|
Dystrophinopathy
Dystrophinopathy refers to a spectrum of diseases due to mutations in the ''DMD'' gene, which encodes for the dystrophin protein found in muscle. The severe end of the spectrum includes Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and ''DMD''-associated dilated cardiomyopathy. The mild end of the spectrum includes asymptomatic increases in serum creatine kinase and muscle cramps with myoglobinuria. Because dystrophin is located on the X chromosome The X chromosome is one of the two sex-determining chromosomes (allosomes) in many organisms, including mammals (the other is the Y chromosome), and is found in both males and females. It is a part of the XY sex-determination system and XO sex ..., dystrophinopathy mainly affects males, whereas females range from being carriers, to having delayed-onset and mild disease, to having severe DMD. References {{Muscular dystrophy Muscular dystrophy ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neurology
Neurology (from el, wikt:νεῦρον, νεῦρον (neûron), "string, nerve" and the suffix wikt:-logia, -logia, "study of") is the branch of specialty (medicine), medicine dealing with the diagnosis and treatment of all categories of conditions and disease involving the brain, the spinal cord and the peripheral nerves. Neurological practice relies heavily on the field of neuroscience, the scientific study of the nervous system. A neurologist is a physician specializing in neurology and trained to investigate, diagnose and treat neurological disorders. Neurologists treat a myriad of neurologic conditions, including stroke, seizures, movement disorders such as Parkinson's disease, autoimmune neurologic disorders such as multiple sclerosis, headache disorders like migraine and dementias such as Alzheimer's disease. Neurologists may also be involved in clinical research, clinical trials, and basic research, basic or translational research. While neurology is a nonsurgical sp ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy that primarily affects boys. Muscle weakness usually begins around the age of four, and worsens quickly. Muscle loss typically occurs first in the thighs and pelvis followed by the arms. This can result in trouble standing up. Most are unable to walk by the age of 12. Affected muscles may look larger due to increased fat content. Scoliosis is also common. Some may have intellectual disability. Females with a single copy of the defective gene may show mild symptoms. The disorder is X-linked recessive. About two thirds of cases are inherited from a person's mother, while one third of cases are due to a new mutation. It is caused by a mutation in the gene for the protein dystrophin. Dystrophin is important to maintain the muscle fiber's cell membrane. Genetic testing can often make the diagnosis at birth. Those affected also have a high level of creatine kinase in their blood. Although there is no know ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Becker Muscular Dystrophy
Becker muscular dystrophy is an X-linked recessive inherited disorder characterized by slowly progressing muscle weakness of the legs and pelvis. It is a type of dystrophinopathy. This is caused by mutations 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 has a milder course. Signs and symptoms Some symptoms consistent with Becker muscular dystrophy are: Individuals 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 connect ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dilated Cardiomyopathy
Dilated cardiomyopathy (DCM) is a condition in which the heart becomes enlarged and cannot pump blood effectively. Symptoms vary from none to feeling tired, leg swelling, and shortness of breath. It may also result in chest pain or fainting. Complications can include heart failure, heart valve disease, or an irregular heartbeat. Causes include genetics, alcohol, cocaine, certain toxins, complications of pregnancy, and certain infections. Coronary artery disease and high blood pressure may play a role, but are not the primary cause. In many cases the cause remains unclear. It is a type of cardiomyopathy, a group of diseases that primarily affects the heart muscle. The diagnosis may be supported by an electrocardiogram, chest X-ray, or echocardiogram. In those with heart failure, treatment may include medications in the ACE inhibitor, beta blocker, and diuretic families. A low salt diet may also be helpful. In those with certain types of irregular heartbeat, blood thinners or ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 (DAPC). Many muscle proteins, such as α-dystrobrevin, syncoilin, synemin, sarcoglycan, dystroglycan, and sarcospan, colocalize with dystrophin at the costamere. It has a molecular weight of 427 kDa Dystrophin is coded for by the ''DMD'' gene – the largest known human gene, covering 2.4 megabases (0.08% of the human genome) at locus Xp21. The primary transcript in muscle measures about 2,100 kilobases and takes 16 hours to transcribe; the mature mRNA measures 14.0 kilobases. The 79-exon muscle transcript codes for a protein of 3685 amino acid residues. Spontaneous or inherited mutations in the dystrophin gene can cause different forms of muscular dystrophy, a disease characterized by p ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Creatine Kinase
Creatine kinase (CK), also known as creatine phosphokinase (CPK) or phosphocreatine kinase, is an enzyme () expressed by various tissues and cell types. CK catalyses the conversion of creatine and uses adenosine triphosphate (ATP) to create phosphocreatine (PCr) and adenosine diphosphate (ADP). This CK enzyme reaction is reversible and thus ATP can be generated from PCr and ADP. In tissues and cells that consume ATP rapidly, especially skeletal muscle, but also brain, photoreceptor cells of the retina, hair cells of the inner ear, spermatozoa and smooth muscle, PCr serves as an energy reservoir for the rapid buffering and regeneration of ATP ''in situ'', as well as for intracellular energy transport by the PCr shuttle or circuit. Thus creatine kinase is an important enzyme in such tissues. Clinically, creatine kinase is assayed in blood tests as a marker of damage of CK-rich tissue such as in myocardial infarction (heart attack), rhabdomyolysis (severe muscle breakdown), muscular ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Myoglobinuria
Myoglobinuria is the presence of myoglobin in the urine, which usually results from rhabdomyolysis or muscle injury. Myoglobin is present in muscle cells as a reserve of oxygen. Signs and symptoms Signs and symptoms of myoglobinuria are usually nonspecific and needs some clinical prudence. Therefore, among the possible signs and symptoms to look for would be: *Swollen and painful muscles *Fever, nausea *Delirium (elderly individuals) *Myalgia * Dark urine * Calcium ion loss Causes Trauma, vascular problems, malignant hyperthermia, certain drugs and other situations can destroy or damage the muscle, releasing myoglobin to the circulation and thus to the kidneys. Under ideal situations myoglobin will be filtered and excreted with the urine, but if too much myoglobin is released into the circulation or in case of kidney problems, it can occlude the kidneys' filtration system leading to acute tubular necrosis and acute kidney injury. Other causes of myoglobinuria include: *Mc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
X Chromosome
The X chromosome is one of the two sex-determining chromosomes (allosomes) in many organisms, including mammals (the other is the Y chromosome), and is found in both males and females. It is a part of the XY sex-determination system and XO sex-determination system. The X chromosome was named for its unique properties by early researchers, which resulted in the naming of its counterpart Y chromosome, for the next letter in the alphabet, following its subsequent discovery. Discovery It was first noted that the X chromosome was special in 1890 by Hermann Henking in Leipzig. Henking was studying the testicles of ''Pyrrhocoris'' and noticed that one chromosome did not take part in meiosis. Chromosomes are so named because of their ability to take up staining (''chroma'' in Greek means ''color''). Although the X chromosome could be stained just as well as the others, Henking was unsure whether it was a different class of object and consequently named it ''X element'', which later be ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Carrier
A hereditary carrier (genetic carrier or just carrier), is a person or other organism that has inherited a recessive allele for a genetic trait or mutation but usually does not display that trait or show symptoms of the disease. Carriers are, however, able to pass the allele onto their offspring, who may then express the genetic trait. Carriers in autosomal inheritances Autosomal dominant-recessive inheritance is made possible by the fact that the individuals of most species (including all higher animals and plants) have two alleles of most hereditary predispositions because the chromosomes in the cell nucleus are usually present in pairs (diploid). Carriers can be female or male as the autosomes are homologous independently from the sex. In carriers the expression of a certain characteristic is recessive. The individual has both a genetic predisposition for the dominant trait and a genetic predisposition for the recessive trait, and the dominant expression prevails in the p ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
