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1 st Annual New England Pompe Family Support Group Meeting

1 st Annual New England Pompe Family Support Group Meeting. Marsha Fearing Browning, M.D., M.P.H. Virginia M. Clark, RN. Massachusetts General Hospital. July 22, 2007. AGENDA. 9:00 Brunch 9:30 Welcoming Comments – Dr. Browning 9:45 Updates on Clinical Aspects– Dr. Marsden

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1 st Annual New England Pompe Family Support Group Meeting

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  1. 1st Annual New England Pompe Family Support Group Meeting Marsha Fearing Browning, M.D., M.P.H. Virginia M. Clark, RN Massachusetts General Hospital July 22, 2007

  2. AGENDA 9:00 Brunch 9:30 Welcoming Comments – Dr. Browning 9:45 Updates on Clinical Aspects– Dr. Marsden 10:30 Physical Therapy – Dr. Miller 10:40 Pulmonary Aspects – Dr. Bach 11:20 PANEL DISCUSSION 12:30 Departure

  3. OVERVIEW WHAT IS POMPE’S DISEASE? • Synonyms • Glycogen storage disease, type II (GSD-II) • Glycogenosis, type II • Acid maltase deficiency (AMD) • Disease Families • Lysosomal storage disease • Glycogen storage disease • Neuromuscular disease/metabolic muscle disease

  4. GSDII (Pompe Disease) Enzyme Deficiency: α-glucosidase (GAA) Pathology: Accumulation of glycogen in tissues, primarily muscles Inheritance: Autosomal Recessive Frequency: Overall: 1:40,000 Onset: Infantile onset: within 1st year of life Late onset: childhood to adulthood Clinical Course: Infantile onset: death in 1st year of life Late onset: Variable progression

  5. Pompe Disease Signs &Symptoms Infantile onset < 12 months Late onset > 12 months Daytime somnolence Morning headache Head lag Shortness of breath/sleep apnea Respiratoryinsufficiency Enlarged tongue Cardiomegaly/cardiomyopathy Scapular winging Respiratoryinsufficiency Scoliosis Low back pain Delayed motordevelopment Gait abnormality Organomegaly Muscle weakness Muscle weakness Look for unusual symptoms or clusters of more common symptoms Hirschhorn R, Reuser AJJ. In: The Metabolic and Molecular Bases of Inherited Disease. 2001:3389-3420.

  6. Pompe Disease Signs &Symptoms Data on file, Genzyme Corporation. Courtesy of R. R. Howell, MD. Enlarged tongue/ lax facial features Hypotonia/head lag/ floppy baby Cardiomegaly

  7. Pompe Disease Signs &Symptoms Lordosis / Scoliosis Weak pelvic girdle muscles

  8. Inheritance Pompe Disease is autosomal recessive: Father Carrier Mother Carrier 1 2 3 4 Affected Individual (25%) Unaffected Carriers (50%) Unaffected Noncarrier (25%) Unaffected (75%)

  9. RESOURCES http://www.mghlysosomal.org Katherine Sims, MD (Director) Marsha Browning, MD, MPH Virginia Clarke, RN Kellie Burke, Coordinator

  10. ACKNOWLEDGMENTS MUSCULAR DYSTROPHY ASSOCIATION GENZYME GENETICS THE PATIENTS AND FAMILIES WITH POMPES DISEASE

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