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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 pharyn ... [...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] |
MYH7
MYH7 is a gene encoding a 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 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 light chain (MYL3) and regulatory light chain (MYL2). Approximately 300 myosin molecu ... [...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. 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 dividing into plantar, main, and recurrent components. The main portion inserts into the tuberosity of the navicular bone. The smaller portion inserts into the plantar surface of the medial cuneiform. The plantar portion inserts into the bases of the second, third and fourth metatarsals, the intermediate and lateral cuneiforms and the cuboid. The recurrent portion inserts into the sustentaculum tali of the calcaneus. Blood is supplied to the m ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tendon Transfer
A tendon transfer is a surgical process in which the insertion of a tendon is moved, but the 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 studies may be useful in determining the extent of motor loss and pred ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ScienceDirect
ScienceDirect is a website which provides access to a large bibliographic database of scientific and medical publications of the Dutch publisher Elsevier. It hosts over 18 million pieces of content from more than 4,000 academic journals and 30,000 e-books of this publisher. The access to the full-text requires subscription, while the bibliographic metadata is free to read. ScienceDirect is operated by Elsevier. It was launched in March 1997. Usage The journals are grouped into four main sections: ''Physical Sciences and Engineering'', ''Life Sciences'', ''Health Sciences'', and ''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. Subscriptions to the overall offering hosted on ScienceDirect, rather than to specific titles it carries, are usually acquired through a ... [...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 shown ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease (MND) or Lou Gehrig's disease, is a neurodegenerative disease that results in the progressive loss of motor neurons that control voluntary muscles. ALS is the most common type of motor neuron diseases. Early symptoms of ALS include stiff muscles, muscle twitches, and gradual increasing weakness and muscle wasting. ''Limb-onset ALS'' begins with weakness in the arms or legs, while ''bulbar-onset ALS'' begins with difficulty speaking or swallowing. Half of the people with ALS develop at least mild difficulties with thinking and behavior, and about 15% develop frontotemporal dementia. Most people experience pain. The affected muscles are responsible for chewing food, speaking, and walking. Motor neuron loss continues until the ability to eat, speak, move, and finally the ability to breathe is lost. ALS eventually causes paralysis and early death, usually from respiratory failure. Most cases of ALS (a ... [...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 Lou Gehrig's disease, is a neurodegenerative disease that results in the progressive loss of motor neurons that control voluntary muscles. ALS is the most comm .... 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 effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having 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 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 copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomplete d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Dominant
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having 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 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 copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomplete d ... [...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. Neuromuscular disease can be caused by autoimmune disorders, genetic or hereditary disorders such as channelopathies, or neurodegenerative diseases. Because they frequently have no cure, the focus is managing the condition to provide improvements in the patients quality. Rehabilitation robotics is a new frontier for neurological rehabilitation treatments. Diagnostic tools The tools used to diagnose neuromuscular disorders include nerve and muscle biopsies, electromyography, nerve conduction studies, and molecular and genetic tests. See also * List of neuromuscular disorders * M ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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