Abstract Details

Title Wrong Diagnoses Prior to the Ultimate Diagnosis of Late-onset Pompe Disease: A Multicenter Experience

Topic Neuromuscular and Clinical Neurophysiology (EMG)

Presentation(s) P3 - Poster Session 3 (5:30 PM-6:30 PM)

Poster/Presentation
Number 11-011

Background Pompe Disease is an autosomal recessive glycogen storage disease, characterized by a skeletal myopathy and respiratory insufficiency, caused by deficiency of acid alpha-glucosidase (GAA), which leads to the accumulation of lysosomal glycogen. With emerging newborn screening data, the incidence of LOPD appears to be much higher than previously estimated and approximates that of more common inherited neuromuscular disorders, such as Myotonic Dystrophy (DM1) and Facioscapulohumeral Muscular Dystrophy (FSHD). However, most large neuromuscular clinics do not have as many LOPD patients as FSHD and DM1, suggesting that these patients are either misdiagnosed or that not all mutations in LOPD are fully penetrant. LOPD is a treatable condition and early diagnosis results in earlier initiation of life-saving enzyme replacement.

Objective To provide further details on previous misdiagnoses in patients ultimately diagnosed with Late Onset Pompe Disease (LOPD). This abstract covers various misdiagnoses conferred prior to the ultimately delayed diagnosis of LOPD leading to delays in initiation of treatment.

Design/Methods Case series compiled from 6 academic medical centers describing twenty-six patients who initially received an incorrect diagnosis but were ultimately diagnosed with LOPD.

Results

Previous diagnoses included: limb-girdle muscular dystrophy, Oculopharyngeal Muscular Dystrophy, nonspecific muscular dystrophy, inflammatory myositis, liver disease which in some cases lead to multiple liver biopsies, bilateral phrenic nerve palsies, lumbosacral radiculopathy, and in one child primary respiratory failure. Average time from onset of symptoms to age of diagnosis when specific ages were available was 10 years.

Conclusions

Pompe Disease is underrecognized and can be misdiagnosed as a variety of other conditions including muscular dystrophy, inflammatory myositis, or even hepatic disease. These misdiagnoses lead to delays in initiation of treatment and result in morbidity and mortality for patients. There is a need for education for physicians to recognize symptoms of LOPD and refer them accordingly to appropriate specialty centers.

Authors/Disclosures
PRESENTER	No disclosure on file
Dennis Huang, MD (Dennis Huang)	Dr. Huang has nothing to disclose.
Marie Wencel, CCRP (University of California, Irvine)	Ms. Wencel has nothing to disclose.
Suur Biliciler, MD	Dr. Biliciler has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Efficient CME. Dr. Biliciler has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Argenyx.
Yessar M. Hussain, MD (Austin Neuromuscular Center)	The institution of Dr. Hussain has received research support from Alnylam Pharma.
Shafeeq Ladha, MD (Barrow Neurological Institute)	Dr. Ladha has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Biogen. Dr. Ladha has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Sanofi. Dr. Ladha has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Amylyx. Dr. Ladha has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Genentech. Dr. Ladha has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Annexon. Dr. Ladha has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Amicus. Dr. Ladha has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Neurosense. Dr. Ladha has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Rapa Therapeutics. Dr. Ladha has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for Biogen. Dr. Ladha has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for Sanofi. Dr. Ladha has received personal compensation in the range of $50,000-$99,999 for serving on a Speakers Bureau for Genentech. The institution of Dr. Ladha has received research support from Biogen. The institution of Dr. Ladha has received research support from Sanofi.
Andrew Heim	No disclosure on file
Mazen M. Dimachkie, MD, FAAN (University of Kansas Medical Center)	Dr. Dimachkie has received personal compensation in the range of $500-$4,999 for serving as a Consultant for EcoR1 Capital, LLC. Dr. Dimachkie has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Cello Health BioConsulting, previously Defined Health. Dr. Dimachkie has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Sanofi. Dr. Dimachkie has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for CSL Behring. Dr. Dimachkie has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Octapharma. Dr. Dimachkie has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for ArgenX. Dr. Dimachkie has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Spark Therapeutics. Dr. Dimachkie has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for RAF-5. Dr. Dimachkie has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Houston NeuroCare. Dr. Dimachkie has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Shire. Dr. Dimachkie has received personal compensation in the range of $50,000-$99,999 for serving as a Consultant for Catalyst. Dr. Dimachkie has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Kezar. Dr. Dimachkie has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for RaPharma/UCB. Dr. Dimachkie has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for ArgenX. Dr. Dimachkie has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Sanofi. An immediate family member of Dr. Dimachkie has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Kezar. Dr. Dimachkie has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Catalyst. Dr. Dimachkie has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Takeda. Dr. Dimachkie has received personal compensation in the range of $500-$4,999 for serving as a Consultant for SCHOLAR Rock. Dr. Dimachkie has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Jenssen. Dr. Dimachkie has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Amazentis / Vandria. Dr. Dimachkie has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Spark Therapeutics. Dr. Dimachkie has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Roivant. Dr. Dimachkie has received personal compensation in the range of $500-$4,999 for serving as a Consultant for SANEM. Dr. Dimachkie has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Medlink. Dr. Dimachkie has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for CSL Behring. Dr. Dimachkie has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Third Rock. Dr. Dimachkie has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Orphazyme . Dr. Dimachkie has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Astellas. Dr. Dimachkie has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Janssen. Dr. Dimachkie has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Roivant . Dr. Dimachkie has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Dianthus. Dr. Dimachkie has received personal compensation in the range of $500-$4,999 for serving as a Consultant for TACT / Treat NMD. Dr. Dimachkie has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Cabaletta Bio. Dr. Dimachkie has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Clinical Neurological Society of America, Inc . Dr. Dimachkie has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Ig Society, Inc. Dr. Dimachkie has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Abcuro. Dr. Dimachkie has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Covance / Labcorp. The institution of Dr. Dimachkie has received research support from CSL Behring. The institution of Dr. Dimachkie has received research support from Orphazyme. The institution of Dr. Dimachkie has received research support from FDA-OOPD. The institution of Dr. Dimachkie has received research support from NIH. Dr. Dimachkie has received intellectual property interests from a discovery or technology relating to health care. Dr. Dimachkie has received publishing royalties from a publication relating to health care.
Alan Pestronk, MD, FAAN (Washington University in Saint Louis - Neurology)	The institution of Dr. Pestronk has received research support from RA. The institution of Dr. Pestronk has received research support from Fulcrum. The institution of Dr. Pestronk has received research support from Acceleron. The institution of Dr. Pestronk has received research support from Biogen. The institution of Dr. Pestronk has received research support from Jain. The institution of Dr. Pestronk has received research support from Sanofi. The institution of Dr. Pestronk has received research support from Muscular Dystrophy Association. Dr. Pestronk has received intellectual property interests from a discovery or technology relating to health care.
Tahseen Mozaffar, MD, FAAN (University of California Irvine)	Dr. Mozaffar has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Alexion Pharmaceuticals. Dr. Mozaffar has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Argenx. Dr. Mozaffar has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Sanofi-Genzyme. Dr. Mozaffar has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Amicus. Dr. Mozaffar has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Modis Therapeutics. Dr. Mozaffar has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for UCB/ Ra Pharmaceuticals. Dr. Mozaffar has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Maze Therapeutics. Dr. Mozaffar has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Spark Therapeutics. Dr. Mozaffar has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sarepta. Dr. Mozaffar has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for National Institutes of Health. Dr. Mozaffar has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for Argenx. Dr. Mozaffar has received personal compensation in the range of $500-$4,999 for serving as an officer or member of the Board of Directors for Neuromuscular Disease Foundation. The institution of Dr. Mozaffar has received research support from NIH. The institution of Dr. Mozaffar has received research support from Muscular Dystrophy Association. The institution of Dr. Mozaffar has received research support from Sanofi-Genzyme. The institution of Dr. Mozaffar has received research support from Argenx. The institution of Dr. Mozaffar has received research support from Amicus Therapeutics. The institution of Dr. Mozaffar has received research support from Spark Therapeutics. The institution of Dr. Mozaffar has received research support from Audentes Therapeutics. The institution of Dr. Mozaffar has received research support from Cartesian. Dr. Mozaffar has received personal compensation in the range of $500-$4,999 for serving as a Study Section Member with NIH.