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