles because of shortening of muscle fibers and fibrosis of connective tissue. Bones develop abnormally, causing skeletal deformities of the chest and other areas. Fibrosis is the formation or development of excess fibrous connective tissue in an organ or tissue as a reparative or reactive process, as opposed to formation of fibrous tissue as a normal constituent of an organ or tissue. ... Grays illustration of a human femur, a typically recognized bone. ...

Cardiomyopathy (damage to the heart) does not occur as commonly with this disorder as it does with Duchenne's muscular dystrophy. Cognitive problems may accompany the disorder, but they are not inevitable and do not worsen as the disorder progresses. Cardiomyopathy is the deterioration of the cardiac muscle of the heart wall. ...

Signs and tests

The pattern of symptom development resembles that of Duchenne's muscular dystrophy, but with a much slower rate of progression. Muscle wasting begins in the legs and pelvis, 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. Congestive heart failure (CHF) (also called heart failure) is the inability of the heart to pump blood effectively to the body, or requiring elevated filling pressures in order to pump effectively. ... A cardiac arrhythmia, also called cardiac dysrhythmia, is a disturbance in the regular rhythm of the heartbeat. ...

• The ability to walk may continue to age 40 or older.
• Creatine_kinase (CPK) levels may be elevated.
• An electromyography (EMG) shows that weakness is caused by destruction of muscle tissue rather than by damage to nerves.
• Genetic testing
• A muscle biopsy or genetic test (blood test) confirms the diagnosis.

Creatine Kinase Creatine kinase (CK), also known as phosphocreatine kinase or creatine phosphokinase (CPK) is an enzyme (EC 2. ... Electromyography (EMG) is a medical technique for measuring muscle response to nervous stimulation. ... A nerve is an enclosed, cable-like bundle of nerve fibers or axons, which includes the glia that ensheath the axons in myelin. ... Genetic testing allows the genetic diagnosis of vulnerabilities to inherited diseases, and can also be used to determine a persons ancestry. ... A biopsy (in Greek: bios = life and opsy = look/appearance) is a medical test involving the removal of cells or tissues for examination. ... Blood tests are laboratory tests done on blood to gain an appreciation of disease states and the function of organs. ... Diagnosis (from the Greek words dia = by and gnosis = knowledge) is the process of identifying a disease by its signs, symptoms and results of various diagnostic procedures. ...

Treatment

There is no known cure for Becker's muscular dystrophy. Treatment is aimed at control of symptoms to maximize the quality of life.

Activity is encouraged. Inactivity (such as bed rest) can worsen the muscle disease. Physical therapy may be helpful to maintain muscle strength. Orthopedic appliances such as braces and wheelchairs may improve mobility and self-care. Physical therapy can help restore lost functionality in many people. ... Orthopedic surgery or orthopedics (BE: orthopaedics) is the branch of surgery concerned with acute, chronic, traumatic and recurrent injuries and other disorders of the locomotor system, its musclular and bone parts. ... Wheelchair seating A wheelchair is a device used for mobility by people for whom walking is difficult or impossible, due to illness or disability. ...

Genetic counseling may be advisable. Sons of a man with Becker's muscular dystrophy do not develop the disorder, but daughters may be carriers. The daughters' sons may develop the disorder.

Support Groups

The stress of illness can often be helped by joining a support group where members share common experiences and problems. Support groups exist to combat or legitimise conditions or behaviours. ...

Expectations (prognosis)

Becker's muscular dystrophy results in slowly progressive disability. Death usually occurs in the fifth decade but some patients live to an advanced age. Prognosis (Greek: foreseeing) is a medical term denoting the doctors prediction of how a patients disease will progress, and whether there is chance of recovery. ...

Complications

• Deformities
• Permanent, progressive disability manifested as decreased mobility or decreased ability to care for self
• Mental impairment
• Cardiomyopathy
• Pneumonia or other respiratory infections
• Respiratory failure

This article contains material from the CDC (Center for Disease Control) website (http://www.cdc.gov/) which, as a US government publication, is in the public domain. The Scream, the famous painting commonly thought of as depicting the experience of mental illness. ... Pneumonia (the ancient Greek word for lungs) is defined as an infection involving the alveoli of the lungs. ... Respiratory failure is a medical term for inadequate gas exchange by the respiratory system. ... The public domain comprises the body of all creative works and other knowledge—writing, artwork, music, science, inventions, and others—in which no person or organization has any proprietary interest. ...