• These include Hunter syndrome and other lysosomal storage disorders, complement-mediated disorders, hemophilia A, metabolic disorders, rare cholestatic liver diseases and neuromuscular diseases, as well as glioblastoma multiforme. (biospace.com)
  • At Cedars-Sinai Medical Center Mitchel served as genetic counselor and coordinator for David Rimoin, MD, PhD's connective tissue disorders clinic and later established the cardiovascular genetics program at CSMC. (stanford.edu)
  • The company's products and services are focused on rare inherited disorders, kidney disease, orthopaedics, cancer, transplant and immune disease. (businesswire.com)
  • Alexandra works with range of medical conditions and genetic neuromuscular disorders such as MS and POMPE disease, cancer and stroke patients. (worldchampionship-massage.com)
  • Gaucher disease, one of the most common lysosomal storage disorders, is a rare inherited genetic metabolic disease caused by autosomal recessive mutations in the GBA gene located on chromosome 1 and affects both males and females equally. (canbridgepharma.com)
  • Glycogen storage disease (GSD) type I, also known as von Gierke disease, is a group of inherited autosomal recessive metabolic disorders of the glucose-6- phosphatase system which helps maintain glucose homeostasis. (medscape.com)
  • As a clinical geneticist, I work with children who have rare and orphan diseases, lysosomal storage disorders and metabolic disorders. (cincinnatichildrens.org)
  • WANDA seeks a world in which neuromuscular disorders are understood and eradicated and in which the people affected are well supported. (pacesworld.com)
  • The company targets genetic disorders with a large unmet medical need, with primary focus on neuromuscular disorders. (pacesworld.com)
  • A biopharmaceutical company focused on the development of therapies to treat patients with ultra-rare and life-threatening genetic metabolic disorders. (pacesworld.com)
  • Neuromuscular disorders : NMD, 33, 7. (myobase.org)
  • The Division supports a growing number of subspecialty fellowships to reflect the need for sub-specialization including fellowships in epilepsy, neurophysiology, neuromuscular disease, movement disorders, demyelinating disease, neurocritical care, headache, and palliative care. (universityofrochester.jobs)
  • This is a project funded through the South East Genomic Medicine Service Alliance with an aim to improve the diagnosis and health outcomes of patients with rare genetic neurological diseases particularly those with neuromuscular disorders such as FSHD. (fshd-registry.org.uk)
  • She runs twice weekly neuromuscular clinics including a transition service for young adults with neuromuscular disorders. (fshd-registry.org.uk)
  • Emma has a research background in genetic neuromuscular disorders and in clinical trials for rare diseases. (fshd-registry.org.uk)
  • 1 Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu i Sant Pau and Biomedical Research Institute Sant Pau, Departament de Medicina, Universitat Autònoma de Barcelona, Barcelona, Spain. (nih.gov)
  • Each of these disorders is caused by a different genetic defect that impairs the body's metabolism (the collection of chemical changes that occur within cells during normal functioning). (mda.org)
  • Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM). (globalgenes.org)
  • Also, in terms of underlying pathophysiology, hereditary motor neuropathies show striking overlap with several other neuromuscular and neurological disorders. (cmttreatmentreport.com)
  • In addition, we link hereditary motor neuropathies with various related disorders by addressing the main affected pathways of disease divided into five major processes: axonal transport, tRNA aminoacylation, RNA metabolism and DNA integrity, ion channels and transporters and endoplasmic reticulum. (cmttreatmentreport.com)
  • The CANbridge Next-Generation Innovation and Process Development Facility is developing novel, potentially curative, gene therapies for rare genetic diseases, including Pompe disease, Fabry disease, spinal muscular atrophy (SMA) and other neuromuscular conditions, and collaborates with world-leading researchers and biotech companies. (biospace.com)
  • Spinal muscular atrophy (SMA) is a progressive disease of the lower motor neurons associated with recessive loss of the SMN1 gene, and which leads to worsening weakness and disability, and is fatal in its most severe forms. (bvsalud.org)
  • At the forefront of these advances are the two recently approved treatments for spinal muscular atrophy: one, an antisense oligonucleotide that modifies splicing of the SMN2 gene, and, the other, a gene therapy vector that delivers the SMN1 gene to motor neurons, both of which are allowing patients to acquire developmental milestones previously unseen in this fatal disease. (bvsalud.org)
  • The question became familiar to me as a child while the young, curious faces stared at my power wheelchair.I wanted so badly for my peers to see me as a "normal" kid, yet there was nothing I could do to mask my differences.I have spinal muscular atrophy (SMA), a genetic condition caused by a mutation that affects muscle use. (mda.org)
  • Spinal Muscular Atrophy (SMA), a leading genetic cause of death in infants, is an autosomal recessive neuromuscular disease characterized by progressive muscle weakness and atrophy. (biomedcentral.com)
  • We retrospectively studied the oropharyngeal swallowing of 13 infants and children with Pompe disease using videofluoroscopy before initiation of ERT, allowing for baseline swallow function to be established in an untreated cohort. (duke.edu)
  • to investigate nursing team knowledge and practices regarding care for children with Pompe disease in intensive care. (bvsalud.org)
  • Its clinical presentation clearly differs from other forms of GSD, because it is caused by the deficiency of the lysosomal enzyme, alpha-1,4-glucosidase, leading to the pathologic accumulation of normally structured glycogen within the lysosomes of most tissues, differs Three forms of the disease exist: infantile-onset, late-onset juvenile and adult onset. (medscape.com)
  • After Sandra Young was diagnosed with late-onset Pompe disease at age 52, she thought her life would change and she would no longer be able to do the things she enjoyed. (mda.org)
  • With very rare diseases like late-onset Pompe disease (LOPD), diagnosis can sometimes take 20 years or more to confirm. (mdaquest.org)
  • Late-onset Pompe disease (LOPD) is a rare genetic disorder produced by mutations in the GAA gene and is characterized by progressive muscle weakness. (nih.gov)
  • Maple syrup urine disease (MSUD) is rare autosomal recessive metabolic disorder caused by the dysfunction of the mitochondrial branched-chain 2-ketoacid dehydrogenase (BCKD) enzyme complex leading to massive accumulation of branched-chain amino acids and 2-keto acids. (stanford.edu)
  • Doctors have found that cardiomyopathy disease occurs in children either as inherited from a single parent, who forms the carrier causes transmission of autosomal dominant with approximately 50 percent chances related to its recurrence or from both parents, where each of them contribute a defective gene results in autosomal recessive type of transmission with about 25 percent recurrence chances. (epainassist.com)
  • These problems caused from genetic mutations because of X-linked, autosomal dominant or X-linked recessive type of inheritance. (epainassist.com)
  • Maroteaux-Lamy Syndrome, also known as mucopolysaccharidosis type VI (MPS VI), is an autosomal recessive genetic disorder caused by deficient lysosomal enzyme activity. (creative-biolabs.com)
  • AskBio's development portfolio includes investigational pre-clinical and clinical-stage candidates for the treatment of neuromuscular, central nervous system, cardiovascular and metabolic diseases. (askbio.com)
  • The company's project portfolio includes drug candidates developed for AAV-based gene therapeutic treatment of neuromuscular diseases and diseases related to the central nervous system as well as cardiovascular and metabolic diseases. (combigene.com)
  • Molecule screening on human motor neurons produced from pluripotent stem cells helped identify the therapeutic potential of lithium in this genetic form of autism. (afm-telethon.fr)
  • Extensive collaborations with the Del Monte Neuroscience Institute , the University of Rochester Intellectual Developmental Disease Research Center , the Center for Health and Technology , and the Center for Translational Neuromedicine support clinical trial readiness activities to be at the cutting edge of therapeutic development, including first-in-disease trials. (universityofrochester.jobs)
  • 4DMT seeks to unlock the full potential of genetic medicines using its proprietary invention platform, Therapeutic Vector Evolution, which combines the power of the Nobel Prize-winning technology, directed evolution, with approximately one billion synthetic AAV capsid-derived sequences to invent customized and evolved vectors. (meetingonthemesa.com)
  • Cardiovascular Involvement in mtDNA Disease: Diagnosis, Management, and Therapeutic Options. (institut-myologie.org)
  • For CD, in addition to providing in vivo and in vitro models for studying the disease, Creative Biolabs also offers the measurement of NAA content changes, performs tissue sectioning and imaging analysis on organs of interest, therapeutic effects & pharmacokinetic assay of specific drugs, and other related services. (creative-biolabs.com)
  • Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. (wikipedia.org)
  • RP-A501 is an AAV-based gene therapy aimed to restore the LAMP-2 gene which is defective in male patients with Danon Disease and how to cure it. (wikipedia.org)
  • as published in Al-Bayan newspaper on 20 February 2016 making this family the largest one with patients and carriers of Danon disease. (wikipedia.org)
  • Microscopically, muscles from Danon disease patients appear similar to muscles from Pompe disease patients. (wikipedia.org)
  • Dr. Colella is committed to researching innovative ways to combat genetic diseases and making a positive impact on the lives of patients. (stanford.edu)
  • Genzyme is also continuing its 160 L production in the U.S. for patients with infantile-onset Pompe disease. (businesswire.com)
  • This investment ensures continued supply to our patients in the Pompe community for the long term. (businesswire.com)
  • approximately 1,400 Pompe patients are currently treated with either Myozyme or Lumizyme, which are the only treatments approved for the disease. (businesswire.com)
  • In the US, Lumizyme is indicated for patients 8 years and older with late (non-infantile) onset Pompe disease (GAA deficiency) who do not have evidence of cardiac hypertrophy. (businesswire.com)
  • In the US, Myozyme (alglucosidase alfa) is indicated for use in patients with Pompe disease (GAA deficiency). (businesswire.com)
  • Myozyme has been shown to improve ventilator-free survival in patients with infantile-onset Pompe disease as compared to an untreated historical control, whereas use of Myozyme in patients with other forms of Pompe disease has not been adequately studied to assure safety and efficacy. (businesswire.com)
  • In late stages of the disease, patients may progress to heart failure with ventricular dilatation. (medscape.com)
  • BEIJING and BURLINGTON, Mass. - 16 October, 2023- CANbridge Pharmaceuticals Inc. (1228.HK), a global biopharmaceutical company, with a foundation in China, committed to the research, development and commercialization of transformative therapies to treat rare disease and rare oncology, announced that the core part of the ongoing CAN103 Phase 2 trial, in treatment-naïve patients aged 12 or above with Gaucher disease (GD) Types I and III, has reached full enrollment. (canbridgepharma.com)
  • CAN103 is a recombinant human glucocerebrosidase ERT that is being developed to treat GD Types I and III, which are the chronic non-neuronopathic and neuronopathic forms of the disease that constitute the majority of patients. (canbridgepharma.com)
  • There were 3,000 patients with Gaucher disease in China in 2020, according to Frost & Sullivan. (canbridgepharma.com)
  • With Bayer's worldwide reach and translational expertise, especially in pathway diseases, our combined cultures of scientific advancement and commitment to patients, along with the retention of AskBio's independent structure, position us to provide accelerated development of gene therapies to treat more patients who can benefit from them," said Sheila Mikhail, CEO and Co-Founder of AskBio. (askbio.com)
  • I tell my patients, 'You cannot exercise your way into or out of this disease. (everydayhealth.com)
  • GSD IIIa is the most common subtype, affecting about 85% of patients with this disease. (medscape.com)
  • GSD IIIb is less severe and less common, affecting 15% of patients with the disease. (medscape.com)
  • A global biopharmaceutical company that discovers, develops and delivers life-changing therapies for patients living with severe, life-threatening and often ultra-rare diseases. (pacesworld.com)
  • The Division is the largest Child Neurology program in NY State and provides national and international care for patients with neurological diseases, including rare diseases, who travel to Rochester to access expert care. (universityofrochester.jobs)
  • The Italian Medicines Agency (AIFA) demands precise information on benefit/risk profile of home-based enzyme replacement therapy (ERT) for the treatment of patients with Pompe disease and Mucopolysaccharidosis type I (MPS I). This passage is necessary to obtain the authorization for ERT home therapy, even after the coronavirus disease-19 (COVID-19) pandemic period. (biomedcentral.com)
  • This research intends to evaluate the safety, treatment satisfaction, and compliance of MPS I patients treated with laronidase (Aldurazyme®) and Pompe Disease patients treated with alglucosidase alfa (Myozyme®) in a homecare setting. (biomedcentral.com)
  • We report herein an early interim analysis of the HomERT (Home infusions of ERT) study, a multicenter, non-interventional, double-cohort study that retrospectively analyzed 38 patients from 14 sites in Italy: cohort A (Pompe disease − 32 patients) and cohort B (MPS I − 6 patients). (biomedcentral.com)
  • The advent of the Coronavirus Disease-19 (COVID-19) pandemic imposed an unprecedented challenge on LSD patients for receiving ERT at hospitals and maintaining adherence. (biomedcentral.com)
  • She participates in clinical trials and has become an advocate for patients, speaking at meetings with elected officials and traveling around the country to engage medical professionals as well as individuals living with Pompe disease. (sparktx.com)
  • For Pompe disease patients who have been diagnosed, they've been through it. (sparktx.com)
  • She works with Trustees, clinicians, researchers and - most importantly - MDUK's supporters to deliver research that is meaningful to patients living with neuromuscular conditions. (fshd-registry.org.uk)
  • Abraxane is used for the treatment of patients with metastatic breast cancer after failure of combination chemotherapy for metastatic disease or relapse within 6 months of adjuvant chemotherapy. (medpdffinder.com)
  • Alimta is used for the treatment of patients with malignant pleural mesothelioma whose disease has spread and is unable to be removed with surgery, or who are otherwise not candidates for curative surgery. (medpdffinder.com)
  • It is also used for the treatment of patients with glioblastoma multiforme (GBM) after relapse or disease progression, following prior therapy. (medpdffinder.com)
  • Catena is used for the symptomatic management of patients with Friedreich's Ataxia, a rare neuromuscular disease that results in the degeneration of nerve and muscle tissue. (medpdffinder.com)
  • Cerezyme is used for the treatment of long-term enzyme replacement therapy for adult and pediatric patients with a confirmed diagnosis of Type 1 Gaucher disease. (medpdffinder.com)
  • Though there is not yet any treatment for the disease, our clinic excels at helping patients and their families manage the disease using a combination of counseling, physical therapy, and braces and splints. (stanfordchildrens.org)
  • CombiGene's vision is to provide patients affected by severe life-altering diseases with the prospect of a better life through novel gene therapies. (combigene.com)
  • « Mitochondriopathies » register in the observational study « Prospective follow-up of a cohort of adult patients with mitochondrial diseases », Principal investigator Prof P. Laforet. (institut-myologie.org)
  • Pompe disease was first described some by Dr Johannes Pompe in 1932, some 83 years ago, but it is the last 20 years that has seen the most dramatic research leading to benefits for patients and families living with the condition. (worldpompe.org)
  • Hannerieke van den Hout described natural history of Pompe disease and her colleague Dr Chris van der Meijden spoke of the Erasmus/IPA Pompe Survey as one of largest rare disease databases in the world, having 443 patients enrolled. (worldpompe.org)
  • Dr Priya Kishnani discussed the need for a multi-disciplinary team approach to managing the care of Pompe patients and discussed the many excellent guidelines for Pompe available worldwide. (worldpompe.org)
  • Sevoflurane should not be used in patients with known or suspected genetic susceptibility to malignant hyperthermia. (medicines.org.uk)
  • Pompe disease is a rare genetic progressive neuromuscular disorder. (duke.edu)
  • Danon disease (or glycogen storage disease Type IIb) is a metabolic disorder. (wikipedia.org)
  • Danon disease is an X-linked lysosomal and glycogen storage disorder associated with hypertrophic cardiomyopathy, skeletal muscle weakness, and intellectual disability. (wikipedia.org)
  • For the purposes of this article, HCM is a primary cardiac disorder that results from known or suspected genetic defects in sarcomeric proteins of the cardiac myocyte. (medscape.com)
  • Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare genetic disorder characterized by deficient synthesis of dopamine and serotonin. (bvsalud.org)
  • Each disorder is due to an individual enzyme deficiency [ 7 ], with Pompe disease and mucopolysaccharidoses (MPS) caused by deficiency of α-glucosidase and α-L-iduronidase, respectively. (biomedcentral.com)
  • Because Pompe disease, a lysosomal storage disorder and neuromuscular disease caused by mutations in the acid alpha-glucosidase ( GAA ) gene, is rare and symptoms are not always obvious, it can often be misdiagnosed. (sparktx.com)
  • One treatment strategy, called enzyme replacement therapy, already has led to the development of a successful commercial treatment for the metabolic disorder Pompe disease . (mda.org)
  • Making a diagnosis for a genetic or rare disease can often be challenging. (wikipedia.org)
  • While early diagnosis of SMA is critical to modifying disease progression and improving outcomes, serious diagnostic delays persist. (biomedcentral.com)
  • 52.7% correctly indicated the need for genetic testing to make a definitive diagnosis of SMA, 74.0% meet or exceed developmental screening recommendations, and 52.0% said they would immediately refer to a specialist. (biomedcentral.com)
  • If CK is raised it is highly suggestive of McArdle disease and a referral can be made to an appropriate specialist for diagnosis. (agsd.org.uk)
  • Whichever route you take to diagnosis, once that is achieved you should be referred to the national McArdle Disease Clinic. (agsd.org.uk)
  • After nearly a decade of progressive symptoms, a subsequent genetic test revealed that the diagnosis of inflammatory myopathy was incorrect, and, in fact, Monique's experience was due to Pompe disease. (sparktx.com)
  • The types of data gathered will include - clinical and genetic diagnosis details, when symptoms started, date of diagnosis, current best motor function, other related symptoms such as heart function and questions about your quality of life. (mdi.ie)
  • In this article, we review the epidemiology, genetic diagnosis, and clinicogenetic characteristics of CMT in Japan. (cmttreatmentreport.com)
  • Pompe disease is a progressive, debilitating and often fatal neuromuscular disease caused by a genetic deficiency or dysfunction of the lysosomal enzyme acid alpha-glucosidase (GAA). (businesswire.com)
  • Gaucher disease is caused by a deficiency of glucocerebrosidase (acid-glucosidase), an enzyme that helps break down a cellular membrane sphingolipid called glucocerebroside (glucosylceramide) inside lysosomes. (canbridgepharma.com)
  • GSD type II, also known as alpha glucosidase deficiency (GAA, acid maltase deficiency) or Pompe disease, is a prototypic lysosomal disease. (medscape.com)
  • GSD type IV, also known as amylopectinosis, Glycogen Branching enzyme deficiency (GBE) or Andersen disease, is a rare disease that leads to early death. (medscape.com)
  • Aldurazyme is used as an enzyme replacement therapy for the treatment of Hurler syndrome (also known as mucopolysaccharidosis MPS I), an extremely rare genetic enzyme deficiency disease. (medpdffinder.com)
  • Muscle phosphorylase deficiency adversely affecting the glycolytic pathway in skeletal musculature causes GSD type V. Like other forms of GSD, McArdle disease is heterogeneous. (medscape.com)
  • Hepatic phosphorylase deficiency or deficiency of other enzymes that form a cascade necessary for liver phosphorylase activation cause the disease. (medscape.com)
  • Genzyme believes that its Pompe disease treatments represent a commercial opportunity that is comparable to that of Cerezyme for Gaucher disease. (businesswire.com)
  • Over the past six years, three treatments have emerged, two drugs that modify exon splicing and one gene therapy, which have transformed the management of this disease. (bvsalud.org)
  • With these and other newer techniques for targeted correction of genetic defects, such as CRISPR/Cas9, there is now hope that treatments for many more genetic diseases of the nervous system will follow in the near future. (bvsalud.org)
  • A lot of information is available on neuromuscular diseases, treatments, and research, if you know where to look for it. (mdaquest.org)
  • A global biopharmaceutical company that provides treatments in the areas of Neurosciences, Rare Diseases, Gastrointestinal, Internal Medicine and Regenerative Medicine. (pacesworld.com)
  • Is a biotechnology company committed to the development and commercialization of innovative new treatments for people with serious, rare diseases through the application of gene therapy technology. (pacesworld.com)
  • Until recently, there were no disease-modifying treatments for SMA. (biomedcentral.com)
  • These results open the door to potential new treatments targeting BNIP3 to reduce its deleterious effects on muscle fiber atrophy in Pompe disease. (nih.gov)
  • AskBio's projects include the development of treatments for Pompe disease, Parkinson's disease and congestive heart failure. (combigene.com)
  • MDA-supported researchers are pursuing a number of promising leads in their quest to understand the causes and discover treatments for metabolic diseases of muscle. (mda.org)
  • The Neuromuscular Disease Foundation's (NDF) mission is to enhance the quality of the lives of people living with GNE Myopathy (also known as HIBM) through advocacy, education, outreach, and funding clinical research focused on treatments and a cure. (globalgenes.org)
  • 4DMT is currently advancing five product candidates in clinical development: 4D-150 for wet AMD and DME, 4D-710 for cystic fibrosis lung disease, 4D-310 for Fabry disease cardiomyopathy, 4D-125 for XLRP, and 4D-110 for choroideremia. (meetingonthemesa.com)
  • The square in the inpatient psychiatric unit by completing a schedule of administration rotavirus vaccine should be developed for fabry disease, several mucopolysaccharidoses, and pompe disease. (albionfoundation.org)
  • Pompe initially described the disease in 1932. (medscape.com)
  • Pompe Disease (PD) was discovered in 1932 by pathologist Joannes Cassianus Pompe, during the autopsy of a seven-month-old child who died from idiopathic myocardial hypertrophy. (bvsalud.org)
  • For more than 25 years, recombinant human glucocerebrosidase enzyme replacement therapy (ERT) has been the standard of care for Gaucher disease, with clinical trials and real-world data demonstrating significant improvement in the major non-neurological signs and symptoms of disease and quality of life. (canbridgepharma.com)
  • MDA's Resource Center can help you find information on genetic testing options, clinical trials, and neuromuscular disease specialists. (mdaquest.org)
  • The Division and its URMC Neuroscience investigators are leaders in experimental therapeutics, and are uniquely positioned to enhance rare disease research, gene therapy clinical trials, and to train early stage investigators to be leaders in the field. (universityofrochester.jobs)
  • For a list of clinical trials in this disease area, please click here . (globalgenes.org)
  • Doctors and other medical research professionals have identified that specific genetic mutations are major reasons behind pediatric cardiomyopathy problem. (epainassist.com)
  • Dr Deeksha Bali discussed various diagnostic techniques, their benefits and issues, after which Stephanie Austin discussed the importance of genetic counselling and gave a case study of a family with very complex mutations of the GAA gene. (worldpompe.org)
  • Rare diseases may be caused by bacterial or viral infections, allergies, gene mutations, chromosomal abnormalities, etc. , and affect almost all body organs, making the research on the pathogenesis and inhibition of such diseases extraordinarily complicated. (creative-biolabs.com)
  • In this review, we provide a current overview of the genetic spectrum of hereditary motor neuropathies highlighting recent reports of novel genes and mutations or recent discoveries in the underlying disease mechanisms. (cmttreatmentreport.com)
  • The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease. (cdc.gov)
  • Neuromuscular problems related to cardiomyopathy may cause either of dominant or recessive type of genetic problem. (epainassist.com)
  • Treatment with enzyme replacement therapy (ERT) using alglucosidase alfa (Myozyme(®)) has extended the lifespan of individuals with this disease. (duke.edu)
  • Alglucosidase alfa, known as Lumizyme in the US and as Myozyme in the rest of the world, targets the underlying cause of Pompe disease by replacing the enzyme that is deficient. (businesswire.com)
  • Extensive and real-world clinical studies have confirmed the efficacy and safety of enzyme replacement therapy (ERT) like alglucosidase alfa (Myozyme®) and laronidase (Aldurazyme®) to respectively treat Pompe disease and MPS. (biomedcentral.com)
  • A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort. (cdc.gov)
  • In 2023, AFM-Telethon is supporting 39 trials underway or in preparation in 30 rare diseases . (afm-telethon.fr)
  • The most severe form, infantile Pompe disease, has historically resulted in early mortality, most commonly due to cardiorespiratory failure. (duke.edu)
  • Males In males the symptoms of Danon disease are more severe. (wikipedia.org)
  • Features of Danon disease in males are:[citation needed] An early age of onset of muscle weakness and heart disease (onset in childhood or adolescence) Some learning problems or intellectual disability can be present Muscle weakness can be severe and can affect endurance and the ability to walk Heart disease (cardiomyopathy) can be severe and can lead to a need for medications. (wikipedia.org)
  • CombiGene's business concept is to develop effective gene therapies for severe life-altering diseases where adequate treatment is currently lacking. (combigene.com)
  • Metabolic muscle diseases that have their onset in infancy tend to be the most severe, and some forms can be fatal. (mda.org)
  • Neuromuscular problems with cardiomyopathy consist of all areas affecting skeletal muscles and nerves of humans. (epainassist.com)
  • GSD type V, also known as McArdle disease, affects the skeletal muscles. (medscape.com)
  • Emma is a Consultant Neurologist and Reader of Neurology at the Atkinson Morley Neuromuscular Centre, St George's Hospital London. (fshd-registry.org.uk)
  • Visit the Centre for Neuromuscular Disease web site section on GSDs. (agsd.org.uk)
  • He was particularly involved in genetic and clinical studies of Facioscapulohumeral Dystrophy following inspiration by Dr Berch Griggs, at the University of Rochester Medical Centre, New York, USA, where he spent one year as a Visiting Professor, supported by the Medical Research Council Travelling Fellowship Programme. (fshd-registry.org.uk)
  • This review highlights these advances and emerging targeted therapies for Duchenne muscular dystrophy and centronuclear myopathy, while also covering enzyme replacement therapy and small molecule-based targeted therapies for conditions such as Pompe's disease and congenital myasthenic syndromes. (bvsalud.org)
  • A congenital myopathy is a muscle disease that is present at birth. (nicklauschildrens.org)
  • In Europe, Myozyme is indicated for infants, children and adults with Pompe disease. (businesswire.com)
  • CAN103 is an ERT under development by CANbridge, as part of its rare disease collaboration with WuXi Biologics (2269.HK), for the long-term treatment of adults and children with GD Types I and III. (canbridgepharma.com)
  • Doctors need more education on this disease, especially on how it presents in adults. (sparktx.com)
  • There are over 110,000 adults and children living with over 60 different types of neuromuscular conditions the UK. (fshd-registry.org.uk)
  • Our target is to raise significant funds for the Steve Waugh Foundationto champion the stories of and provide life changing support to children and young adults affected by a rare diseases. (stevewaughfoundation.com.au)
  • Initial signs of the disease usually develop in adolescents or adults. (medscape.com)
  • Inclisiran is indicated as an adjunct to diet and maximally tolerated statin therapy for adults with heterozygous familial hypercholesterolemia (HeFH) or clinical atherosclerotic cardiovascular disease (ASCVD) who require additional LDL-C lowering. (medscape.com)
  • Finerenone is indicated to reduce risk of sustained eGFR decline, end-stage kidney disease, cardiovascular death, nonfatal myocardial infarction, and hospitalization for heart failure in adults with chronic kidney disease (CKD) associated with type 2 diabetes mellitus. (medscape.com)
  • Symptoms are usually gradually progressive Some individuals may have visual disturbances, and/or retinal pigment abnormalities Danon Disease is rare and unfamiliar to most physicians. (wikipedia.org)
  • Common symptoms of Danon disease in females are:[citation needed] A later age of onset of symptoms. (wikipedia.org)
  • The milder and more subtle symptoms in females can make it more difficult to diagnose females with Danon Disease Although the genetic cause of Danon disease is known, the mechanism of disease is not well understood. (wikipedia.org)
  • Danon disease has overlapping symptoms with another rare genetic condition called 'Pompe' disease. (wikipedia.org)
  • The level of disability caused by muscular dystrophy varies widely depending on which of the many types of the disease a person has and when the symptoms of the disease first appear. (everydayhealth.com)
  • This constant, on-the-go lifestyle led Monique to dismiss symptoms of Pompe disease for years as what she thought was normal fatigue. (sparktx.com)
  • She has found that misdiagnoses are common for Pompe disease due to the fact that doctors simply do not know much about the disease and symptoms can mimic more common conditions and may present differently in each patient. (sparktx.com)
  • On the other side, when the disease reaches to its critical state, child exhibits stroke type symptoms, suffer from low blood sugar, seizures and fail to use their body's energy properly. (epainassist.com)
  • What are the symptoms of metabolic diseases of muscle? (mda.org)
  • For more, see Types of Metabolic Diseases of Muscle and Signs and Symptoms . (mda.org)
  • There have been small studies that show that in different cases, nonstrenuous exercise may improve things like quality of life, but there's never been anything to show that it slows disease progression," says Elman. (everydayhealth.com)
  • Knee extension strength seems to be the most relevant marker of disease progression in sporadic inclusion body myositis when measured with suitable dynamometry. (researcher.life)
  • What is the progression of metabolic diseases of muscle? (mda.org)
  • Charcot-Marie-Tooth disease (CMT) is one of the most commonly inherited peripheral neuropathies causing the slow progression of sensory and distal muscle defects. (cmttreatmentreport.com)
  • No relationship in the relative involvement of swallowing, gross motor function, and cardiac disease appeared to be present. (duke.edu)
  • The disease presents with variable cardiac muscle, skeletal muscle and liver involvement and has different subtypes. (medscape.com)
  • In 1989, Jarcho et al reported the genetic basis for HCM and the existence of a disease gene located on the long arm of chromosome 14, subsequently found to encode for the beta cardiac myosin heavy chain. (medscape.com)
  • An inflammatory myopathy is a disease that is chronic and involves inflammation, muscle weakness and sometimes muscle pain. (nicklauschildrens.org)
  • Expanding the Clinico-Genetic Spectrum of Myofibrillar Myopathy: Experience From a Chinese Neuromuscular Center. (cdc.gov)
  • As Postdoc she developed innovative in vivo AAV gene therapy approaches based on liver gene transfer or multi-tissue gene expression to target the multi-organ manifestations of Pompe disease, a LSD that presents with neuromuscular impairment. (stanford.edu)
  • A federation of Pompe disease patient's groups world-wide. (pacesworld.com)
  • All inspections were persuited in behalf ofmed alongside human beings who were masked to the patient's disease status. (ika.ie)
  • CANbridge has a differentiated drug portfolio, with three approved drugs and a pipeline of 10 assets, targeting prevalent rare disease and rare oncology indications that have unmet needs and significant market potential. (biospace.com)
  • Genzyme's commitment to innovation continues today with a substantial development program focused on these fields, as well as cardiovascular disease, neurodegenerative diseases, and other areas of unmet medical need. (businesswire.com)
  • Bio Dr. Pasqualina Colella is a scientist with extensive expertise in cell therapy and gene therapy approaches for the treatment of inherited diseases. (stanford.edu)
  • With this acquisition, Bayer significantly advances the establishment of a cell and gene therapy platform that can be at the forefront of breakthrough science contributing to, preventing, or even curing diseases caused by gene defects and further driving company growth in the future. (askbio.com)
  • Our innovation in capsid re-engineering and promoter design, coupled with our scaled manufacturing processes, gives us the tools to provide gene therapy solutions to more people suffering from a wider spectrum of diseases not being adequately treated today," said R. Jude Samulski, PhD, Chief Scientific Officer and Co-Founder of AskBio. (askbio.com)
  • Gene therapy offers new treatment options for many currently untreatable diseases, particularly genetic diseases caused by a single genetic defect. (askbio.com)
  • Adverum Biotechnologies (NASDAQ: ADVM) is a clinical-stage company that aims to establish gene therapy as a new standard of care for highly prevalent ocular diseases with the aspiration of developing functional cures to restore vision and prevent blindness. (meetingonthemesa.com)
  • Gene therapy is often hailed as the ultimate "cure" for genetic conditions and so, after a layman's introduction to the subject by Arnold Reuser, four research themes were explored in turn. (worldpompe.org)
  • GenSight Biologics, a french biopharma company, just submitted to EMAMarketing Autorisation Application for LUMEVOQ® Gene Therapy to Treat Vision Loss due to Leber Hereditary Optic Neuropathy (LHON), a rare, mitochondrial genetic disease, caused by mutation in the ND4 mitochondrial gene. (genethon.com)
  • It is the first gene therapy for mitochondrial disease. (genethon.com)
  • When a medical emergency occurs - and the patient is a person with a neuromuscular disease - it's not just getting to the emergency department (ED) quickly that's critical. (mda.org)
  • IGA is an alliance of continental and regional alliances of parent and patient organisations with an involvement in the opportunities and implications of genetics and biotechnology regarding its potential for prevention and treatment of serious diseases. (pacesworld.com)
  • Understanding the disease and being able to help others with this knowledge now drives Monique in her patient advocacy work. (sparktx.com)
  • From her first experience in a clinical trial, to becoming the first patient in the United States to receive a new, commercialized treatment for Pompe disease in 2010, Monique has taken advantage of her experience to help others. (sparktx.com)
  • The patient strength was correlated with the disease duration only for knee extension, which was also the only muscle function to change significantly over 9months. (researcher.life)
  • Drug candidates for common diseases will be co-developed and commercialized through strategic partnerships, while the company may manage this process on its own for drugs targeting niched patient populations. (combigene.com)
  • And collaboration between clinicians, researchers and patient groups was very much a theme of this year's International Pompe Patient and Scientific Conference in San Antonio, Texas. (worldpompe.org)
  • An excellent Patient Perspective was provided by Krystal Hayes who described her adaptation to many aspects family life with a child affected by Pompe. (worldpompe.org)
  • The Association for Glycogen Storage Disease (AGSD) is a patient advocacy organization dedicated to protecting and promoting the best interest of all persons affected by the glycogen storage disease. (globalgenes.org)
  • AGSD is committed to the identification, treatment, and cure of glycogen storage disease through programs of education, advocacy, research, and patient services. (globalgenes.org)
  • Create a patient registry to establish very precise statistics of rare diseases in Côte d'Ivoire. (globalgenes.org)
  • If there's a problem with how the mitochondria function, this can be a categorized as a mitochondrial disease. (nicklauschildrens.org)
  • Gaucher disease is a clinical spectrum that comprises perinatal-lethal, Type I (chronic non-neuronopathic), Type II (acute neuronopathic), and Type III (chronic neuronopathic) forms, with Types I and III surviving into adulthood. (canbridgepharma.com)
  • Muscular dystrophy is a chronic disease that causes gradual weakness and loss of muscle over time. (nicklauschildrens.org)
  • MG in a rare chronic autoimmune disease in children of all ages, it is characterized by muscle weakness of varying degree in many different areas of the body, it commonly affects the eyes, mouth, throat, arms and legs. (nicklauschildrens.org)
  • The purpose is to inform the public about new developments and current state of affairs in care and society in general for people with a chronic disease. (pacesworld.com)
  • Over the next decade her disease progressed to the point that she needed handrail assistance to climb a flight of stairs and watched closed captioned TV as her chronic extreme pain was worsened with sound. (sparktx.com)
  • However, until more data on finerenone is gathered, RASIs and SGLT-2 inhibitors will be the preferred agents for slowing chronic kidney disease in type 2 diabetes mellitus. (medscape.com)
  • Canavan disease (CD) is a rare neurodegenerative disease with no cure, characterized by progressive damage to nerve cells and loss of white matter in the brain caused by markedly elevated N-acetylaspartic acid (NNA) levels, and ultimately leading to intellectual disability, macrocephaly, spasticity even premature death. (creative-biolabs.com)
  • Bio Licensed and certified genetic counselor with a specialization in inherited cardiovascular disease. (stanford.edu)
  • Scholars@Duke publication: Oropharyngeal dysphagia in infants and children with infantile Pompe disease. (duke.edu)
  • Glycogen storage disease (GSD) type I is also known as von Gierke disease or hepatorenal glycogenosis. (medscape.com)
  • Myopathies are diseases that impact the muscles. (nicklauschildrens.org)
  • When the curvature is caused by problems related to the spinal cord, the brain or the muscles of the body, it can be classified as neuromuscular scoliosis. (nicklauschildrens.org)
  • Botox is a neuromuscular paralytic agent and is used to treat conditions that are caused by certain muscles going into spasm. (medpdffinder.com)
  • Muscular dystrophy is a genetic disease that causes muscles to become weak and break down over time. (stanfordchildrens.org)
  • Muscles require a lot of energy to work properly, and metabolic diseases of muscle interfere with chemical reactions involved in drawing energy from food. (mda.org)
  • The category even includes mitochondrial abnormalities, like MERRF, MELAS, diseases in respiratory system or chain, defects in fatty acid oxidation, mitochondrial myopathies and Barth or Pompe syndromes. (epainassist.com)
  • Clinical instructor for the Stanford University MS in Human Genetics and Genetic Counseling Program. (stanford.edu)
  • Neuromuscular disease genetics in underrepresented populations: increasing data diversity. (cdc.gov)
  • In Lambert-Eaton myasthenic syndrome (LEMS), the immune system attacks the connection between nerve and muscle - the neuromuscular junction - and interferes with the ability of nerve cells to send signals to muscle cells.Specifically, the attack targets the calcium channels on nerve endings that are required to trigger the release of acetylcholine, a chemical messenger that triggers muscle contraction. (mda.org)
  • Testing Resources The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. (wikipedia.org)
  • A Pompe Registry report was given by Dr Virginia Kimonis. (worldpompe.org)
  • An initiative in achieving this is the development of a registry of people in Ireland with a neuromuscular condition. (mdi.ie)
  • 5 kb) genes in the retina for treating Stargardt disease and Usher Syndrome type I B, both of which cause untreatable forms of blindness. (stanford.edu)
  • In the past decade, the number of genes linked to neuromuscular diseases of childhood has expanded dramatically, and this genetic information is forming the basis for gene-specific and even mutation-specific therapies. (bvsalud.org)
  • Research thus continues in focusing on the identification of specific genes responsible for causing cardiomyopathy and better understanding about various genetic abnormalities contributing to the problem. (epainassist.com)
  • Although currently as many as 26 causal genes are known, there is considerable missing heritability compared to other inherited neuropathies such as Charcot-Marie-Tooth disease. (cmttreatmentreport.com)
  • Leveraging the capabilities of its proprietary, intravitreal (IVT) platform, Adverum is developing durable, single-administration therapies, designed to be delivered in physicians' offices, to eliminate the need for frequent ocular injections to treat these diseases. (meetingonthemesa.com)
  • Surgery can also help treat scoliosis or other malformations that occur as a result of the disease. (stanfordchildrens.org)