Junction2020Pediatric neuromuscularClinicalMyastheniaDuchenne2021NeurologicalSymptomsGeneticsJunctionsGeneticSpinalNerves and musclesWeaknessMusclesNeurodegenerativeNMDsChronic obstrucAutoimmuneApproachMutationAutosomalPatientsTypicallyGenesCharcot-Marie-TTumorsCongenitalTreatmentPhysical activityAmyotrophic lateral sDiagnosisOccursPeopleMetabolicHereditaryCentersNervous systemOccurRespiratory diseaseJournal of rare diseasesThyroidApneaMolecular
Junction13
- The neuromuscular junction may also be directly involved in diseases such as myasthenia gravis (MG). (medscape.com)
- A neuromuscular disease is any disease affecting the peripheral nervous system (PNS), the neuromuscular junction, or skeletal muscle, all of which are components of the motor unit. (wikipedia.org)
- MG affects the communication between nerves and muscles (the neuromuscular junction). (clevelandclinic.org)
- Nerves (the pitcher) send signals to muscles (the catcher) across a synapse (connection) called the neuromuscular junction. (clevelandclinic.org)
- It is characterized by progressive loss of upper and lower MNs, accompanied by neuromuscular junction denervation. (frontiersin.org)
- An overview of pathophysiology within the neuromuscular apparatus will include disorders of the nerves, neuromuscular junction, and muscle. (eventscribe.net)
- It is called the neuromuscular junction that occurs between the motor neuron and the muscle fiber. (scopeheal.com)
- 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)
- The reason is that muscle cells are very active, and there is a great demand for energy in this neuromuscular junction. (scopeheal.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)
- 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)
20201
- INTRODUCTION/AIMS: In response to coronavirus disease 2019 (COVID-19) pandemic restrictions int 2020, our face-to-face (F2F) multidisciplinary neuromuscular clinic (NMC) transitioned to widespread use of telehealth (TH). (bvsalud.org)
Pediatric neuromuscular2
- Significant advances have been made in the diagnosis and treatment of pediatric neuromuscular diseases. (eventscribe.net)
- Further investigation is required to assess health impacts of TH use in pediatric neuromuscular care. (bvsalud.org)
Clinical9
- Neuromuscular disorders in clinical practice (Second ed. (wikipedia.org)
- The journal is dedicated to providing an open forum for original research in basic science, translational and clinical research that will improve our fundamental understanding and lead to effective treatments of neuromuscular diseases. (iospress.com)
- Human parechovirus has rarely been shown to cause clinical disease in adults. (cdc.gov)
- The company's lead candidate, therapeutic antibody neihulizumab , has demonstrated clinical proof of efficacy in treating multiple autoimmune and immune-mediated diseases. (biospace.com)
- If a high percentage of clinical trials are related to male-centric diseases, it doesn't help women. (biospace.com)
- 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)
- Healthcare providers who work with patients diagnosed with neuromuscular disease (NMD) must consider the impact of these diseases on cognition and behavior, said presenters at a 2019 Clinical & Scientific Conference session focusing on mental health. (mdaquest.org)
- Advances in molecular genetics have help in the discovery of significant information on the relationship between muscle biology and clinical neuromuscular diseases. (medscape.com)
- A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort. (cdc.gov)
Myasthenia5
- Diseases of the motor end plate include myasthenia gravis, a form of muscle weakness due to antibodies against acetylcholine receptor, and its related condition Lambert-Eaton myasthenic syndrome (LEMS). (wikipedia.org)
- The Journal of Neuromuscular Diseases aims to facilitate progress in understanding the molecular genetics/correlates, pathogenesis, pharmacology, diagnosis and treatment of acquired and genetic neuromuscular diseases (including muscular dystrophy, myasthenia gravis, spinal muscular atrophy, neuropathies, myopathies, myotonias and myositis). (iospress.com)
- Myasthenia gravis (MG) is an autoimmune disease, meaning the body's immune system mistakenly attacks its own parts. (clevelandclinic.org)
- What are the types of myasthenia gravis? (clevelandclinic.org)
- They may be associated with myasthenia gravis, a disease of the neuromuscular junctions. (mountsinai.org)
Duchenne4
- The major forms of MD include Duchenne MD (DMD), Becker MD (BMD), limb-girdle MD (LGMD), facioscapulohumeral dystrophy (FSHD), myotonic dystrophy type 1 (DM1), myotonic dystrophy type 2 (DM2), congenital MD (CMD), oculopharyngeal MD (OPMD), distal MD (DMD), and Emery-Dreifuss MD (EDMD). (medscape.com)
- Sleep apnea often affects individuals with other neuromuscular diseases, such as type 1 myotonic muscular dystrophy and Duchenne muscular dystrophy, as well. (bellaonline.com)
- We have evaluated syncoilin in a range of neuromuscular disorders including Duchenne and Becker muscular dystrophy, central core disease, congenital muscular dystrophies, and neurogenic disorders. (ox.ac.uk)
- [ 3 ] Erb's patient had only shoulder-girdle weakness and atrophy, with sparing of other muscles of the body and a benign disease course compared with that described by Duchenne in the 1860s. (medscape.com)
20211
- The immune checkpoint regulator was given Fast Track designation by the U.S. Food and Drug Administration in March 2021 for treatment of steroid-refractory acute graft-versus-host disease (SR-aGVHD). (biospace.com)
Neurological3
- Neurological diseases are different disorders which affect the brain and nervous system. (mdac.ca)
- Development of a diagnostic framework for vestibular causes of dizziness and unsteadiness in patients with multisensory neurological disease: a Delphi consensus. (ucl.ac.uk)
- The other key point of the slide is to show that these diseases are typically either neurological, neurodegenerative, or neuromuscular. (hstalks.com)
Symptoms7
- Our team is made up of different types of doctors and other health care professionals, who work together to identify each patient's needs and control symptoms. (ucsfhealth.org)
- Typically, a predilection exists for distal limbs as the site of disease onset and more severe symptoms and signs. (medscape.com)
- The child was one of six cases in which investigators sequenced -- or decoded -- the genes of patients with Neuromuscular Disease and was then able to identify the genetic source, or likely genetic source, of each child's symptoms. (sciencedaily.com)
- The child was one of six cases in which TGen sequenced -- or decoded -- the genes of patients with Neuromuscular Disease (NMD) and was then able to identify the genetic source, or likely genetic source, of each child's symptoms, according to a study published April 8 in the journal Molecular Genetics & Genomic Medicine . (sciencedaily.com)
- Learning the specific genetic cause of symptoms is a key step in finding new therapeutic drugs that could treat the patient's disease. (sciencedaily.com)
- This means the gene needs to be on each of her two X chromosomes for symptoms of the disease to occur in girls. (christianhospital.org)
- If she has only one faulty gene on one X chromosome, she is a carrier of the disease but will likely not have symptoms. (christianhospital.org)
Genetics2
- Neuromuscular disease genetics in underrepresented populations: increasing data diversity. (ucl.ac.uk)
- The focus of my talk is going to be on the genetics of these diseases, and I'll talk very little about the functional biology of these conditions. (hstalks.com)
Junctions1
- Synapses and neuromuscular junctions are physiologically similar processes. (scopeheal.com)
Genetic16
- Neuromuscular diseases can be acquired or genetic. (wikipedia.org)
- Neuromuscular disease can be caused by autoimmune disorders, genetic/hereditary disorders and some forms of the collagen disorder Ehlers-Danlos syndrome, exposure to environmental chemicals and poisoning which includes heavy metal poisoning. (wikipedia.org)
- Muscular dystrophies, including Duchenne's and Becker's, are a large group of diseases, many of them hereditary or resulting from genetic mutations, where the muscle integrity is disrupted, they lead to progressive loss of strength and decreased life span. (wikipedia.org)
- Genetic testing is an important part of diagnosing inherited neuromuscular conditions. (wikipedia.org)
- Identification of genetic risk loci and causal insights associated with Parkinson's disease in African and African admixed populations: a genome-wide association study. (ucl.ac.uk)
- Now a large and ever increasing number of genetic subtypes has been described, and major advances in molecular and cellular biology have clarified the understanding of the role of different proteins in the physiology of peripheral nerve conduction in health and in disease. (medscape.com)
- 2: autosomal recessive), and an alphabet based on the order of discovery of linkage to a specific, certain genetic locus or a new disease gene. (medscape.com)
- Virus-mediated gene therapy has the potential to deliver exogenous genetic material into specific cell types to promote survival and counteract disease. (frontiersin.org)
- Using state-of-the-art genetic technology, researchers have discovered the likely cause of a child's rare type of severe muscle weakness. (sciencedaily.com)
- This type of next-generation sequencing can greatly improve the ability to identify pathogenic, or disease-causing, genetic variants with a single, timely, affordable test. (sciencedaily.com)
- Without this type of deep genetic analysis, we might never have discovered the source of each of these children's disease," said Dr. Bernes, whose young patients' previous tests included muscle biopsies, EMG, MRI, EKG and limited gene sequencing. (sciencedaily.com)
- Reporting these cases raises awareness about how often each child with muscle disease is unique, requiring personalized medical treatment beginning with genetic diagnosis through sequencing like we perform at TGen. (sciencedaily.com)
- BMD is a genetic disease. (christianhospital.org)
- Because of the number of diseases in this slide, I've chosen to focus on those in boxes for the most part, and I've chosen to focus on them because I think they illustrate the key genetic principles underlying this class of mutation. (hstalks.com)
- Expanding the Clinico-Genetic Spectrum of Myofibrillar Myopathy: Experience From a Chinese Neuromuscular Center. (cdc.gov)
- The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease. (cdc.gov)
Spinal5
- These disorders include motor neuron diseases such as amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA), which may involve motor neurons in the brain, spinal cord, and periphery, ultimately weakening the muscle. (medscape.com)
- citation needed] List of neuromuscular disorders Motor neuron diseases Neuromuscular medicine Lower motor neurons originate in the anterior horn of the spinal cord, a part of the central nervous system. (wikipedia.org)
- Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V. (mda.org)
- to verify the body composition and chest expansion of type II and III spinal muscular atrophy patients. (bvsalud.org)
- At that time, the differentiation between the spinal muscular atrophies and weakness associated with central nervous system disorders and primary muscle disease had not been established. (medscape.com)
Nerves and muscles1
- Neuromuscular diseases affect the communication between the brain and the nerves and muscles in the body. (adventhealth.com)
Weakness8
- These diseases typically start with muscle weakness and fatigue, but progress over time. (adventhealth.com)
- in others (eg, certain cases of Charcot-Marie-Tooth disease type 1A (CMT1A) and inherited brachial plexus neuropathy [IBPN]/hereditary neuralgic amyotrophy [HNA]), proximal weakness predominates. (medscape.com)
- Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive weakness and muscle atrophy related to the loss of upper and lower motor neurons (MNs) without a curative treatment. (frontiersin.org)
- However, depending upon the pathophysiology of the disease, bracing is sometimes contraindicated as imobility can result in worsening weakness. (medscape.com)
- Neuromuscular weakness is often more prevelant during sleep. (medscape.com)
- In one of the six cases, TGen researchers found a unique disease-causing variant, or mutation, in the CACNA1S gene for a child with severe muscle weakness in addition to ophthalmoplegia, or the inability to move his eyes. (sciencedaily.com)
- Between 1909 and 1954, many individual case reports of primary muscle disease with a limb-girdle distribution of weakness were published. (medscape.com)
- [ 9 ] Walton and Nattrass described the disease as a progressive muscle weakness with atrophy involving predominantly proximal muscles (eg, pelvis, shoulder). (medscape.com)
Muscles7
- Neuromuscular disease can also be diagnosed by various blood tests and using electrodiagnostic medicine tests including electromyography (measuring electrical activity in muscles) and nerve conduction studies. (wikipedia.org)
- This guidance is relevant to people with health conditions, including neuromuscular diseases, which affect the way that muscles and nerves work. (cochrane.org)
- Metabolic diseases of the muscles are metabolic myopathies that act as abnormalities of the muscles and have as the result skeletal muscle dysfunctions. (mdac.ca)
- Neuromuscular disorders are those types of disorders that affect the neurons involved in the voluntary movement of the muscles. (mdac.ca)
- People who suffer from any type of ataxia are not able to control their muscles, they encounter issues with stability and they even face problems when they have to walk. (mdac.ca)
- These sorts of diseases affect the muscles and eventually produce permanent degeneration of the muscle fibers. (mdac.ca)
- But there are certain diseases that can affect the signals from our brains to our muscles, making physical movement difficult or impossible. (adventhealth.com)
Neurodegenerative1
- Bexarotene (Bxt) is a retinoid-X receptor agonist used in the treatment of cutaneous lymphoma with a favorable safety profile whose effects have been recently investigated in other neurodegenerative diseases. (frontiersin.org)
NMDs4
- Most neuromuscular diseases (NMDs) are incurable. (medscape.com)
- NMDs are a group of diseases that affect any part of the nerve and muscle. (medscape.com)
- NMDs also include peripheral neuropathies such as Charcot-Marie-Tooth disease (CMT), which affect not only motor but also sensory nerves. (medscape.com)
- In this review, we considered the effects of activity-promoting interventions on physical activity and well-being in studies, as well as any adverse events experienced by participants living with inherited or acquired neuromuscular diseases (NMDs). (cochrane.org)
Chronic obstruc2
- Background: Passive training of specific locomotor muscle groups by means of neuromuscular electrical stimulation (NMES) might be better tolerated than whole body exercise in patients with severe chronic obstructive pulmonary disease (COPD). (bmj.com)
- Exercise intolerance is a hallmark of chronic obstructive pulmonary disease (COPD) and is commonly associated with reduced quality of life and increased utilisation of healthcare resources. (bmj.com)
Autoimmune5
- This autoimmune disease affects the neuromuscular system. (clevelandclinic.org)
- History of other autoimmune diseases, such as rheumatoid arthritis and lupus . (clevelandclinic.org)
- Autoimmune MG is the most common form of this neuromuscular disease. (clevelandclinic.org)
- MG is an autoimmune disease. (clevelandclinic.org)
- Autoimmune polyendocrine syndrome type II, also known as Schmidt syndrome, is a rare autoimmune disorder in which there is a steep drop in production of several essential hormones by the glands that secrete these hormones. (rarediseases.org)
Approach2
- Neuromuscular Diseases: A Practical Approach to Diagnosis and Management. (wikipedia.org)
- We therefore propose that passive stimulation of locomotor muscle groups by neuromuscular electrical stimulation (NMES) may provide an alternative approach for improving physical capacity in severely compromised patients with COPD who present with incapacitating dyspnoea. (bmj.com)
Mutation2
- A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. (mda.org)
- In all three cases, TGen researchers identified a pathogenic variant, or disease-causing mutation, in the COL6A3 gene, or likely pathogenic variants in the COL6A6 gene. (sciencedaily.com)
Autosomal2
- A Locus for an Axonal Form of Autosomal Recessive Charcot-Marie-Tooth Disease Maps to Chromosome 1q21.2-q21.3. (mda.org)
- Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): Phenotype-genotype correlations in 13 Moroccan families. (mda.org)
Patients9
- Increased prevalence of obstructive sleep apnoea in patients with Charcot-Marie-Tooth disease: A case control study. (mda.org)
- The UCSF Neuromuscular Clinic provides comprehensive treatment for patients with various neuromuscular diseases. (ucsfhealth.org)
- These diseases, called neuromuscular diseases, can make patients may feel like they have little control over their brain and body, and these feelings may be overwhelming. (adventhealth.com)
- Patients with Addison's disease have a deficiency in the production of glucocorticoid hormones which are manufactured by the adrenal gland. (rarediseases.org)
- Commonly, patients will have a restrictive pattern of lung disease. (medscape.com)
- This is a prime example of the type of "personalized medicine" TGen uses to zero in on diagnoses for patients, and to help their physicians find the best possible treatments. (sciencedaily.com)
- Syncoilin upregulation in muscle of patients with neuromuscular disease. (ox.ac.uk)
- Analysis of Active Bacterial Core surveillance from 10 U.S. jurisdictions identified eight instances of likely secondary transmission of non-type b Hi, all among patients with underlying medical conditions. (cdc.gov)
- Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) patients in India. (cdc.gov)
Typically2
- Although HPeV3 is typically associated with disease in young children, our results suggest that this outbreak of myalgia among adults was associated with HPeV3 infection. (cdc.gov)
- Typically, the neuromuscular physician will lead the team with other consultants based upon the patient's needs. (medscape.com)
Genes1
- Mutations of more than 500 genes have shown to be causes of neuromuscular diseases. (wikipedia.org)
Charcot-Marie-T6
- Charcot-Marie-Tooth disease and sleep apnoea syndrome: A family study. (mda.org)
- Epidemiologic Study of Charcot-Marie-Tooth Disease: A Systematic Review. (mda.org)
- Reilly, M. M. Axonal Charcot-Marie-Tooth disease: the fog is slowly lifting! (mda.org)
- Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. (mda.org)
- Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. (mda.org)
- BACKGROUND AND OBJECTIVES: Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy and often presents during childhood. (bvsalud.org)
Tumors1
- There are several types of mediastinal tumors. (mountsinai.org)
Congenital1
- Congenital neuromuscular and muscular dystrophy diseases associated with mutations in the LAMIN TYPE A (Lamin A/C or LMNA gene). (bvsalud.org)
Treatment5
- Appropriate treatment may be different in someone with a neuromuscular disease: Make sure that your sleep physician knows your diagnosis. (bellaonline.com)
- Our objective was to quantify health service utilisation including monitoring and treatment of respiratory complications for adults with neuromuscular disease (NMD), identifying practice variation and adherence to guideline recommendations at a population level. (ices.on.ca)
- Consequently, these people might not recognize that they have a disease at all, and they can even express disdain toward treatment. (mdaquest.org)
- Both Dr. Muntoni and Dr. Day expressed the significance of considering all cognitive and behavioral aspects when approaching treatment plans for neuromuscular disease. (mdaquest.org)
- This early increase in disease incidence highlights the importance of optimizing respiratory virus prevention and treatment measures, including prompt vaccination and antiviral treatment, as outlined below. (cdc.gov)
Physical activity7
- What interventions promote physical activity in people living with neuromuscular disease? (cochrane.org)
- We looked at the evidence on ways to increase physical activity in people with neuromuscular disease. (cochrane.org)
- Physical activity includes any type of everyday activity, such as work, travel, or exercise. (cochrane.org)
- Interventions involved supported exercise or other types of physical activity, advice about being more active, or talking therapies that included changing everyday activity behaviour. (cochrane.org)
- In terms of time spent physically active, we are uncertain whether any intervention promoted physical activity in people with neuromuscular disease. (cochrane.org)
- Research has since shown exercise and physical activity to be the exact opposite - of great benefit - for people with neuromuscular disease. (post-polio.org)
- Functional Ability and Physical Activity in Hereditary Neuromuscular Diseases. (cdc.gov)
Amyotrophic lateral s2
- Amyotrophic lateral sclerosis (ALS) is the most common disease affecting the motor neurons (MNs) with an annual incidence that ranges from 2 to 4 cases per 100,000 people. (frontiersin.org)
- Central sleep apnea happens most often in people with neuromuscular disease such as amyotrophic lateral sclerosis (ALS, or Lou Gehrig's disease), those who've had a stroke , or in people with heart failure or other forms of heart , kidney , or lung disease . (webmd.com)
Diagnosis1
- Getting a precise diagnosis is the first step to developing a personalized plan of care for neuromuscular diseases. (adventhealth.com)
Occurs2
People7
- However, many people with neuromuscular disease live with disability and face barriers to being more physically active. (cochrane.org)
- People with neuromuscular disease have a number of factors which may lead to increased rates of sleeping disorder. (bellaonline.com)
- In general, poor sleep is likely to worsen daytime functioning and increase disability in people with neuromuscular disease. (bellaonline.com)
- Choose from one of many volunteer opportunities and make a difference for people living with neuromuscular diseases. (mda.org)
- Neuromuscular diseases affect different people in different ways. (adventhealth.com)
- The actual number of people affected may be higher, as some people with mild cases may not know they have the disease. (clevelandclinic.org)
- However, historically, any type of exercise was once thought to be bad for people with neuromuscular diseases (such as muscular dystrophy, post-polio syndrome, cerebral palsy, etc. (post-polio.org)
Metabolic1
- Metabolic diseases of muscle - how can you tell if they affect you? (mdac.ca)
Hereditary1
- In the late 1960s, neurophysiologic testing allowed the classification of CMT into 2 groups, one with slow nerve conduction velocities and histologic features of a hypertrophic demyelinating neuropathy (hereditary motor and sensory neuropathy type 1 or CMT1) and another with relatively normal velocities and axonal and neuronal degeneration (hereditary motor and sensory neuropathy type 2 or CMT2). (medscape.com)
Centers3
- 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)
- The Centers for Disease Control and Prevention (CDC) is issuing this Health Alert Network (HAN) Health Advisory about early, elevated respiratory disease incidence caused by multiple viruses occurring especially among children and placing strain on healthcare systems. (cdc.gov)
Nervous system1
- In some types of neuromuscular disease, problems in the digestive tract, central nervous system, or autonomic nervous system may also contribute to sleep issues. (bellaonline.com)
Occur1
- What this slide shows is that these types of mutations can occur in various parts of the gene. (hstalks.com)
Respiratory disease3
- Knee extensor strength and endurance, whole body exercise capacity, and health related quality of life (Chronic Respiratory Disease Questionnaire, CRDQ) were assessed. (bmj.com)
- Influenza virus types A and B are responsible for only a small proportion of all respiratory disease, but they are unique in their ability to cause periodic widespread outbreaks of febrile respiratory illness among adults and children. (cdc.gov)
- In the past 2 years, respiratory disease activity has been dominated by SARS-CoV-2, and seasonal circulation of other respiratory viruses has been atypical or lower than pre-COVID-19 pandemic years. (cdc.gov)
Journal of rare diseases2
- Orphanet journal of rare diseases, 18, 1. (myobase.org)
- Orphanet journal of rare diseases, 13, 1. (myobase.org)
Thyroid1
- When first described, this disorder was thought to involve only adrenal insufficiency (Addison's disease) and thyroid insufficiency (Hashimoto's thyroiditis). (rarediseases.org)
Apnea2
- Are There Different Types of Sleep Apnea? (webmd.com)
- They'll review your family's history for sleep apnea or other sleep disorders, whether you have a risk factor for the condition, and if you have any complications of undiagnosed sleep apnea (like atrial fibrillation, hard-to-control high blood pressure , or type 2 diabetes ). (webmd.com)
Molecular1
- This is very well exemplified in the shift from descriptive classifications of neuromuscular diseases to molecular pathobiologic classifications of neuromuscular diseases. (medscape.com)