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Distal Muscular Dystrophy
Distal myopathy is a group of rare genetic disorders that cause muscle damage and weakness, predominantly in the hands and/or feet. Mutation of many different genes can be causative. Many types involve dysferlin. Signs and symptoms All of the different types affect different regions of the extremities and can show up as early as 5 years of age to as late as 50 years old. Distal myopathy has slow progress therefore the patient may not know that they have it until they are in their late 40s or 50s. Miyoshi myopathy affects the posterior muscles of the lower leg, more so than the anterior muscles of the lower leg. Cause The cause of this myopathy is very hard to determine because it can be a mutation in any of at least eight genes and not all are known yet. These mutations can be inherited from one parent, autosomal dominant, or from both parents, autosomal recessive. There are eight known types of distal myopathy. Types Diagnosis In terms of diagnosis, Vocal cord and phary ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neurology
Neurology (from , "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 nervous system, which comprises the Human brain, brain, the spinal cord and the peripheral nervous system , peripheral nerves. Neurological practice relies heavily on the field of neuroscience, the scientific study of the nervous system, using various techniques of neurotherapy. IEEE Brain (2019). "Neurotherapy: Treating Disorders by Retraining the Brain". ''The Future Neural Therapeutics White Paper''. Retrieved 23.01.2025 from: https://brain.ieee.org/topics/neurotherapy-treating-disorders-by-retraining-the-brain/#:~:text=Neurotherapy%20trains%20a%20patient's%20brain,wave%20activity%20through%20positive%20reinforcement International Neuromodulation Society, Retrieved 23 January 2025 from: https://www.neuromodulation.com/ Val Danilov I (2023). "The O ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
MYH7
Myosin-7 is a protein that in humans is encoded by the ''MYH7'' gene. It is the myosin heavy chain beta (MHC-β) isoform (slow twitch) expressed primarily in the heart, but also in skeletal muscles (type I fibers). This isoform is distinct from the fast isoform of cardiac myosin heavy chain, MYH6, referred to as MHC-α. MHC-β is the major protein comprising the thick filament that forms the sarcomeres in cardiac muscle and plays a major role in cardiac muscle contraction. Structure MHC-β is a 223 kDa protein composed of 1935 amino acids. MHC-β is a hexameric, asymmetric motor forming the bulk of the thick filament in cardiac muscle. MHC-β is composed of N-terminal globular heads (20 nm) that project laterally, and alpha helical tails (130 nm) that dimerize and multimerize into a coiled-coil motif to form the light meromyosin (LMM), thick filament rod. The 9 nm alpha-helical neck region of each MHC-β head non-covalently binds two light chains, essential ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tibialis Posterior Muscle
The tibialis posterior muscle is the most central of all the leg muscles, and is located in the deep posterior compartment of the leg. It is the key stabilizing muscle of the lower leg. Posterior tibial tendonitis Posterior tibial tendonitis is a condition that predominantly affects runners and active individuals. It involves inflammation or tearing of the posterior tibial tendon, which connects the calf muscle to the bones on the inside of the foot. It plays a vital role in supporting the arch and assisting in foot movement. This condition can cause pain, swelling, and potentially lead to flatfoot if left untreated. Structure The tibialis posterior muscle originates on the inner posterior border of the fibula laterally. It is also attached to the interosseous membrane medially, which attaches to the tibia and fibula. The tendon of the tibialis posterior muscle (sometimes called the posterior tibial tendon) descends posterior to the medial malleolus. It terminates by dividin ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tendon Transfer
A tendon transfer is a surgical process in which the insertion (anatomy), insertion of a tendon is moved, but the origin (anatomy), origin remains in the same location. Tendon transfer involves redistribution of muscle power, not recreation. Tendons are transferred at the distal attachment from lesser to more important functions so that the overall function is improved. Tendon transfers provide a substitute which can be permanent or temporary, when muscle function is lost either due to nerve injuries or injuries to the muscle/tendon unit. Tendon transfers are also performed to correct the imbalanced muscle tone due to spasticity resulting from injuries to the central nervous system. Principles Preoperative evaluation of the patient is required to map out functional deficits, and determine which muscles are available for transfer. Time from injury, type of injury, and success of previous treatment should also be taken into account. Electrodiagnostic medicine, Electrodiagnostic stud ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ScienceDirect
ScienceDirect is a searchable web-based bibliographic database, which provides access to full texts of scientific and medical publications of the Dutch publisher Elsevier as well of several small academic publishers. It hosts over 18 million publications from more than 4,000 academic journals and 30,000 e-books. The access to the full-text requires subscription, while the bibliographic metadata are free to read. ScienceDirect was launched by Elsevier in March 1997. Usage The journals are grouped into four main sections: *''Physical Sciences and Engineering'' *''Life Sciences'' *''Health Sciences'' *''Social Sciences and Humanities''. Article abstracts are freely available, and access to their full texts (in PDF and, for newer publications, also HTML) generally requires a subscription or pay-per-view purchase unless the content is freely available in open access. Papers published under several open access licenses are available on ScienceDirect without cost. Access to t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Muscle Biopsy
In medicine, a muscle biopsy is a procedure in which a piece of muscle tissue is removed from an organism and examined microscopically. A muscle biopsy can lead to the discovery of problems with the nervous system, connective tissue, vascular system, or musculoskeletal system. Indications In humans with weakness and low muscle tone, a muscle biopsy can help distinguish between myopathies (where the pathology is in the muscle tissue itself) and neuropathies (where the pathology is at the nerves innervating those muscles). Muscle biopsies can also help to distinguish among various types of myopathies, by microscopic analysis for differing characteristics when exposed to a variety of chemical reactions and stains. However, in some cases the muscle biopsy alone is inadequate to distinguish between certain myopathies. For example, a muscle biopsy showing the nucleus pathologically located in the center of the muscle cell would indicate " centronuclear myopathy", but research has sho ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease (MND) or—in the United States—Lou Gehrig's disease (LGD), is a rare, Terminal illness, terminal neurodegenerative disease, neurodegenerative disorder that results in the progressive loss of both upper and lower motor neurons that normally control Skeletal muscle, voluntary muscle contraction. ALS is the most common form of the motor neuron diseases. ALS often presents in its early stages with gradual muscle Spasticity, stiffness, Fasciculation, twitches, Muscle weakness, weakness, and Muscle atrophy, wasting. Motor neuron loss typically continues until the abilities to eat, speak, move, and, lastly, breathe are all lost. While only 15% of people with ALS also fully develop frontotemporal dementia, an estimated 50% face at least some minor difficulties with cognitive disorder, thinking and behavior. Depending on which of the aforementioned symptoms develops first, ALS is classified as ''limb-onset'' (b ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
MATR3
Matrin-3 is a protein that in humans is encoded by the ''MATR3'' gene. Function The protein encoded by this gene is localized in the nuclear matrix. It may play a role in transcription or may interact with other nuclear matrix proteins to form the internal fibrogranular network. Two transcript variants encoding the same protein have been identified for this gene. Pathology Mutations in the Matrin 3 gene are associated with familial amyotrophic lateral sclerosis Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease (MND) or—in the United States—Lou Gehrig's disease (LGD), is a rare, Terminal illness, terminal neurodegenerative disease, neurodegenerative disorder that results i .... References Further reading * * * * * * * * * * * * * * * * * * * {{protein-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The first variant is termed dominant and the second is called recessive. This state of having Heterozygosity, two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or Heredity, inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes (autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neuromuscular Medicine
Neuromuscular medicine is a subspecialty of neurology and physiatry that focuses the diagnosis and management of neuromuscular diseases. The field encompasses issues related to both diagnosis and management of these conditions, including rehabilitation interventions to optimize the quality of life of individuals with these conditions. This field encompasses disorders that impact both adults and children and which can be inherited or acquired, typically from an autoimmune disease. A neurologist or physiatrist can diagnose these diseases through a clinical history, examination, and electromyography including nerve conduction studies. Many recent drug therapies have been developed to address the acquired neuromuscular diseases including but not limited to immune suppression and drugs that increase the neurotransmitters at the neuromuscular junction. Gene modifying therapies are also a recent treatment branch of neuromuscular medicine with advancements made in disorders such as ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
