The Discretionary Advisory Committee on Heritable Disorders in Newborns and Children (DACHDNC) today voted to add Pompe disease (acid maltase deficiency) to a list of diseases that it recommends states screen for in newborns.

Proposals exploring the feasibility and advisability of implementating newborn screening for two disorders in MDA's program — Duchenne muscular dystrophy and Pompe disease— were presented to a federal advisory committee in a "virtual" meeting Jan. 31 and Feb. 1, 2013.

An international patientregistry (database) is gathering information about children and adults with any form of congenital muscular dystrophy (CMD), a congenital myasthenic syndrome or a congenital myopathy (congenital muscle disease), with the goals of promoting research and improving care in these disorders.

As scientists learn more about what our DNA can tell us about health and disease, public interest has intensified and genetic testing has become increasingly common. In response, the American Academy of Pediatrics (AAP) and the American College of Medical Genetics and Genomics (ACMG) have released new guidelines to address updated technologies and new uses of genetic testing and screening in children.

MDA is conducting a survey designed to assess the experiences of parents in the United States whose babies underwent newborn screening at the time of birth, with an eye toward the future possibility of newborn screening tests being recommended for certain neuromuscular diseases in which therapy development is advancing rapidly.

Respondents to MDA’s Transitions Survey — in other words, people with a neuromuscular disease who are in their teens through late 30s — made it clear they had questions about the genetics of their disease, as well as questions about family planning and the value of diagnostic testing.

MDA’s Genetic Counseling Webinar, which occurred Feb. 22, 2012, answers many of those questions.