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Early Detection and Screening for Neuromuscular Diseases

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March 16-17, 2009


Intellectual and Developmental Disabilities (IDD) Branch , Center for Developmental Biology and Perinatal Medicine (CDBPM), NICHD; Office of Rare Diseases, NIH Office of the Director; National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH; Centers for Disease Control and Prevention; Health Resources and Services Administration; American College of Medical Genetics; and National Newborn Screening and Genetics Resource Center


Bethesda North Marriott, Bethesda, Maryland


Currently, many treatments with considerable promise for effectively treating neuromuscular diseases are entering clinical trials. As successful therapies are developed, it is very likely that the early detection and treatment of neuromuscular diseases in newborns and infants will be critical for reducing morbidity and mortality and for providing the best outcomes. This conference will bring together approximately 80 scientists, health care providers, public health leaders, ethicists, patient advocacy groups, and families to:

  • Assess the status of neuromuscular diseases in terms of their readiness for early detection and screening;
  • Share the qualifying parameters to be considered for early detection and screening; and
  • Determine the needs of neuromuscular disease communities (infrastructure and policy) and what opportunities (fiscal and intellectual) are required to support their quest to screen for these conditions.

More Information


Gilian Engelson, IDD Branch, CDBPM, NICHD
Phone: 301-496-8535

Last Reviewed: 11/30/2012
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