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  • clinical
  • Most of these diseases present with wide clinical heterogeneity and the limbgirdle phenotype should be regarded as one of the possible phenotypic expressions of a specific protein defect. (els.net)
  • Therefore, a precise clinical evaluation is often difficult, and an appropriate diagnostic approach using clinical, pathological, biochemical and genetic resources is essential to achieve the correct diagnosis. (els.net)
  • This review reports a comprehensive update on the genetic bases and the main clinical aspects of these groups of diseases according to protein defect and transmission modality. (els.net)
  • prognosis
  • However, the prognosis in limb-girdle muscular dystrophy with regard to mobility, self-care, and the maintenance of the ability to work is dependent on the aggressive, goal-directed management described in various subsections of this article. (medscape.com)
  • familial
  • Bare lymphocyte syndrome high in western Arabic block Morocco, type II Limb-girdle muscular dystrophy, type 2C in Libya, Hemolytic-uremic syndrome in Saudia, Ankylosing spondylitis in Egypt &East block, Alpha-thalassemia in all countries minus Egypt Syria Iraq, Cystic Fibrosis in Iraq Saudi Yemen Libya Morocco, Familial Mediterranean Fever fmf in east block and Libya Morocco, beta Thalassemia in all countries, g6dh deficiency all countries. (wikipedia.org)
  • The palladin mutation identified in familial pancreatic cancer may be unique to a single North American family, as this same mutation has not been found in any other European or North American populations, respectively, in two other genetic studies. (wikipedia.org)
  • symptoms
  • The signs and symptoms consistent with muscular dystrophy are: Progressive muscular wasting Poor balance Scoliosis (curvature of the spine and the back) Progressive inability to walk Waddling gait Calf deformation Limited range of movement Respiratory difficulty Cardiomyopathy Muscle spasms Gowers' sign These conditions are generally inherited, and the different muscular dystrophies follow various inheritance patterns. (wikipedia.org)
  • TRIM32
  • No difference has been observed between wild-type and LHMD2H-mutated TRIM32 in terms of actin or myosin binding, however, and thus the mechanism which causes the muscular dystrophy, LGMD2H, is still unknown. (wikipedia.org)
  • Limb-girdle muscular dystrophy type2H (LGMD2H): LGMD2H is caused by 4 mutations of TRIM32 in the C-terminal NHL domain: D487N (third NHL repeat), R394H (first NHL repeat), T520TfsX13 (fourth NHL repeat), and D588del (fifth NHL repeat). (wikipedia.org)
  • muscles
  • We report and analyze the consequences of genetic or pharmacological modulation of MMP levels on the inflammation of skeletal muscles and their repair in light of experimental findings. (iospress.com)
  • variants
  • Specifically, genetic variants studies at PSMD3 indicated that its involvement in the regulation of insulin signal transduction could be effected by dietary factors. (wikipedia.org)
  • disorders
  • Several experimental and clinical studies have indicated that aberrations and deregulations of the UPS contribute to the pathogenesis of several neurodegenerative and myodegenerative disorders, including Alzheimer's disease, Parkinson's disease and Pick's disease, Amyotrophic lateral sclerosis (ALS), Huntington's disease, Creutzfeldt-Jakob disease, and motor neuron diseases, polyglutamine (PolyQ) diseases, Muscular dystrophies and several rare forms of neurodegenerative diseases associated with dementia. (wikipedia.org)
  • Based in Dubai, United Arab Emirates, it indicates that Arab countries have among the highest rates of genetic disorders in the world. (wikipedia.org)
  • It initiated a pilot project to construct the Catalogue for Transmission Genetics in Arabs (CTGA) database for genetic disorders in Arab populations. (wikipedia.org)
  • This number is increasing as researchers are joining the largest Arab scientific effort to define genetic disorders described in the region. (wikipedia.org)
  • Some of the genetic disorders endemic to the Arab world are: hemoglobinopathy, sickle cell anemia, glucose-6-phosphate dehydrogenase deficiency, and fragile X syndrome (FXS), which is an inherited genetic condition with critical consequences. (wikipedia.org)
  • Dr Thurman' guidebook about Rare genetic diseases another book Arabic genetic disorders layman guide Suadi Journal article about genetic diseases in Arabic countries The highest proportion of genetic disorders manifestations are: congenital malformations followed by endocrine metabolic disorders and then by Neuron disorders (such as Neuromotor disease)and then by blood immune disorders and then neoplasms. (wikipedia.org)
  • Mothers could test for genetic disorders in the fetus by method of chorionic villus sampling (CVS) or amniocentesis. (wikipedia.org)
  • At least two well known genetic disorders and one form of cancer have been linked to tissue-specific calpains. (wikipedia.org)
  • rare
  • If you study rare diseases or are a doctor treating rare diseases or a genetic counselor, please take action and support the campaign. (addiandcassi.com)
  • problems
  • When first suspecting that a child has muscular dystrophy, a doctor will do a physical exam, take a family history, and ask about any problems - particularly those affecting the muscles - that the child might be having. (kidshealth.org)
  • tests
  • Other tests that can be done are chest X-ray, echocardiogram, CT scan, and magnetic resonance image scan, which via a magnetic field can produce images whose detail helps diagnose muscular dystrophy. (wikipedia.org)