• mutations
  • 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)
  • Flightless fruit flies (Order Diptera) encompasses a variety of different species of fly, such as Drosophila melanogaster, Bactrocera cucurbitae, Bactrocera dorsalis, and Drosophila hydei, with genetic mutations that cause them to be flightless. (wikipedia.org)
  • These genetic mutations may have different results such as the development of muscles that cannot support flight or even result in the lack of wings entirely. (wikipedia.org)
  • patients
  • The ultimate goal of the network, called TREAT-NMD ( www.treat-nmd.eu ) is to accelerate the development of curative treatments for patients with neuromuscular diseases. (ncl.ac.uk)
  • SMA is a grievous disease with a huge impact on the daily life of patients and their families, who are currently left only with supportive care. (roche.com)
  • Care is fragmented, genetic confirmation may not be prioritized by the medical community or covered by medical insurance and patients are scattered globally with potential challenges aggregating data across centers. (clinicaltrials.gov)
  • Myotonic dystrophy has an identifiable genetic cause, the program fits with our mission to bring innovative therapies to patients with serious neurologic diseases, and Isis' antisense compound has the potential to make a real difference. (drugs.com)
  • Biogen Idec is an ideal partner for these programs with its expertise in neurodegenerative disease and global reach to help bring these therapies successfully to patients who have no treatment options. (drugs.com)
  • Olesoxime is a mitochondrial targeted compound, which is a member of a new class of therapeutic agents aimed at bringing significant therapeutic benefit to patients suffering from devastating neurological diseases. (wikipedia.org)
  • as published in Al-Bayan newspaper in 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)
  • defect
  • It is caused by a genetic defect in the dystrophia myotonica-protein kinase (DMPK) gene in which a sequence of three nucleotides repeats extensively, creating an abnormally long toxic RNA, which accumulates in the cell and prevents the production of proteins needed for normal cellular function. (drugs.com)
  • Isis' DM1 antisense program is being developed to correct the underlying genetic defect that causes DM1. (drugs.com)
  • Danon disease involves a genetic defect (mutation) in a gene called LAMP2, which results in a change to the normal protein structure. (wikipedia.org)
  • proteins
  • This project aimed to study the relationships between structure and function of proteins that reduce the risk of genetic abnormalities in humans and yeast. (wikipedia.org)
  • The first project involved the identification and characterization of proteins implicated in several neuromuscular diseases, as well as the prediction of protein domains and tissue-specific functions. (wikipedia.org)
  • diagnose
  • The milder and more subtle symptoms in females can make it more difficult to diagnose females with Danon Disease It is associated with LAMP2. (wikipedia.org)
  • symptoms
  • Genetic testing can aid in identifying people at risk of developing DM1, but there are no treatments available to delay the onset of symptoms or slow down the progression. (drugs.com)
  • Males In males the symptoms of Danon Disease are more severe. (wikipedia.org)
  • 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: A later age of onset of symptoms. (wikipedia.org)
  • Danon Disease has overlapping symptoms with another rare genetic condition called 'Pompe' disease. (wikipedia.org)
  • novel
  • Dr. Lloyd is developing genetic and pharmacologic screens to identify novel drug targets for motor neuron diseases. (hopkinsmedicine.org)
  • WESTON, Mass. & CARLSBAD, Calif.--(BUSINESS WIRE)--Jun 29, 2012 - Biogen Idec (NASDAQ: BIIB) and Isis Pharmaceuticals, Inc. (NASDAQ: ISIS) today announced that they have entered into an exclusive, worldwide option and collaboration agreement under which the companies will develop and commercialize a novel antisense drug for the treatment of myotonic dystrophy type 1 (DM1), which is also known as Steinert disease. (drugs.com)
  • mutation
  • The mutation rate, estimated by different methods and from different population studies, is in the order of 7×10 -5 , which is higher than for any other X-linked genetic disease. (springer.com)
  • Moreover, unlike other X linked diseases such as hemophilia A or Lesh-Nyhan's disease, there seems to be no sex difference for the mutation rates in DMD. (springer.com)
  • Fazio-Londe disease is linked to a genetic mutation in the SLC52A3 gene on chromosome 20 (locus: 20p13). (wikipedia.org)
  • therapeutic
  • This urges a collaborative effort among clinicians and scientists who work on diagnosis, pathogenesis, and on therapeutic approaches in neuromuscular diseases. (ncl.ac.uk)
  • The third project, at the scale of an organism, was to identify new potential therapeutic targets in Vibrio cholerae and bacterial diarrhea organisms involved in diarrhoeal diseases Two projects were selected in 2003/2004. (wikipedia.org)
  • Myotonic
  • Myotonic dystrophy is a debilitating neuromuscular disease that often affects entire families," said Steven H. Holtzman, Executive Vice President of Corporate Development at Biogen Idec. (drugs.com)
  • congenital
  • The Congenital Muscle Disease Patient and Proxy Reported Outcome Study (CMDPROS) is a longitudinal 10 year study to identify and trend care parameters, adverse events in the congenital muscle diseases using the Congenital Muscle Disease International Registry (CMDIR) to acquire necessary data for adverse event calculations (intake survey and medical records curation). (clinicaltrials.gov)
  • The registry includes affected individuals with congenital muscular dystrophy, congenital myopathy, and congenital myasthenic syndrome and registers through the late onset spectrum for these disease groups. (clinicaltrials.gov)
  • To use patient and proxy reported survey answers and medical reports to build a longitudinal care and outcomes database across the congenital muscle diseases. (clinicaltrials.gov)
  • To generate congenital muscle disease subtype specific adverse event rates and correlate with key care parameters. (clinicaltrials.gov)
  • The Congenital Muscle Disease Patient and Proxy Reported Outcome Study (CMDPROS) is a longitudinal 10 year observational study to identify care and trend key care parameters and adverse events in the congenital muscle diseases using the Congenital Muscle Disease International Registry (CMDIR). (clinicaltrials.gov)
  • Primary outcome will be analyzed by congenital muscle disease subtype and maximal ambulatory status achieved. (clinicaltrials.gov)
  • This category divides neuromuscular diseases into three broad categories: immune-mediated disease, toxic/metabolic and congenital syndromes. (wikipedia.org)
  • An estimated 65% of scoliosis cases are idiopathic, about 15% are congenital and about 10% are secondary to a neuromuscular disease. (wikipedia.org)
  • protein
  • As new genes are found that may be linked to ALS in families or individuals, the investigators can then further study how that gene may be contributing to the disease by studying it down to the protein and molecular level. (clinicaltrials.gov)
  • Also present is the receptor tyrosine kinase protein MuSK, a signaling protein involved in the development of the neuromuscular junction, which is also held in place by rapsyn. (wikipedia.org)
  • 98, 344-362 Jockusch H. Stability and genetic variation of a structural protein. (wikipedia.org)
  • progression
  • The severity and progression of the disease varies from person to person, life expectancy ranges from early childhood to adulthood. (roche.com)
  • The unmet need is great, and there are currently no therapies to slow or stop progression of the disease. (drugs.com)
  • muscles
  • Neuromuscular disease is a very broad term that encompasses many diseases and ailments that impair the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions. (wikipedia.org)
  • Neuromuscular diseases are those that affect the muscles and/or their direct nervous system control, problems with central nervous control can cause either spasticity or some degree of paralysis (from both lower and upper motor neuron disorders), depending on the location and the nature of the problem. (wikipedia.org)
  • cause
  • The purpose of this study is to identify additional genes that may cause or put a person at risk for either familial ALS (meaning 2 or more people in a family who have had ALS), sporadic ALS, or other forms of motor neuron disease in the hopes of improving diagnosis and treatment. (clinicaltrials.gov)
  • Typically, SMA presents in early childhood and is the most common genetic cause of infant mortality i . (roche.com)
  • therefore, it depends on the disease Other management routes for NMD should be based on medicinal and surgical procedures, again depending on the underlying cause. (wikipedia.org)
  • Although the genetic cause of Danon Disease is known, the mechanism of disease is not well understood. (wikipedia.org)
  • The cause of most cases is unknown but believed to involve a combination of genetic and environmental factors. (wikipedia.org)
  • Medicine
  • DM1 is a progressive disease that leads to the gradual loss of muscle function," said Charles A. Thornton, M.D., School of Medicine at University of Rochester Medical Center. (drugs.com)
  • models
  • Mechanisms of muscle fibre damage and repair are studied in zebrafish and mouse models for the diseases. (ncl.ac.uk)
  • Other applications of flightless flies include using them as convenient feeders for a variety of companion animals and even as test subjects in aeronautical research Lloyd, T. E. and Taylor, J. P. (2010), Flightless flies: Drosophila models of neuromuscular disease. (wikipedia.org)
  • onset
  • Features of Danon Disease in males are: 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)