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Diseases

Genetic and Rare Diseases Information Center (GARD)

Muscular dystrophy, congenital, infantile with cataract and hypogonadism


Other Names for this Disease
  • Familial congenital muscular dystrophy with gonadal dysgenesis
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News & Events


News


NCATS Co-Sponsored Conferences

  • New Directions in Biology and Disease of Skeletal Muscle, Sunday, June 29, 2014 - Wednesday, July 02, 2014
    Location: Chicago, IL
    Description: The goals of the New Directions conference are to: (1) provide a unique forum for presentation and sharing of unpublished data, (2) promote collaboration between industry and academic investigators, (3) provide an interactive forum for clinical trial planning and outcome measure development, (4) facilitate the identification of both common and unique targets for each neuromuscular disease, and (5) provide trainees and young investigators a forum in which to present data and to encourage trainees to remain studying neuromuscular disease.

  • Congenital Muscular Dystrophy: From Clinical Pathology to Underlying Scientific Mechanisms, Exploring the Role of the Myomatrix, Sunday, April 22, 2012 - Tuesday, April 24, 2012
    Location: University of Nevada School of Medicine, Center for Molecular Medicine, Reno, NV
    Description: The goals of the conference are to: 1) Establish the current state of knowledge in different myomatrix research areas germane to the CMDs and to dystrophic pathology, 2) Explore novel mechanisms, intersections and crosstalk of relevant mechanisms and perform comparative analysis across disease models, 3) Design effective strategies and platforms to pursue treatment development for key aspects of CMD clinical pathology to drive future translational opportunities

  • Nutritional Challenges in the High-Risk Infant, Monday, September 14, 2009 - Tuesday, September 15, 2009
    Location: DC Metro Area,
    Description: Evidence was critically evaluated at this workshop. Current gaps in knowledge in this area were identified and research priorities were formulated. The workshop summary will provide NICHD and the scientific community a template to address the scientific and clinical issues related to nutrition and neonatal care.

Other Names for this Disease
  • Familial congenital muscular dystrophy with gonadal dysgenesis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.