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Becker's Muscular Dystrophy
Becker muscular dystrophy (BMD) is an X-linked recessive inherited disorder characterized by slowly progressing muscle weakness of the legs and pelvis. It is a type of dystrophinopathy. The cause is mutations and deletions in any of the 79 exons encoding the large dystrophin protein, essential for maintaining the muscle fiber's cell membrane integrity. Becker muscular dystrophy is related to Duchenne muscular dystrophy in that both result from a mutation in the dystrophin gene, however, the hallmark of Becker is milder in-frame deletions. and hence has a milder course, with patients maintaining ambulation till 50–60 years if detected early. While there is no known cure, management strategies such as physical therapy, braces, and corrective surgery may alleviate symptoms. Assisted ventilation may be required in those with weakness of breathing muscles. Several drugs designed to address the root cause are currently available including gene therapy ( Elevidys). Other medicat ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
X-linked Recessive
''Main Article'': Sex linkage X-linked recessive inheritance is a mode of Mendelian inheritance, inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be always expressed in males (who are necessarily hemizygous for the gene mutation because they have one X and one Y chromosome) and in females who are homozygous for the gene mutation (see zygosity). Females with one copy of the mutated gene are carriers. X-linked inheritance means that the gene causing the trait or the disorder is located on the X chromosome. Females have two X chromosomes while males have one X and one Y chromosome. Carrier females who have only one copy of the mutation do not usually express the phenotype, although differences in X-chromosome inactivation (known as skewed X-inactivation) can lead to varying degrees of clinical expression in carrier females, since some cells will express one X allele and some will express the other. The current estimate of sequenced X-linked genes i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Calcium Channel Blockers
Calcium channel blockers (CCB), calcium channel antagonists or calcium antagonists are a group of medications that disrupt the movement of calcium () through calcium channels. Calcium channel blockers are used as antihypertensive drugs, i.e., as medications to decrease blood pressure in patients with hypertension. CCBs are particularly effective against large vessel stiffness, one of the common causes of elevated systolic blood pressure in elderly patients. Calcium channel blockers are also frequently used to alter heart rate (especially from atrial fibrillation), to prevent peripheral and cerebral vasospasm, and to reduce chest pain caused by angina pectoris. N-type, L-type, and T-type voltage-dependent calcium channels are present in the zona glomerulosa of the human adrenal gland, and CCBs can directly influence the biosynthesis of aldosterone in adrenocortical cells, with consequent impact on the clinical treatment of hypertension with these agents. CCBs have been ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Skeleton
A skeleton is the structural frame that supports the body of most animals. There are several types of skeletons, including the exoskeleton, which is a rigid outer shell that holds up an organism's shape; the endoskeleton, a rigid internal frame to which the organs and soft tissues attach; and the hydroskeleton, a flexible internal structure supported by the hydrostatic pressure of body fluids. Vertebrates are animals with an endoskeleton centered around an axial vertebral column, and their skeletons are typically composed of bones and cartilages. Invertebrates are other animals that lack a vertebral column, and their skeletons vary, including hard-shelled exoskeleton (arthropods and most molluscs), plated internal shells (e.g. cuttlebones in some cephalopods) or rods (e.g. ossicles in echinoderms), hydrostatically supported body cavities (most), and spicules (sponges). Cartilage is a rigid connective tissue that is found in the skeletal systems of vertebrates and invert ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Respiration (physiology)
In physiology, respiration is the transport of oxygen from the outside environment to the Cell (biology), cells within Tissue (biology), tissues, and the removal of carbon dioxide in the opposite direction to the environment by a respiratory system. The physiological definition of respiration differs from the Cellular respiration, biochemical definition, which refers to a metabolic process by which an organism obtains energy (in the form of ATP and NADPH) by oxidizing nutrients and releasing waste products. Although physiologic respiration is necessary to sustain cellular respiration and thus life in animals, the processes are distinct: cellular respiration takes place in individual cells of the organism, while physiologic respiration concerns the Diffusion#Diffusion vs. bulk flow diffusion, diffusion and transport of metabolites between the organism and the external environment. Exchange of gases in the lung occurs by ventilation and perfusion. Ventilation refers to the in-and-ou ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gowers' Sign
Gowers's 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 their hands and arms to "walk" up their own body from a squatting position due to lack of hip and thigh muscle strength. It is named after William Richard Gowers.W. R. Gowers. A manual of the nervous system. Philadelphia; 2nd edition, volume 1, 1895. __TOC__ Associations Gowers's sign is classically seen in Duchenne muscular dystrophy where it is mostly evident at 4–6 years, but also presents itself in centronuclear myopathy, myotonic dystrophy and various other conditions associated with proximal muscle weakness, including Becker muscular dystrophy, dermatomyositis and Pompe disease. For this maneuver, the patient is placed on the floor away from any objects that could otherwise be used to pull oneself to a standing position. It is also used in testing paraplegia. See also * Spinal muscular atrophy Spinal muscul ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Walking
Walking (also known as ambulation) is one of the main gaits of terrestrial locomotion among legged animals. Walking is typically slower than running and other gaits. Walking is defined as an " inverted pendulum" gait in which the body vaults over the stiff limb or limbs with each step. This applies regardless of the usable number of limbs—even arthropods, with six, eight, or more limbs, walk. In humans, walking has health benefits including improved mental health and reduced risk of cardiovascular disease and death. Difference from running The word ''walk'' is descended from the Old English ''wealcan'' 'to roll'. In humans and other bipeds, walking is generally distinguished from running in that only one foot at a time leaves contact with the ground and there is a period of double-support. In contrast, running begins when both feet are off the ground with each step. This distinction has the status of a formal requirement in competitive walking events. For quadrupedal ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Eteplirsen
Eteplirsen (brand name Exondys 51) is a medication to treat, but not cure, some types of Duchenne muscular dystrophy (DMD), caused by a specific mutation. Eteplirsen only targets specific mutations and can be used to treat about 14% of DMD cases. Eteplirsen is a form of antisense therapy. Eteplirsen was developed by Steve Wilton, Sue Fletcher and colleagues at the University of Western Australia and commercialized by Sarepta Therapeutics. After a controversial debate surrounding the drug's efficacy, during which two FDA review panel members resigned in protest, eteplirsen received accelerated approval from the US Food and Drug administration in late 2016. The Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) refused to authorize the use of eteplirsen. Adverse effects The following adverse events were observed in at least 10% of people who received eteplirsen in trials: vomiting, contusion, excoriation, arthralgia, rash, catheter site pai ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ataluren
Ataluren, sold under the brand name Translarna, is a medication for the treatment of Duchenne muscular dystrophy. It was designed by PTC Therapeutics. Medical use Ataluren is used in the European Union to treat people with Duchenne muscular dystrophy who have a nonsense mutation in the dystrophin gene, can walk, and are more than five years old. Contraindications People who are pregnant or breast feeding should not take ataluren. Adverse effects More than 10% of people taking ataluren in clinical trials experienced vomiting; more than 5% experienced diarrhea, nausea, headache, upper abdominal pain, and flatulence; between 1% and 5% of people experienced decreased appetite and weight loss, high levels of triglycerides, high blood pressure, cough, nosebleeds, abdominal discomfort, constipation, rashes, pain in their arms, legs, and chest muscles, blood in their urine, urinary incontinence, and fever. Interactions Aminoglycosides should not be given to someone taking atalure ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Antisense Therapy
Antisense therapy is a form of treatment that uses antisense oligonucleotides (ASOs) to target messenger RNA (mRNA). ASOs are capable of altering mRNA expression through a variety of mechanisms, including ribonuclease H mediated decay of the pre-mRNA, direct steric blockage, and exon content modulation through Splicing (genetics), splicing site binding on pre-mRNA. Several ASOs have been approved in the United States, the European Union, and elsewhere. Nomenclature The common stem for antisense oligonucleotides drugs is -rsen. The substem -virsen designates antiviral antisense oligonucleotides. Antisense Oligonucleotide Development Developments in ASO modification are separated into three generations. Generation one is called backbone-modified and focuses on the phosphodiester group of the nucleotide. This impacts inter-nucleotide binding. These modifications led to better distribution, reduced urinary excretion, and prolonged residence time of the ASOs in the cell. Some exam ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Muscle Cell
A muscle cell, also known as a myocyte, is a mature contractile Cell (biology), cell in the muscle of an animal. In humans and other vertebrates there are three types: skeletal muscle, skeletal, smooth muscle, smooth, and Cardiac muscle, cardiac (cardiomyocytes). A skeletal muscle cell is long and threadlike with multinucleated, many nuclei and is called a ''muscle fiber''. Muscle cells develop from embryonic precursor cells called myoblasts. Skeletal muscle cells form by cell fusion, fusion of myoblasts to produce multinucleated cells (syncytium, syncytia) in a process known as myogenesis. Skeletal muscle cells and cardiac muscle cells both contain myofibrils and sarcomeres and form a striated muscle tissue. Cardiac muscle cells form the cardiac muscle in the walls of the heart chambers, and have a single central Cell nucleus, nucleus. Cardiac muscle cells are joined to neighboring cells by intercalated discs, and when joined in a visible unit they are described as a ''cardiac m ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Givinostat
Givinostat, sold under the brand name Duvyzat is a medication used for the treatment of Duchenne muscular dystrophy. It is a histone deacetylase inhibitor with potential anti-inflammatory, anti-angiogenic, and antineoplastic activities. It is a histone deacetylase (HDAC) inhibitor that works by targeting pathogenic processes to reduce inflammation and loss of muscle. The most common side effects include diarrhea, abdominal pain, low platelets (thrombocytopenia), nausea/vomiting, an increase in triglycerides (a type of fat in the body) (hypertriglyceridemia), and fever. Givinostat was approved for medical use in the United States in March 2024. Givinostat is the first nonsteroidal medication approved by the US Food and Drug Administration (FDA) to treat people with all genetic variants of Duchenne muscular dystrophy. The FDA considers it to be a first-in-class medication. Medical uses Givinostat is indicated for the treatment of Duchenne muscular dystrophy in people six yea ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Histone Deacetylase Inhibitor
Histone deacetylase inhibitors (HDAC inhibitors, HDACi, HDIs) are chemical compounds that enzyme inhibitor, inhibit histone deacetylases. Since acetylation of histones, deacetylation of histones produces transcriptionally silenced heterochromatin, HDIs can render chromatin more transcriptionally active and induce epigenomic changes. HDIs have a long history of use in psychiatry and neurology as mood stabilizers and anti-epileptics, such as valproic acid. Since at least 2003 they have been investigated as possible treatments for cancers, parasitic and inflammatory diseases. Cellular biochemistry/pharmacology To carry out gene expression, a cell must control the coiling and uncoiling of DNA around histones. This is accomplished with the assistance of histone acetyltransferase, histone acetyl transferases (HAT), which acetylation of histones , acetylate the lysine residues in core histones leading to a less compact and more transcriptionally active euchromatin, and, on the conv ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
