Roussy–Lévy Syndrome
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Roussy–Lévy Syndrome
Roussy–Lévy syndrome, also known as Roussy–Lévy areflexic dystasia, is a rare Disorder (medicine), disorder of humans that results in progressive atrophy, muscle wasting. It is caused by a mutation of the genes that code for proteins necessary for the functioning of the myelin sheath affecting the conductance of nerve signals and resulting in loss of muscles' ability to move. The condition affects people from infants through adults. Signs and symptoms Symptoms of the Roussy–Lévy syndrome mainly stem from damage and the resulting progressive muscle atrophy. Neurological damage may result in absent tendon reflexes (areflexia), some distal sensory loss and decreased excitability of muscles to galvanic and faradic stimulation. Progressive muscle wasting results in weakness of Anatomical terms of location#Proximal and distal, distal limb muscles (especially the peroneus, peronei), gait ataxia, pes cavus, postural tremors and static tremor of the upper limbs and foot deformi ...
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Disorder (medicine)
A disease is a particular abnormal condition that adversely affects the structure or function of all or part of an organism and is not immediately due to any external injury. Diseases are often known to be medical conditions that are associated with specific signs and symptoms. A disease may be caused by external factors such as pathogens or by internal dysfunctions. For example, internal dysfunctions of the immune system can produce a variety of different diseases, including various forms of immunodeficiency, hypersensitivity, allergies, and autoimmune disorders. In humans, ''disease'' is often used more broadly to refer to any condition that causes pain, dysfunction, distress, social problems, or death to the person affected, or similar problems for those in contact with the person. In this broader sense, it sometimes includes injuries, disabilities, disorders, syndromes, infections, isolated symptoms, deviant behaviors, and atypical variations of structure and ...
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Missense Mutation
In genetics, a missense mutation is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid. It is a type of nonsynonymous substitution. Missense mutations change amino acids, which in turn alter proteins and may alter a protein's function or structure. These mutations may arise spontaneously from mutagens like UV radiation, tobacco smoke, an error in DNA replication, and other factors. Screening for missense mutations can be done by sequencing the genome of an organism and comparing the sequence to a reference genome to analyze for differences. Missense mutations can be repaired by the cell when there are errors in DNA replication by using mechanisms such as DNA proofreading and DNA mismatch repair, mismatch repair. They can also be repaired by using genetic engineering technologies or pharmaceuticals. Some notable examples of human diseases caused by missense mutations are Rett syndrome, cystic fibrosis, and Sickle cell disease ...
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Physical Therapy
Physical therapy (PT), also known as physiotherapy, is a healthcare profession, as well as the care provided by physical therapists who promote, maintain, or restore health through patient education, physical intervention, disease prevention, and health promotion. Physical therapist is the term used for such professionals in the United States, and physiotherapist is the term used in many other countries. The career has many specialties including musculoskeletal, orthopedics, cardiopulmonary, neurology, endocrinology, sports medicine, geriatrics, pediatrics, women's health, wound care and electromyography. PTs practice in many settings, both public and private. In addition to clinical practice, other aspects of physical therapy practice include research, education, consultation, and health administration. Physical therapy is provided as a primary care treatment or alongside, or in conjunction with, other medical services. In some jurisdictions, such as the United Kin ...
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KT Or MRT
KT, kT or kt may refer to: Arts and media * KT Bush Band, group formed by musician Kate Bush * ''KT'' (film), a 2002 Japanese political thriller film, based on the real-life kidnapping of Kim Dae-jung * '' Karlstads-Tidningen'' (''KT''), a Swedish newspaper released in Karlstad * Knight (chess), a board game piece (as used in notation) Businesses and organizations * KT Corporation, a telecommunications company in South Korea, formerly Korea Telecom * Kataller Toyama, a football club in Japan * Kensington Temple, a Pentecostal church in west London, UK * Koei Tecmo, a holding company created in 2009 by the merger of Japanese video game companies Koei and Tecmo * AirAsia Cambodia (IATA code KT) * Birgenair (IATA code KT), a former Turkish charter airline company with headquarters in Istanbul, Turkey People * (active mid-late 20th century), dissident Polish journalist known as K.T., brother of film educator Jerzy Toeplitz * KT Manu Musliar (born 1934), Indian Islamic scholar, ora ...
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Neurons
A neuron (American English), neurone (British English), or nerve cell, is an membrane potential#Cell excitability, excitable cell (biology), cell that fires electric signals called action potentials across a neural network (biology), neural network in the nervous system. They are located in the nervous system and help to receive and conduct impulses. Neurons communicate with other cells via synapses, which are specialized connections that commonly use minute amounts of chemical neurotransmitters to pass the electric signal from the presynaptic neuron to the target cell through the synaptic gap. Neurons are the main components of nervous tissue in all Animalia, animals except sponges and placozoans. Plants and fungi do not have nerve cells. Molecular evidence suggests that the ability to generate electric signals first appeared in evolution some 700 to 800 million years ago, during the Tonian period. Predecessors of neurons were the peptidergic secretory cells. They eventually ga ...
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Fibroblasts
A fibroblast is a type of biological cell typically with a spindle shape that synthesizes the extracellular matrix and collagen, produces the structural framework ( stroma) for animal tissues, and plays a critical role in wound healing. Fibroblasts are the most common cells of connective tissue in animals. Structure Fibroblasts have a branched cytoplasm surrounding an elliptical, speckled nucleus having two or more nucleoli. Active fibroblasts can be recognized by their abundant rough endoplasmic reticulum (RER). Inactive fibroblasts, called ' fibrocytes', are smaller, spindle-shaped, and have less RER. Although disjointed and scattered when covering large spaces, fibroblasts often locally align in parallel clusters when crowded together. Unlike the epithelial cells lining the body structures, fibroblasts do not form flat monolayers and are not restricted by a polarizing attachment to a basal lamina on one side, although they may contribute to basal lamina components in s ...
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Schwann Cells
Schwann cells or neurolemmocytes (named after German physiologist Theodor Schwann) are the principal glia of the peripheral nervous system (PNS). Glial cells function to support neurons and in the PNS, also include Satellite glial cell, satellite cells, olfactory ensheathing cells, enteric glia and glia that reside at sensory nerve endings, such as the Pacinian corpuscle. The two types of Schwann cells are Myelin, myelinating and Nonmyelinating Schwann cell, nonmyelinating. Myelinating Schwann cells wrap around axons of motor and sensory neurons to form the myelin sheath. The Schwann cell promoter is present in the Upstream and downstream (DNA), downstream region of the human dystrophin gene that gives shortened Transcription (biology), transcript that are again synthesized in a tissue-specific manner. During the development of the PNS, the regulatory mechanisms of myelination are controlled by feedforward interaction of specific genes, influencing transcriptional cascades and sh ...
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Gabrielle Charlotte Lévy
Gabrielle Charlotte Lévy (11 January 1886 – 6 October 1934) was a French neurologist, for whose work the Roussy–Lévy syndrome and the Lhermitte-Lévy syndrome are named. She also made significant contributions to the understanding of encephalitis lethargica. Early life and education Lévy was born in Paris on 11 January 1886 to Mina Marie Lang (1851–1903) and Emile Gustave Lévy (1844–1912), who was in the textile business. She was the last of five children, and the only girl. As a child, she had many interests including music, but chose to study medicine. An obituary published in the ''Journal of Nervous and Mental Disease'' describes her as having "qualities of intense application and of intelligence." Lévy started her in Paris in 1911. Between 1912 and 1915, she worked at the surgical department of La Pitié Hospital, with Paul Oulmont at , with Antoine Marfan at the , and again at La Pitié Hospital with Professor Enrique. She then worked for three years with P ...
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Gustave Roussy
Gustave Roussy (; 24 November 1874 – 30 September 1948) was a Swiss-French neuropathologist born in Vevey, Switzerland. Career As a hospital interne in Paris, Roussy worked under neurologists Pierre Marie and Joseph Jules Dejerine. In 1907 he earned his doctorate from the University of Paris, and in 1925 was appointed professor of pathological anatomy at the ''Faculté de Médecine de Paris, Faculté de Médecine''. Later on, he was named dean (1933) and rector (academia), rector (1937) to the faculty of medicine at the University of Paris, university. Roussy made several contributions in the field of neurology, in particular, his investigations on the role of the thalamus and the autonomic nervous system. During World War I he was chief of neurology of the 7th Military Region Besançon, publishing extensively on his experiences with battle-related wounds. He was the author or co-author of a number of works on psychological and neuropsychological issues as a consequence of ...
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Biopsy
A biopsy is a medical test commonly performed by a surgeon, interventional radiologist, an interventional radiologist, or an interventional cardiology, interventional cardiologist. The process involves the extraction of sampling (medicine), sample Cell (biology), cells or Biological tissue, tissues for examination to determine the presence or extent of a disease. The tissue is then Histopathology, fixed, dehydrated, embedded, sectioned, stained and mounted before it is generally examined under a microscope by a pathologist; it may also be analyzed chemically. When an entire lump or suspicious area is removed, the procedure is called an excisional biopsy. An incisional biopsy or core biopsy samples a portion of the abnormal tissue without attempting to remove the entire lesion or tumor. When a sample of tissue or fluid is removed with a needle in such a way that cells are removed without preserving the histological architecture of the tissue cells, the procedure is called a needle as ...
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Electromyography
Electromyography (EMG) is a technique for evaluating and recording the electrical activity produced by skeletal muscles. EMG is performed using an instrument called an electromyograph to produce a record called an electromyogram. An electromyograph detects the electric potential generated by muscle cells when these cells are electrically or neurologically activated. The signals can be analyzed to detect abnormalities, activation level, or recruitment order, or to analyze the biomechanics of human or animal movement. Needle EMG is an electrodiagnostic medicine technique commonly used by neurologists. Surface EMG is a non-medical procedure used to assess muscle activation by several professionals, including physiotherapists, kinesiologists and biomedical engineers. In computer science, EMG is also used as middleware in gesture recognition towards allowing the input of physical action to a computer as a form of human-computer interaction. Clinical uses EMG testing has a varie ...
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