Neuromuscular Junction Diseases
Conditions characterized by impaired transmission of impulses at the NEUROMUSCULAR JUNCTION. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or ACETYLCHOLINESTERASE activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions.
Motor Endplate
Receptors, Cholinergic
Cell surface proteins that bind acetylcholine with high affinity and trigger intracellular changes influencing the behavior of cells. Cholinergic receptors are divided into two major classes, muscarinic and nicotinic, based originally on their affinity for nicotine and muscarine. Each group is further subdivided based on pharmacology, location, mode of action, and/or molecular biology.
Gap Junctions
Connections between cells which allow passage of small molecules and electric current. Gap junctions were first described anatomically as regions of close apposition between cells with a narrow (1-2 nm) gap between cell membranes. The variety in the properties of gap junctions is reflected in the number of CONNEXINS, the family of proteins which form the junctions.
Motoneuron survival is enhanced in the absence of neuromuscular junction formation in embryos. (1/29)
Approximately half of the motoneurons produced during development die before birth or shortly after birth. Although it is believed that survival depends on a restricted supply of a trophic sustenance produced by the synaptic target tissue (i.e., muscle), it is unclear whether synapse formation per se is involved in motoneuron survival. To address this issue, we counted cranial motoneurons in a set of mutant mice in which formation of neuromuscular junctions is dramatically impaired (i.e., null mutants for agrin, nerve-derived agrin, rapsyn, and MuSK). We demonstrate that in the absence of synaptogenesis, there is an 18-34% increase in motoneuron survival in the facial, trochlear, trigeminal motor, and hypoglossal nuclei; the highest survival occurred in the MuSK-deficient animals in which synapse formation is most severely compromised. There was no change in the size of the mutant motoneurons as compared with control animals, and the morphology of the mutant motoneurons appeared normal. We postulate that the increased axonal branching observed in these mutants leads to a facilitated "access" of the motoneurons to muscle-derived trophic factors at sites other than synapses or that inactivity increases the production of such factors. Finally, we examined motoneurons in double mutants of CNTFRalpha(-/-) (in which there is a partial loss of motoneurons) and MuSK(-/-) (in which there is an increased survival of motoneurons). The motoneuron numbers in the double mutants parallel those of the single MuSK-deficient mice, indicating that synapse disruption can even overcome the deleterious effect of CNTFRalpha ablation. (+info)Assessment of a simple artificial neural network for predicting residual neuromuscular block. (2/29)
BACKGROUND: Postoperative residual curarization (PORC) after surgery is common and its detection has a high error rate. Artificial neural networks are being used increasingly to examine complex data. We hypothesized that a neural network would enhance prediction of PORC. METHODS: In 40 previously reported patients, neuromuscular function, neuromuscular block/antagonist usage and time intervals were recorded throughout anaesthesia until tracheal extubation by an observer uninvolved in patient care. PORC was defined as significant 'fade' (train of four <0.7) at extubation. Neuromuscular function was classified as PORC (value=1) or no PORC (value=0). A back-propagation neural network was trained to assign similar values (0, 1) for prediction of PORC, by examining the impact of (i) the degree of spontaneous recovery at reversal, and (ii) the time since pharmacological reversal, using the jackknife method. Successful prediction was defined as attainment of a predicted value within 0.2 of the target value. RESULTS: Twenty-six patients (65%) had PORC at tracheal extubation. Clinical detection of PORC had a sensitivity of 0 and specificity of 1, with an indeterminate positive predictive value and a negative predictive value of 0.35. Using the artificial neural network, one patient with residual block and one with adequate neuromuscular function were incorrectly classified during the test phase, with no indeterminate predictions, giving an artificial neural network sensitivity of 0.96 (chi(2)=44, P<0.001) and specificity of 0.92 (P=1), with a positive predictive value of 0.96 and a negative predictive value of 0.93 (chi(2)=12, P<0.001). CONCLUSIONS: Neural network-based prediction, using readily available clinical measurements, is significantly better than human judgement in predicting recovery of neuromuscular function. (+info)Degeneration and regeneration of murine skeletal neuromuscular junctions after intramuscular injection with a sublethal dose of Clostridium sordellii lethal toxin. (3/29)
Clostridium sordellii lethal toxin (LT), a 250-kDa protein which is the bacteria's major virulence factor, belongs to a family of large clostridial cytotoxins which glucosylate small GTP-binding proteins. Here, we report the results of our ex vivo analysis of the structure and function of skeletal neuromuscular tissue obtained from mice at various times after intramuscular injection of a sublethal dose of LT (0.25 ng/g of body wt). The toxin caused, within 24 h, pronounced localized edema, inflammation, myofibril disassembly, and degeneration of skeletal muscle fibers in the injected area, and it glucosylated the muscle tissue's small GTPases. Regeneration of the damaged fibers was evident 6 to 9 days postinjury and was completed by 60 days. The expression of dystrophin, laminin, and fast and neonatal myosin in regenerating fibers, detected by immunofluorescence microscopy, confirmed that LT does not impair the high regenerative capacity of murine skeletal muscle fibers. Functional studies revealed that LT affects muscle contractility and neuromuscular transmission. However, partial recovery of nerve-evoked muscle twitches and tetanic contractions was observed by day 15 postinjection, and extensive remodeling of the neuromuscular junction's nerve terminals and clusters of muscle acetylcholine receptors was still evident 30 days postinjection. In conclusion, to the best of our knowledge, this is the first report to characterize the degeneration and regeneration of skeletal neuromuscular tissue after in vivo exposure to a large clostridial cytotoxin. In addition, our data may provide an explanation for the severe neuromuscular alterations accompanying wound infections caused by C. sordellii. (+info)Defects in neuromuscular junction structure in dystrophic muscle are corrected by expression of a NOS transgene in dystrophin-deficient muscles, but not in muscles lacking alpha- and beta1-syntrophins. (4/29)
Muscular dystrophies that arise from mutations of genes that encode proteins in the dystrophin-glycoprotein complex (DGC) frequently involve defects in the structure of neuromuscular junctions (NMJs). DGC mutations that cause NMJ defects typically cause a secondary loss of neuronal nitric oxide synthase (nNOS) from the post-synaptic membrane. We tested the hypothesis that reduction of muscle-derived NO production causes NMJ defects in DGC mutants by analyzing the effect of modulating muscle NO production on NMJ structure in mutant and wild-type muscles. We found that nNOS null mutants, dystrophin-deficient mdx mice and alpha-syntrophin null mutants showed reductions in the concentration of acetylcholine receptors (AChRs) at the post-synaptic membrane. Also, expression of a muscle-specific NOS transgene increased AChR concentration, which reflected an increase in both AChR expression and clustering. NOS transgene expression also increased the size of NMJs, and partially corrected defects in normal NMJ architecture that were observed in mdx and alpha-syntrophin null muscles. In addition, stimulation of AChR clustering in vitro by application of laminin or VVA B4 lectin induced a 3-4-fold increase in NOS activity and increased AChR clustering that could be prevented by NOS inhibition. However, the partial rescue of NMJ structure by expression of a NOS transgene required the expression of alpha- or beta1-syntrophin at the NMJ; partial NMJ rescue was seen in the muscles of alpha-syntrophin mutants that expressed beta1-syntrophin, but no rescue was observed in muscles of alpha-syntrophin mutants that also lacked beta1-syntrophin. These findings show that NO promotes AChR expression and clustering in vivo and contributes to normal NMJ architecture. The results suggest that defects in NMJ structure that occur in some DGC mutants can result from the secondary loss of NOS from muscle. (+info)Intracellular expression profiling by laser capture microdissection: three novel components of the neuromuscular junction. (5/29)
The neuromuscular junction (NMJ) is a regionally specialized area of myofibers defined, in part, by specific gene expression from underlying myonuclei. We sought to obtain a more complete picture of the mRNA transcripts and proteins playing a role in NMJ formation and maintenance using laser capture microdissection (LCM) and to define expression profiles of the nuclear domain at the NMJ. NMJs (800) were isolated from normal mouse tibialis anterior muscle by LCM, with an equal amount of adjacent non-NMJ regions isolated. Many known components of the NMJ were found significantly differentially expressed. Three differentially expressed potential novel components of the NMJ were chosen for further study, and each was validated by immunostaining with and without blocking peptides (3/3), quantitative RT-PCR (3/3), and in situ hybridization (1/3). The three genes validated were dual-specificity phosphatase-6 (DUSP6), ribosomal receptor-binding protein-1 (RRBP1), and vacuolar protein sorting-26 (VPS26). Query of each of these novel components in a 27-time point in vivo muscle regeneration series showed expression commensurate with previously known NMJ markers (nestin, alpha-ACh receptor). Understanding and discovering elements responsible for the integrity and function of NMJs is relevant to understanding neuromuscular diseases such as spinal muscular atrophy. Our LCM-based mRNA expression profiling provided us with new means of identification of specific genes potentially responsible for NMJ stability and function and new candidates for involvement in disease pathogenesis. (+info)Mice deficient for the vesicular acetylcholine transporter are myasthenic and have deficits in object and social recognition. (6/29)
An important step for cholinergic transmission involves the vesicular storage of acetylcholine (ACh), a process mediated by the vesicular acetylcholine transporter (VAChT). In order to understand the physiological roles of the VAChT, we developed a genetically altered strain of mice with reduced expression of this transporter. Heterozygous and homozygous VAChT knockdown mice have a 45% and 65% decrease in VAChT protein expression, respectively. VAChT deficiency alters synaptic vesicle filling and affects ACh release. Whereas VAChT homozygous mutant mice demonstrate major neuromuscular deficits, VAChT heterozygous mice appear normal in that respect and could be used for analysis of central cholinergic function. Behavioral analyses revealed that aversive learning and memory are not altered in mutant mice; however, performance in cognitive tasks involving object and social recognition is severely impaired. These observations suggest a critical role of VAChT in the regulation of ACh release and physiological functions in the peripheral and central nervous system. (+info)Neuromuscular abnormalities associated with spasticity of upper extremity muscles in hemiparetic stroke. (7/29)
Our objective was to assess the mechanical changes associated with spasticity in elbow muscles of chronic hemiparetic stroke survivors and to compare these changes with those recorded in the ankle muscles of a similar cohort. We first characterized elbow dynamic stiffness by applying pseudorandom binary positional perturbations to the joints at different initial angles, over the entire range of motion, with subjects relaxed. We separated this stiffness into intrinsic and reflex components using a novel parallel cascade system identification technique. In addition, for controls, we studied the nonparetic limbs of stroke survivors and limbs of age-matched healthy subjects as primary and secondary controls. We found that both reflex and intrinsic stiffnesses were significantly larger in the stroke than in the nonparetic elbow muscles, and the differences increased as the elbow was extended. Reflex stiffness increased monotonically with the elbow angle in both paretic and nonparetic sides. In contrast, the modulation of intrinsic stiffness with elbow position was different in nonparetic limbs; intrinsic stiffness decreased sharply from full- to mid-flexion in both sides, then it increased continuously with the elbow extension in the paretic side. It remained invariant in the nonparetic side. Surprisingly, reflex stiffness was larger in the nonparetic than in the normal control arm, yet intrinsic stiffness was smaller in the nonparetic arm. Finally, we compare the angular dependence of paretic elbow and ankle muscles and show that the modulation of reflex stiffness with position was strikingly different. (+info)Neuromuscular junction in health and disease. (8/29)
A number of illnesses and other factors can affect the function of the neuromuscular junction (NMJ). These may have an affect at pre- or post-junctional sites. This review outlines the anatomy and the physiology of the NMJ. It also describes the mechanisms and physiological basis of many of the disorders of the NMJ. Finally, the importance of these disorders in anaesthetic practice is discussed. (+info)Neuromuscular junction diseases are a group of disorders characterized by dysfunction or damage to the neuromuscular junction, leading to skeletal muscle weakness, fatigability, and sometimes autonomic symptoms, with conditions such as myasthenia gravis, Lambert-Eaton myasthenic syndrome, and botulism being notable examples.
Neuromuscular junction diseases are a group of disorders that affect the functioning of the neuromuscular junction, which is the site where nerve impulses are transmitted to muscles. These diseases are characterized by muscle weakness and fatigue, and can be caused by various factors such as autoimmune disorders, genetic mutations, or toxins.
Examples of neuromuscular junction diseases include myasthenia gravis, Lambert-Eaton myasthenic syndrome (LEMS), congenital myasthenic syndromes (CMS), and botulism. Myasthenia gravis is an autoimmune disorder that causes the immune system to attack the receptors in the neuromuscular junction, leading to muscle weakness and fatigue. LEMS is a rare autoimmune disorder that affects the nerve endings at the neuromuscular junction, causing muscle weakness and decreased reflexes.
Congenital myasthenic syndromes are genetic disorders that affect the functioning of the neuromuscular junction from birth, leading to muscle weakness and fatigue. Botulism is a rare but serious condition caused by the ingestion of botulinum toxin, which can lead to paralysis of the muscles due to interference with nerve impulse transmission at the neuromuscular junction.
Treatment for neuromuscular junction diseases may include medications such as cholinesterase inhibitors, immunosuppressive drugs, or plasma exchange therapy, depending on the specific diagnosis and severity of the condition.
The neuromuscular junction is defined as the specialized synaptic connection between a motor neuron and a muscle fiber, where nerve impulses are transmitted to induce muscle contraction through the release and binding of neurotransmitters, primarily acetylcholine, to receptors.
The neuromuscular junction (NMJ) is the specialized synapse or chemical communication point, where the motor neuron's nerve terminal (presynaptic element) meets the muscle fiber's motor end plate (postsynaptic element). This junction plays a crucial role in controlling muscle contraction and relaxation.
At the NMJ, the neurotransmitter acetylcholine is released from the presynaptic nerve terminal into the synaptic cleft, following an action potential. Acetylcholine then binds to nicotinic acetylcholine receptors on the postsynaptic membrane of the muscle fiber, leading to the generation of an end-plate potential. If sufficient end-plate potentials are generated and summate, they will trigger an action potential in the muscle fiber, ultimately causing muscle contraction.
Dysfunction at the neuromuscular junction can result in various neuromuscular disorders, such as myasthenia gravis, where autoantibodies attack acetylcholine receptors, leading to muscle weakness and fatigue.
The motor endplate, also known as the neuromuscular junction, is the specialized synaptic structure where the axon terminal of a motor neuron communicates with and transmits neurotransmitters to activate the muscle fiber it innervates.
A motor endplate, also known as the neuromuscular junction, is the site where a motor neuron's axon terminal synapses with a muscle fiber. It is a specialized chemical synapse that allows for the transmission of electrical signals from the nervous system to the skeletal muscles, resulting in muscle contraction. The motor endplate is composed of several structures including the presynaptic membrane, which contains neurotransmitter-filled vesicles, and the postsynaptic membrane, which contains numerous nicotinic acetylcholine receptors. When an action potential reaches the axon terminal, it triggers the release of acetylcholine into the synaptic cleft, where it binds to receptors on the postsynaptic membrane and causes the opening of ion channels, leading to the generation of an endplate potential that can trigger muscle contraction.
Cholinergic receptors are types of receptors in the nervous system that are activated by the neurotransmitter acetylcholine, responsible for mediating various physiological processes including muscle contraction, heart regulation, and cognitive functions.
Cholinergic receptors are a type of receptor in the body that are activated by the neurotransmitter acetylcholine. Acetylcholine is a chemical that nerve cells use to communicate with each other and with muscles. There are two main types of cholinergic receptors: muscarinic and nicotinic.
Muscarinic receptors are found in the heart, smooth muscle, glands, and the central nervous system. They are activated by muscarine, a type of alkaloid found in certain mushrooms. When muscarinic receptors are activated, they can cause changes in heart rate, blood pressure, and other bodily functions.
Nicotinic receptors are found in the nervous system and at the junction between nerves and muscles (the neuromuscular junction). They are activated by nicotine, a type of alkaloid found in tobacco plants. When nicotinic receptors are activated, they can cause the release of neurotransmitters and the contraction of muscles.
Cholinergic receptors play an important role in many physiological processes, including learning, memory, and movement. They are also targets for drugs used to treat a variety of medical conditions, such as Alzheimer's disease, Parkinson's disease, and myasthenia gravis (a disorder that causes muscle weakness).
Specialised intercellular connections allowing direct exchange of ions, metabolites and second messengers between the cytoplasm of adjacent cells, formed by arrays of channels called connexons, each composed of six transmembrane proteins called connexins.
Gap junctions are specialized intercellular connections that allow for the direct exchange of ions, small molecules, and electrical signals between adjacent cells. They are composed of arrays of channels called connexons, which penetrate the cell membranes of two neighboring cells and create a continuous pathway for the passage of materials from one cytoplasm to the other. Each connexon is formed by the assembly of six proteins called connexins, which are encoded by different genes and vary in their biophysical properties. Gap junctions play crucial roles in many physiological processes, including the coordination of electrical activity in excitable tissues, the regulation of cell growth and differentiation, and the maintenance of tissue homeostasis. Mutations or dysfunctions in gap junction channels have been implicated in various human diseases, such as cardiovascular disorders, neurological disorders, skin disorders, and cancer.
'Rana pipiens', also known as the Northern Leopard Frog, is not a medical term, but a species of frog native to North America, which is sometimes used in scientific research and teaching, but does not have direct medical relevance itself.
"Rana pipiens" is not a medical term. It is the scientific name for the Northern Leopard Frog, a species of frog that is native to North America. This frog is commonly found in wetlands and near bodies of water in fields and forests. The Northern Leopard Frog is a smooth-skinned frog with large, well-defined spots on its back and legs. It is a common subject of study in biology and ecology due to its widespread distribution and adaptability to different habitats.
If you have any medical concerns or questions, it's best to consult with a healthcare professional for accurate information.
Neuromuscular junction disease
... is a medical condition where the normal conduction through the neuromuscular junction fails to ... Neuromuscular junction diseases can also be referred to as end plate diseases or disorders.[citation needed] Among ... Immune-mediated diseases include a variety of diseases not only affecting the neuromuscular junction. Immune-mediated disorders ... Toxic diseases are a result of a form of poison that effects neuromuscular junction functioning. Most commonly animal venom or ...
Neuromuscular junction
... diseases can be of genetic and autoimmune origin. Genetic disorders, such as Congenital myasthenic ... crayfish and fruit flies have a glutamatergic neuromuscular junction. AChRs at the skeletal neuromuscular junction form ... Finsterer J, Papić L, Auer-Grumbach M (October 2011). "Motor neuron, nerve, and neuromuscular junction disease". Curr. Opin. ... A neuromuscular junction (or myoneural junction) is a chemical synapse between a motor neuron and a muscle fiber. It allows the ...
Action potential
Hirsch NP (July 2007). "Neuromuscular junction in health and disease". British Journal of Anaesthesia. 99 (1): 132-8. doi: ... A special case of a chemical synapse is the neuromuscular junction, in which the axon of a motor neuron terminates on a muscle ... Muscle action potentials are provoked by the arrival of a pre-synaptic neuronal action potential at the neuromuscular junction ... Hughes BW, Kusner LL, Kaminski HJ (April 2006). "Molecular architecture of the neuromuscular junction". Muscle & Nerve. 33 (4 ...
Polyneuropathy in dogs and cats
"Diseases of the Peripheral Nerve and Neuromuscular Junction: Degenerative Diseases". The Merck Veterinary Manual. 2006. ... "Diseases of the Peripheral Nerve and Neuromuscular Junction: Metabolic Disorders". The Merck Veterinary Manual. 2006. Retrieved ... "Diseases of the Peripheral Nerve and Neuromuscular Junction: Inflammatory Disorders". The Merck Veterinary Manual. 2006. ... 159-160, ISBN 978-1-4051-2814-8. (CS1 maint: location, Use dmy dates from March 2014, Dog diseases, Cat diseases). ...
Chronaxie
Electromyography is used to diagnose neuropathies, myopathies, and neuromuscular junction diseases. Chronaxie is increased in ...
Electromyoneurography
"Interpretation of electroneuromyographic studies in diseases of neuromuscular junction and myopathies". Neurology India. 56 (3 ... One example of its use is to detect neuropathy due to diseases like diabetes mellitus. It can also be used to detect muscle ... use proves to be clinically relevant by allowing for both the source and location of a particular neuromuscular disease to be ... A decreased amplitude or duration may indicate nerve damage due to a muscle diseases, whereas an increase in these demonstrates ...
Bienfang's test
Myasthenia gravis is an autoimmune disease involving the neuromuscular junction leading to skeletal muscle weakness and ... Ocular myasthenia Myasthenia gravis Cogan, DG (1965). "Myasthenia gravis: a review of the disease and a description of lid ... whereas the CLT test may only be positive in individuals with more pronounced disease. ...
Ambenonium chloride
Ambenonium is used to treat muscle weakness due to disease or defect of the neuromuscular junction (myasthenia gravis). ... This, in turn, facilitates transmission of impulses across the myoneural junction and effectively treats the disease. ... and thus inhibits signal transmission across the neuromuscular junction. Ambenonium reversibly binds acetylcholinesterase, ...
List of neuromuscular disorders
Myoneural junction and neuromuscular diseases). ... GSD type II (Pompe disease) GSD type V (McArdle disease) GSD ... van Adel, BA; Tarnopolsky, MA (March 2009). "Metabolic myopathies: update 2009". Journal of Clinical Neuromuscular Disease. 10 ... mtDNA deletion Glycogen storage diseases (GSD) are a group of diseases caused by mutations related to glycogen metabolism. ... Mitochondrial myopathies are diseases caused by mutations related to mitochondria, and thus are generally inherited from the ...
Myasthenia gravis
Autoimmune diseases, Myoneural junction and neuromuscular diseases, Wikipedia neurology articles ready to translate, Wikipedia ... Myasthenia gravis is an autoimmune disease of the neuro-muscular junction which results from antibodies that block or destroy ... Myasthenia gravis (MG) is a long-term neuromuscular junction disease that leads to varying degrees of skeletal muscle weakness ... Neuromuscular junction: 1. Axon 2. Muscle cell membrane 3. Synaptic vesicle 4. Nicotinic acetylcholine receptor 5. ...
Margaret Ransone Murray
Murray's later work examined the functional differentiation of neuro-muscular junctions, to understand degenerative diseases of ... Veneroni, Giorgio; Murray, Margaret R. (1969). "Formation de novo and development of neuromuscular junctions in vitro". Journal ... role of circulating demyelinating factors that contribute to neurological degeneration in multiple sclerosis and other diseases ...
Ocular myasthenia
... gravis (MG) is a disease of the neuromuscular junction resulting in hallmark variability in muscle weakness ... At the neuromuscular junction, this electrical message is converted into a chemical message as acetylcholine is released from ... but has been shown to be helpful in young MG patients with acute disease within 3 years of disease onset, in patients with ... and is likely associated with thyroid disease, thymomas (20% incidence), and other autoimmune diseases such as scleroderma, ...
Flightless fruit fly
Myoneural junction and neuromuscular diseases, Pet foods, Insect common names). ... Lloyd, T. E. and Taylor, J. P. (2010), Flightless flies: Drosophila models of neuromuscular disease. Annals of the New York ... Flightless fly models have been especially useful for the study of human neuromuscular diseases such as spinal muscular atrophy ... dystrophinopathies and other inherited neuromuscular diseases. Applications of flightless flies are extremely varied, even ...
Amikacin
... amikacin's paralytic effect on neuromuscular junctions can worsen muscle weakness. Side-effects of amikacin are similar to ... While the half-life of amikacin is normally two hours, it is 50 hours in those with end-stage renal disease. The majority (95 ... ISBN 978-0-12-411492-0. "FDA approves a new antibacterial drug to treat a serious lung disease using a novel pathway to spur ... Infectious Diseases. 10 (9): 621-629. doi:10.1016/S1473-3099(10)70139-0. PMID 20797644. Ahmad S, Mokaddas E (1 March 2014). " ...
Polyneuropathy
... molecular mechanisms affecting neuromuscular junction stability in the presymptomatic stages of the disease". Frontiers in ... Hereditary neuropathy with liability to pressure palsy Mononeuropathy Neuritis Neuromuscular disease Neuromuscular medicine ... one also needs to know what disorders are present within the family and what diseases the person may have. Although diseases ... It is the most common response of neurons to metabolic or toxic disturbances, and may be caused by metabolic diseases such as ...
Alpha motor neuron
Diseases that impair signaling between α-MNs and extrafusal muscle fibers, namely diseases of the neuromuscular junction have ... For example, myasthenia gravis is an autoimmune disease that prevents signaling across the neuromuscular junction, which ... The axon of an α-MN connects with its extrafusal muscle fiber via a neuromuscular junction, a specialized type of chemical ... while the neuromuscular junction uses acetylcholine exclusively. Acetylcholine is sensed by nicotinic acetylcholine receptors ...
Mitochondrial myopathy
Myoneural junction and neuromuscular diseases, Mitochondrial diseases). ... On biopsy, the muscle tissue of patients with these diseases usually demonstrate "ragged red" muscle fibers. These ragged-red ... Although no cure currently exists, there is hope in treatment for this class of hereditary diseases trials continue. Metabolic ... Mitochondrial myopathies are types of myopathies associated with mitochondrial disease. ...
Central core disease
Myoneural junction and neuromuscular diseases, Autosomal dominant disorders). ... Central core disease (CCD), also known as central core myopathy, is an autosomal dominant inherited muscle disorder present ... "central core disease" at Dorland's Medical Dictionary Talwalkar, SS; Parker, JR; Heffner, RR; Parker, JC (2006). "Adult central ... 2003). "Central core disease: clinical, pathological, and genetic features". Arch. Dis. Child. 88 (12): 1051-5. doi:10.1136/adc ...
Adrenergic release inhibitor
"Blockers of the Neuromuscular Junction as Antihypertensive Agents". Hypertensive Cardiovascular Disease: Pathophysiology and ...
Myotonic dystrophy
Myoneural junction and neuromuscular diseases, Trinucleotide repeat disorders, Wikipedia medicine articles ready to translate, ... "Myotonic dystrophy kinase is a component of neuromuscular junctions". Hum. Mol. Genet. 2 (11): 1889-94. doi:10.1093/hmg/2.11. ... "Exercise therapy and other types of physical therapy for patients with neuromuscular diseases: a systematic review". Arch Phys ... "Construction of a Quality of Life Questionnaire for slowly progressive neuromuscular disease". Qual Life Res. 24 (11): 2615-23 ...
Neuropathy (disambiguation)
Encephalopathy Myelopathy Radiculopathy Neuromuscular junction disease Myopathy See also Charcot-Marie-Tooth disease ...
Paramyotonia congenita
Myoneural junction and neuromuscular diseases, Rare diseases). ... This disease can also present as hyperkalemic periodic ... A European Neuromuscular Center Workshop held 4-6 October 1992, Ulm, Germany". Neuromuscul Disord. 3 (2): 161-8. doi:10.1016/ ... A European Neuromuscular Center Workshop held 4-6 October 1992, Ulm, Germany". Neuromuscul Disord. 3 (2): 161-8. doi:10.1016/ ... Paramyotonia congenita (PC) is a rare congenital autosomal dominant neuromuscular disorder characterized by "paradoxical" ...
Neuromyotonia
Rare diseases, Myoneural junction and neuromuscular diseases). ... usually caused by antibodies against the neuromuscular junction ... However, because NMT mimics some symptoms of motor neuron disease (ALS) and other more severe diseases, which may be fatal, ... Their causative role has been established in some of these diseases but not all. Neuromyotonia is considered to be one of these ... From there, a patient is likely to be referred to a neurologist or a neuromuscular specialist. The neurologist or specialist ...
Dysarthria
... or the neuromuscular junction (in diseases such as myasthenia gravis) which block the nervous system's ability to activate ... Lyme disease Stroke Tay-Sachs disease, and late-onset Tay-Sachs disease (LOTS) Transient ischemic attack, a 'mini stroke' ... Huntington's disease, Niemann-Pick disease, and Friedreich's ataxia.[citation needed] Toxic and metabolic conditions include: ... Lechtenberg, R.; Gilman, S. (1978). "Speech Disorders in Cerebellar Disease" (PDF). Ann. Neurol. 3 (4): 285-290. doi:10.1002/ ...
Muscular dystrophy
Myoneural junction and neuromuscular diseases, Wikipedia medicine articles ready to translate). ... Muscular dystrophies (MD) are a genetically and clinically heterogeneous group of rare neuromuscular diseases that cause ... Muscle and Neuromuscular Junction Disorders): 1916-1931. doi:10.1212/CON.0000000000000399. PMC 5898965. PMID 27922500. " ... Disability rights advocates, however, have criticized the telethon for portraying those living with the disease as deserving ...
Thyrotoxic myopathy
Myoneural junction and neuromuscular diseases). ... was observed within the neuromuscular junction. This decrease ... consider basic neuromuscular junction function. Under normal circumstances, muscle contraction occurs when electrical impulses ... Graves' disease is an autoimmune condition where the immune system chronically stimulates the TSH receptor in the thyroid and ... Neuromuscular Disorders 5:47-52 1995. Chiu WY, Yang CC, Huang IC, Huang TS. Dysphagia as a manifestation of thyrotoxicosis: ...
Periodic paralysis
Myoneural junction and neuromuscular diseases, Channelopathies, Rare diseases). ... These diseases are not the same as having a very low level of potassium (hypokalemia) or high potassium (hyperkalemia) and must ... This disease is unusually difficult to diagnose. Patients often report years of wrong diagnosis and treatments that made them ... Periodic paralysis is a group of rare genetic diseases that lead to weakness or paralysis from common triggers such as cold, ...
Ullrich congenital muscular dystrophy
Myoneural junction and neuromuscular diseases, Collagen disease, Diseases named for discoverer, Rare diseases). ... "Ullrich congenital muscular dystrophy , Disease , Treatment , Genetic and Rare Diseases Information Center (GARD) - an NCATS ... Kelly, Evelyn B. (2013-01-07). Encyclopedia of Human Genetics and Disease [2 volumes]. ABC-CLIO. ISBN 9780313387142. ... of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular and ...
X-linked myotubular myopathy
Myoneural junction and neuromuscular diseases, Rare diseases). ... It is one of the severest congenital muscle diseases and is ...
Zaspopathy
Rare diseases, Myoneural junction and neuromuscular diseases, All stub articles, Musculoskeletal disease stubs). ... The disease encompasses multiple forms of both distal and proximal myopathies, and is caused by mutations in the gene referred ...
MyastheniaDisordersSynapseAutoimmuneLambert-Eaton MyMyasthenic SyndromesMyopathySynapsesSyndromesPathwaysPresynapticDisorderNervous systemPeripheral nerveBotulismWeaknessNeurologicalAmyotrophicToxinsAntibodiesPhysiologicallyNerveSkeletal2023FunctionalDegenerationClinicalMitochondrial diseasesGeneticsMechanismsMuscle fiberBulbar muscular atrophyNervesSBMATransmissionAssayNeurologyMutationsNeuroinflammationMuscular dystrophyProgressionLEMSCentersClassificationClinicPatientsSymptomsMotorNeuronGenetic diseasesSubset
Myasthenia17
- In diseases such as myasthenia gravis, the end plate potential (EPP) fails to effectively activate the muscle fiber due to an autoimmune reaction against acetylcholine receptors, resulting in muscle weakness and fatigue. (wikipedia.org)
- The most studied diseases affecting the human acetylcholine receptor are myasthenia gravis and some forms of congenital myasthenic syndrome. (wikipedia.org)
- citation needed] The neuromuscular junction diseases present within this subset are myasthenia gravis, and Lambert-Eaton syndrome. (wikipedia.org)
- Myasthenia gravis is an autoimmune disease from the neuromuscular junction (NMJ) due to antibodies that assault Maraviroc the different parts of the postsynaptic membrane impair neuromuscular transmitting and result in weakness and exhaustion of skeletal muscle tissue. (healthweeks.com)
- Her current commitments include improving the diagnosis and treatment of adult and pediatric patients with neuromuscular diseases, especially Duchenne Muscular Dystrophy, myasthenia gravis, ALS, limb girdle muscular dystrophies, myotonic dystrophy, FSHD, and spinal muscular atrophy. (rochester.edu)
- She has national and international expertise in conducting clinical trials in adult and pediatric neuromuscular diseases including Duchenne Muscular Dystrophy, Myasthenia Gravis, periodic paralyses, nondystrophic myotonias, myotonic dystrophy and FSHD. (rochester.edu)
- Myasthenia gravis (MG) is an antibody-mediated autoimmune disease of the neuromuscular junction. (nih.gov)
- They may be associated with myasthenia gravis, a disease of the neuromuscular junctions. (mountsinai.org)
- Myasthenia gravis (MG) is an autoimmune disease of the neuromuscular junction in which circulating antibodies cause fluctuant skeletal muscle weakness. (medscape.com)
- [ 1 , 2 ] Ninety percent of patients with myasthenia gravis develop ophthalmologic manifestations of the disease, a disorder of neuromuscular transmission characterized by weakness and fatigability of skeletal muscles. (medscape.com)
- Myasthenia gravis (MG) is an autoimmune disease causing muscle weakness due to impaired transmission at the neuromuscular junction. (tidsskriftet.no)
- Behandling av pasienter med myasthenia gravis er en spesialistoppgave, men alle leger vil kunne komme i kontakt med pasientgruppen i forbindelse med andre tilstander. (tidsskriftet.no)
- Nedenfor gir vi en oversikt over de vanligste medikamentene som kan utløse eller forverre myasthenia gravis (fig 1). (tidsskriftet.no)
- This research has led us into rare diseases like myasthenia gravis, where patients typically suffer fatigue and a combination of symptoms impacting their quality of life, their ability to be active and function," Charl explains. (pharmaphorum.com)
- Rare disease database: Myasthenia gravis. (firdapsehcp.com)
- The document notes that acquired myasthenia gravis is a disorder of neuromuscular transmission, resulting from binding of autoantibodies to components of the neuromuscular junction, most commonly the acetylcholine receptor. (medscape.com)
- A neurologist described these clinical findings as consistent with myasthenia gravis or Miller Fisher syndrome, a rare, acquired nerve disease that is considered to be a variant of Guillain-Barré syndrome. (cdc.gov)
Disorders11
- Neuromuscular junction diseases can also be referred to as end plate diseases or disorders. (wikipedia.org)
- citation needed] Among neuromuscular diseases some can be autoimmune disease, or hereditary disorders. (wikipedia.org)
- She has a clinical research interest in the best treatment of patients with Duchenne Muscular Dystrophy, the course and outcome of pregnancy in women with muscular dystrophies, and sleep disorders in neuromuscular diseases. (rochester.edu)
- [ 1 ] beginning with a summary of key general considerations, proceeding to a review of the main neurologic complications that may arise in pregnant people who were previously free of neurologic disease, and concluding with a discussion of individual neurologic disorders in the context of pregnancy. (medscape.com)
- Considerable scientific progress across neurological diseases and disorders was reported at the recent 74th American Academy of Neurology (AAN) Annual Meeting. (pharmaphorum.com)
- Evoli A, Vincent A. Disorders of neuromuscular transmission. (adam.com)
- Warner WC, Sawyer JR. Neuromuscular disorders. (adam.com)
- The molecular pathways of these lysosomal storage disorders and their relation to Parkinson's disease are not fully understood. (neuroproof.com)
- An excess of exogenous corticosteroid can result from steroid treatment for asthma, chronic obstructive pulmonary disease, and inflammatory processes, such as polymyositis, connective tissue disorders, and rheumatoid arthritis. (medscape.com)
- Disorders of neuromuscular transmission due to natural environmental toxins. (firdapsehcp.com)
- In addition to the acquired causes, inherited disorders like hereditary sensory-autonomic neuropathy (HSAN), familial amyloid polyneuropathy (FAP), Tangier disease, and Fabry disease also exist. (medscape.com)
Synapse11
- The neuromuscular junction is a specialized synapse between a neuron and the muscle it innervates. (wikipedia.org)
- In the neuromuscular junction, the diseases will either act on the presynaptic membrane of the motor neuron, the synapse separating the motor neuron from the muscle fiber, or the postsynaptic membrane (the muscle fiber). (wikipedia.org)
- We developed healthy and diseased frog and mouse neuromuscular synapse models. (aps.org)
- MuSK antibodies are predominantly IgG4 and cause disassembly of the neuromuscular junction by disrupting the physiological Maraviroc function of MuSK in synapse maintenance and adaptation. (healthweeks.com)
- MuSK mediates the agrin-induced clustering of AChRs during synapse formation, and is also expressed at the mature neuromuscular junction. (nih.gov)
- The neuromuscular junction is a reliable synapse in which reliability derives from the summed activity of numerous unreliable elements, each consisting of a synaptic vesicle and associated voltage gated calcium channels (VGCCs). (psc.edu)
- The neuromuscular junction (NMJ) is a tripartite synapse comprised of an α-motor neuron (the presynapse), extrafusal muscle fiber (the postsynapse), and specialized synaptic glia called perisynaptic Schwann cells (PSCs) or terminal Schwann cells. (elifesciences.org)
- Neuromuscular junction (NMJ) is the functional contact (synapse) between an axon of motor neuron and muscle fiber. (intechopen.com)
- So, according to numerous studies, not only ACh (which by the way does not always lead to a contraction of the muscle fiber) is released in the vertebrate neuromuscular synapse, but also a number of other synaptically active molecules. (intechopen.com)
- However, the neuromuscular junction is a specific synapse between the motor neuron and the muscle fiber. (scopeheal.com)
- Thus, the neuromuscular junction is a connection or synapse between the somatic motor neuron and the muscle fiber, where the transformation of a chemical impulse to an electrical stimulation causes the contraction of the muscle fiber. (scopeheal.com)
Autoimmune6
- Autoimmune diseases occur when the body's immune system begins to target its own cells, often causing harmful effects. (wikipedia.org)
- reference 26) In each of these diseases, a receptor or other protein essential to normal function of the junction is targeted by antibodies in an autoimmune attack by the body. (wikipedia.org)
- Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune disease that reduces reliability, leading to muscle weakness. (psc.edu)
- This article gives an overview of some autoimmune neurologic diseases and explores the clinical evidence supporting the use of IVIG. (nursingcenter.com)
- It has the potential to bind many common pathogens and modulate a wide range of effectors of autoimmune disease. (nursingcenter.com)
- Patient A had been treated for 12 days for suspected autoimmune disease. (cdc.gov)
Lambert-Eaton My2
- We used our control MCell model (validated by its ability to predict physiology) as a starting point for modeling the current treatments for the neuromuscular disease Lambert-Eaton Myasthenic Syndrome (LEMS). (aps.org)
- Long-term disease history, clinical symptoms, health status, and healthcare utilization in patients suffering from Lambert Eaton myasthenic syndrome: results of a patient interview survey in Germany. (firdapsehcp.com)
Myasthenic Syndromes2
- Congenital Myasthenic Syndromes (CMSs) are rare inherited diseases of the neuromuscular junction characterized by muscle weakness. (istem.eu)
- Congenital myasthenic syndromes are rare genetic diseases involving pathologic proteins in the neuromuscular junction. (bvsalud.org)
Myopathy2
- A myopathy is a muscle disease unrelated to any disorder of innervation or neuromuscular junction. (medscape.com)
- Steroid myopathy is usually an insidious disease process that causes weakness mainly to the proximal muscles of the upper and lower limbs and to the neck flexors. (medscape.com)
Synapses6
- Further, degeneration of neuromuscular junctions, of synapses, and of axonal regions are features of SMA disease. (nih.gov)
- Statistical data analysis revealed 65 specific alterations in the proteome of the central synapses at the early onset stage of disease. (nih.gov)
- These pathways represent potential targets for therapy development with the goal of providing stability to the central synapses, thereby preserving neuronal integrity in the context of SMA disease. (nih.gov)
- Synapses and neuromuscular junctions are physiologically similar processes. (scopeheal.com)
- We are also interested in the formation and regulation of synapses at the neuromuscular junction, work that may provide insights into the causes of neurodegenerative diseases. (sfu.ca)
- Making the connection - shared molecular machinery and evolutionary links underlie the formation and plasticity of occluding junctions and synapses. (sfu.ca)
Syndromes1
- This category divides neuromuscular diseases into three broad categories: immune-mediated disease, toxic/metabolic and congenital syndromes. (wikipedia.org)
Pathways3
- The first relies on its mechanism of action, or how the action of the diseases affects normal functioning (whether it is through mutations in genes or more direct pathways such as poisoning). (wikipedia.org)
- Charl believes we are witnessing the 'decade of the brain' with significant leaps in scientific understanding of disease pathways and genetic correlations. (pharmaphorum.com)
- Neuroinflammation looks at the neuromuscular junction with inflammation where different pathways get expressed in different diseases and may cause dysfunctionality. (pharmaphorum.com)
Presynaptic2
- They can affect either presynaptic mechanisms or postsynaptic mechanisms, preventing the junction from functioning normally. (wikipedia.org)
- Besides nerve localization in the peripheral nervous system, it occurs in diseases of the presynaptic neuromuscular junction such as botulism and myasthenic syndrome. (medscape.com)
Disorder2
- The diagnosis and care of a neuromuscular disorder can be challenging. (chihealth.com)
- Malignant hyperthermia susceptibility is a genetic disorder involving a hypermetabolic response to volatile anesthetics and depolarizing neuromuscular blocking agents. (bvsalud.org)
Nervous system2
- With thousands of clinical trials to date, gene therapy is a flourishing strategy with great promise for the treatment of diseases impacting the nervous system. (frontiersin.org)
- A change in an animal's ability to sense its environment can be caused by disease in either the central nervous system or the peripheral nervous system. (merckvetmanual.com)
Peripheral nerve1
- Its use is supported by a series of randomized and controlled trials assessing diseases that affect the peripheral nerve, neuromuscular junction, and skeletal muscle. (nursingcenter.com)
Botulism4
- Other diseases include the Lambert-Eaton syndrome and botulism. (wikipedia.org)
- Predisposing factors for enteric botulism in children ≥ 1 year of age and in adults include previous bowel or gastric surgery, anatomic bowel abnormalities, Crohn disease, inflammatory bowel disease, antimicrobial therapy, and immunosuppressive medications. (merckmanuals.com)
- Botulinum neurotoxins (BoNTs) are bacterial proteins that cause the life-threatening disease botulism 1 . (cdc.gov)
- Foodborne botulism is a rare disease typically caused by consumption of improperly prepared and processed foods, including low-acid canned vegetables. (cdc.gov)
Weakness6
- These antibodies cause loss of AChR numbers and function, and lead to failure of neuromuscular transmission with muscle weakness. (nih.gov)
- The serum level of creatinine starts to decrease before the onset of muscle weakness, followed by the emergence of hand tremor, a prodromal sign of the disease. (kennedysdisease.org)
- Nonetheless, the definition of ocular MG proposed by consensus is based on any ocular muscle weakness attributed to MG at a specified point in time and not dependent on the duration of disease. (medscape.com)
- Based on a literature search in PubMed and the authors' own clinical experiences, we provide an overview focusing on the most frequently used drugs that may exacerbate weakness in patients with MG. In our experience, symptomatic MG-patients who have a generalised disease are especially vulnerable to drug-induced exacerbations, while stable MG patients with few symptoms more seldom are. (tidsskriftet.no)
- Neuromuscular diseases affect nerves and muscles, and can cause sensory loss, weakness and even loss of muscle control. (chihealth.com)
- In motor neuron diseases, nerve cells called motor neurons progressively lose function and cause weakness. (chihealth.com)
Neurological4
- Development of a diagnostic framework for vestibular causes of dizziness and unsteadiness in patients with multisensory neurological disease: a Delphi consensus. (ucl.ac.uk)
- Patients with Gaucher's disease also experience neurological symptoms that can not be treated by enzyme replacement or substrate reduction therapies because of their missing capacity to cross the blood-brain barrier. (neuroproof.com)
- The providers at the CHI Health Neurological Institute understand that quality of life is important and that neuromuscular diseases can make every day things like walking, talking and breathing more difficult. (chihealth.com)
- The Neurological Institute at CHI Health Immanuel offers routine clinic visits with our neuromuscular specialist to determine the best treatment options for each individual patient. (chihealth.com)
Amyotrophic2
- The complement system is a crucial component of innate immunity and is associated with pathogenesis of numerous diseases, including amyotrophic lateral sclerosis (ALS). (mdaconference.org)
- Adducin at the neuromuscular junction in amyotrophic lateral sclerosis: hanging on for dear life. (sfu.ca)
Toxins1
- These toxins inhibit the release of neurotransmitters at the neuromuscular junction by cleaving soluble NSF attachment protein receptor (SNARE) complex proteins in nerve cells, which prevents the fusion of neurotransmitter containing vesicles to cell membranes 2 . (cdc.gov)
Antibodies4
- Here we discuss how knowledge of neuromuscular junction structure and function has fed into understanding the mechanisms of AChR and MuSK antibodies. (healthweeks.com)
- AChR antibodies are typically of the immunoglobulin (Ig)G1 and IgG3 (human) subclasses can lead to complement-mediated attack and being able to bind divalently to adjacent AChRs around the muscle surface can also increase the rate of AChR internalisation (for a review of the earlier history of MG research see 2 The resulting loss of AChRs at the neuromuscular junction (NMJ) impairs neuromuscular transmission (see Physique 1). (healthweeks.com)
- outlined in 4 help define post-synaptic mechanisms in both AChR and MuSK antibody forms of the disease but models are required to study the effects of the antibodies around the Maraviroc electrophysiology of neuromuscular transmission. (healthweeks.com)
- Our results indicate the involvement of MuSK antibodies in the pathogenesis of AChR-Ab-seronegative MG, thus defining two immunologically distinct forms of the disease. (nih.gov)
Physiologically1
- New GBA mutation-based disease models open opportunities for more physiologically adequate screening methods. (neuroproof.com)
Nerve4
- When the nerve is usually electrically stimulated neuromuscular transmission can be detected as a brief rise in membrane potential called the endplate potential (EPP 5 Spontaneous miniature EPPs (mEPPs) which are much smaller in amplitude than the (evoked) EPP provide a measure of the response of the postsynaptic AChRs to release of a single synaptic vesicle-load (quantum) of acetylcholine. (healthweeks.com)
- Muscles contain the synaptic connection between lower motor neurons and muscle fibers, i.e., the neuromuscular junction (NMJ), as well as specialized sensory nerve endings (e.g., muscle spindles). (frontiersin.org)
- This neuromuscular junction plays an elementary role in transmitting nerve signals or impulses from the motor neuron to the muscle fiber that causes muscle contraction. (scopeheal.com)
- Thus, we can say that the neuromuscular junction is associated with the motor neuron or nerve cell and muscle fiber. (scopeheal.com)
Skeletal2
- The human-on-a-chip neuromuscular system is an in vitro platform with superoxide dismutase (SOD1) (E100G) or TAR DNA binding protein (TDP-43) motoneurons derived from iPSCs and wild-type (WT) microglia separated by microtunnels from iPSC-derived SOD1 (E100G) skeletal muscle, Schwann cells, and THP-1 monocytes/macrophages. (mdaconference.org)
- Glycogen storage disease type III (GSDIII) is a rare inborn error of metabolism affecting liver, skeletal muscle, and heart due to mutations of the AGL gene encoding for the glycogen debranching enzyme (GDE). (istem.eu)
20231
- In 2023, advancing research on rare and ultra-rare monogenic diseases requires the mobilization of significant human and technological resources. (istem.eu)
Functional5
- We obtained a comprehensive MCell model, which provides a detailed understanding of the relationship between AZ structural changes caused by LEMS, and the resulting functional disease state. (psc.edu)
- In the new journal article, researchers from UCF and Cornell University describe a functional neuromuscular junction (NMJ) disease model comprising motoneurons derived from induced pluripotent stem cells (iPSCs) of ALS patients and wild type primary human muscle fibers housed in a compartmentalized chambered system. (neurosciencenews.com)
- A functional mini-GDE transgene corrects impairment in models of glycogen storage disease type III. (istem.eu)
- Cortical neurons derived from this disease cell line showed clear functional different activity patterns compared to a wild-type cell line. (neuroproof.com)
- NeuroProof expands its human iPSC-derived functional disease models with GBA mutation cell lines. (neuroproof.com)
Degeneration1
- Animal studies also suggest that hyperactivation of Src, alteration of autophagy and a mitochondrial deficit underlie the neuromuscular degeneration in SBMA and provide alternative therapeutic targets. (kennedysdisease.org)
Clinical3
- In this review, we discuss our current understanding of the contribution of NMJ dysfunction in SMA disease pathogenesis, and also provide an overview of therapies currently under preclinical and clinical development for treatment of SMA. (benthamscience.com)
- She has been involved in clinical care, research, education and advocacy related to neuromuscular diseases for the past 15 years. (rochester.edu)
- His focus is basic, translational, and clinical research on Huntington's Disease, as well as invertebrate neuromuscular junction research. (nih.gov)
Mitochondrial diseases1
- She trained at Columbia University in mitochondrial diseases, then at Duke University where she completed her Neurology Residency and Neuromuscular/EMG Fellowships. (rochester.edu)
Genetics1
- Neuromuscular disease genetics in underrepresented populations: increasing data diversity. (ucl.ac.uk)
Mechanisms3
- Drugs may interfere with the neuromuscular transmission through several mechanisms, either by affecting pre- or postsynaptic ion channels or by affecting acetylcholinesterase. (tidsskriftet.no)
- We are currently pursuing two different mechanisms to address that disease, a complement inhibitor and an anti-FcRn, that essentially aim to reduce inflammation and create normal functionality for MG patients. (pharmaphorum.com)
- TDP-43 proteins play an essential role in the mechanisms of this severe disease. (neuroproof.com)
Muscle fiber1
- It is called the neuromuscular junction that occurs between the motor neuron and the muscle fiber. (scopeheal.com)
Bulbar muscular atrophy1
- Kennedy's disease or spinal bulbar muscular atrophy is a rare, inherited and slowly progressive multisystem disease mostly manifesting with a motor neuron disease phenotype leading to disability. (kennedysdisease.org)
Nerves1
- ALS is a progressive disease that damages nerves and over time causes the loss of muscle control and eventual death. (neurosciencenews.com)
SBMA2
- Moreover, USP7 knockdown suppressed disease phenotypes in SBMA and spinocerebellar ataxia type 3 (SCA3) fly models, and monoallelic knockout of Usp7 ameliorated several motor deficiencies in transgenic SBMA mice. (kennedysdisease.org)
- These observations suggest that the CIC-2 currents are affected in SBMA, an alteration that may contribute and potentially determine the pathophysiology of the disease. (kennedysdisease.org)
Transmission1
- Assessing neuromuscular transmission. (healthweeks.com)
Assay1
- Detection of in situ protein-protein complexes at the Drosophila larval neuromuscular junction using proximity ligation assay. (sfu.ca)
Neurology1
- Dr. Ciafaloni is a Professor of Neurology and Pediatrics who specializes in the diagnosis and treatment of Neuromuscular Diseases in adults and children. (rochester.edu)
Mutations5
- To our knowledge, this is the first study to demonstrate that while different ALS mutations display various phenotypes, all have the common point-of-origin deficit at the NMJ for each mutation, which is useful for not only the familial form of the disease but potentially sporadic as well" said Hickman. (neurosciencenews.com)
- Spinal muscular atrophy is an autosomal recessive neuromuscular disease caused by mutations in the multifunctional protein Survival of Motor Neuron, or SMN. (istem.eu)
- GBA mutations with relevance in Gaucher's and Parkinson's disease. (neuroproof.com)
- GBA mutations of the glucocerebrosidase enzyme (GCase) are responsible for Gaucher's disease but are also relevant in Parkinson's disease. (neuroproof.com)
- Heterozygous and homozygous mutations cause different symptoms and severity of diseases. (neuroproof.com)
Neuroinflammation1
- Upregulation of complement proteins in ALS rodent models has been linked to neuroinflammation, although the contribution of disease progression is still unclear. (mdaconference.org)
Muscular dystrophy1
- For more detailed, up-to-date information about a specific disease, visit the Muscular Dystrophy Association's disease information centers . (globalgenes.org)
Progression3
- This study using a human-on-a-chip model is anticipated to generate the earliest evidence that modulating C3 has a role in ALS disease progression. (mdaconference.org)
- Evaluation of muscle and fat using MRI, in addition to biochemical indices such as serum creatinine level, are promising biomarkers to track the disease progression. (kennedysdisease.org)
- During your visit, you will be evaluated by our team and they work together to identify the areas that need to be addressed to maximize quality of life and independence throughout the continuum of disease progression. (chihealth.com)
LEMS1
- We have used a combination of electrophysiological recording and MCell computer simulations to examine structure-function relationships, the disease LEMS, and novel LEMS treatment strategies. (psc.edu)
Centers6
- Centers for Disease Control and Prevention. (cdc.gov)
- The Centers for Disease Control and Prevention (CDC) cannot attest to the accuracy of a non-federal website. (cdc.gov)
- Between 12,000-15,000 people in the nation are diagnosed with ALS with about 5,000 new cases every year, according to the Centers for Disease Control and Prevention. (neurosciencenews.com)
- The centers also include a collection of current news articles and other content on the MDA website relating to each disease. (globalgenes.org)
- 1 Division of Laboratory Science, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, Georgia 30341. (cdc.gov)
- 2 Battelle Memorial Institute under contract for Centers for Disease Control and Prevention, Atlanta, Georgia, 30341. (cdc.gov)
Classification1
- citation needed] The second classification method divides the diseases according to the location of their disruption. (wikipedia.org)
Clinic1
- She is Co-Director of the MDA Neuromuscular Clinic and Program Director of the ACGME Accredited Neuromuscular Medicine Fellowship Program. (rochester.edu)
Patients7
- Diabetes Mellitus in Dogs and Cats Diabetes mellitus is a common endocrine disease in dogs and cats, occurring in about 1 of every 300 patients. (merckvetmanual.com)
- [ 9 ] Hence, patients who keep having strictly ocular symptoms for 3 or more years are unlikely to revert to the generalized aspect of the disease. (medscape.com)
- About 50% of patients present solely with ocular symptoms, and about 50-60% of these patients will progress to develop generalized disease. (medscape.com)
- Pembrolizumab (Keytruda), a humanized monoclonal anti-PD-1 antibody, is the first anti-PD-1 antibody approved by the FDA for the treatment of patients with unresectable or metastatic melanoma, non-small-cell lung cancer (NSCLC), head and neck squamous cell carcinoma, cervical cancer, colorectal cancer, and gastric/gastroesophageal junction cancer [ 4 - 10 ]. (hindawi.com)
- To support the wide range of patients this complex disease impacts, who suffer from a diverse range of symptoms, it is critical that research into this area continues. (pharmaphorum.com)
- Phenotypic screening of human iPSC-derived motor neurons from patients with familial history is an excellent opportunity for screening new therapies for this severe disease. (neuroproof.com)
- More than 10% of patients with Parkinson's disease carry a GBA mutation. (neuroproof.com)
Symptoms3
- With its 20-plus year legacy in creating an understanding of this complex disease and the heterogeneous population it affects, UCB went from an initial focus on arresting the symptoms to stopping seizures from happening altogether. (pharmaphorum.com)
- It's really important that people have access to a wide spectrum of therapies, from treating emergencies to relieving symptoms like reducing seizure frequency, to addressing the root cause of the disease. (pharmaphorum.com)
- Treatment will depend on your type of neuromuscular disease and what symptoms you are experiencing. (chihealth.com)
Motor2
- In vertebrates, the neuromuscular junction is always excitatory, therefore to stop contraction of the muscle, inhibition must occur at the level of the efferent motor neuron. (wikipedia.org)
- In this study, the power spectral density of simulated data which contain neuromuscular diseases and normal motor unit (i.e. control group) scenarios was calculated using Welch's method. (arel.edu.tr)
Neuron1
- Neuroproof can now deliver screening services with human iPSC-derived glutamatergic neuron disease models, starting with a GBA null/null mutation and others following soon. (neuroproof.com)
Genetic diseases1
- Some genetic diseases cause the neurons to degenerate slowly and irreversibly in the first year of life. (merckvetmanual.com)
Subset1
- It is important to identify the correct subset of the disease and to use the therapy appropriate for that subset. (medscape.com)