Early diagnosis of the underlying cause of hypotonia in infants is challenging given the extensive differential. However, early therapeutic intervention in treatable neuromuscular disorders, specifically Spinal Muscular Atrophy and Pompe disease, preserves muscle function, improves quality of life, and increases survival rates. Attendees will attain an enhanced understanding of early clinical presentation and current management guidelines to reduce diagnostic delay. 

At the conclusion of the session, participants should be able to: 

• Describe the importance of early diagnosis and treatment of infants with treatable neuromuscular diseases, specifically Spinal Muscular Atrophy and Pompe disease
• Recognize the early clinical presentation of Spinal Muscular Atrophy and Pompe disease
• Differentiate Spinal Muscular Atrophy and Pompe disease from other causes of infantile hypotonia
• Summarize current standards of care for infants diagnosed with Spinal Muscular Atrophy and Pompe
• Understand the status of newborn screening for both Spinal Muscular Atrophy and Pompe Disease 

REGISTER ▶

Keynote Speakers include:

Dr. Claudia Chiriboga, MD, MPH - Professor of Neurology and Pediatrics (in the Gertrude H. Sergievsky Center) at Columbia University Medical Center

Lauren Bailey, MS, CGC - Genetic Counselor, Department of Pediatrics, Duke University Medical Center

Mary Dunkle - Vice President of Educational Initiative, NORD

Panelists include: 

Tiffany House - President, Acid Maltase Deficiency Association; Chair, International Pompe Association 

Rosangel Cruz - Director of Research and Clinical Affairs, Cure SMA

Mary Curry, ND (Moderator) - Senior Manager of Clinical Affairs, Cure SMA

Provided by

Accreditation Statement 

This activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint providership of The France Foundation and Cure SMA. The France Foundation is accredited by the ACCME to provide continuing medical education for physicians. 

Credit Designation

Physicians

The France Foundation designates this live activity for a maximum of 1.5 AMA PRA Category 1 Credit(s). Physicians should claim only the credit commensurate with the extent of their participation in the activity. 

Maintenance of Certification

Successful completion of this CME activity, which includes participation in the activity, with individual assessments of the participant and feedback of the participant, enables the participant to earn 1.5 MOC points in the American Board of Pediatrics' (ABP) Maintenance of Certification (MOC) program. It is the CME activity provider's responsibility to submit participant completion information to ACCME for the purpose of granting ABP MOC credit. 

REGISTER ▶