Abstract Details

Title A patient with Late onset Pompe Disease presenting with prominent muscle cramps, proximal lower extremities muscle weakness, and widespread myotonic discharges seen in electromyography.

Topic Neuromuscular and Clinical Neurophysiology (EMG)

Presentation(s) P2 - Poster Session 2 (5:30 PM-6:30 PM)

Poster/Presentation
Number 12-040

Objective A case report.

Background Pompe Disease is a rare metabolic storage disorder with estimated prevalence of 1:40,000 to 1:60,000 which involves deficiency of the enzyme acid alpha glucosidase. This leads to abnormal disposition of glycogen in tissues. Patients with adult onset disease usually presents with progressive weakness in a limb-girdle distribution and early involvement of the diaphragm.

Design/Methods

We present a case of late onset Pompe Disease with early presentation of muscle cramps and proximal lower extremities muscle weakness without respiratory involvement.

Results

A 34-year old female presented with muscle cramps predominantly affecting the proximal upper and lower extremity muscles starting about 10 years ago. She later developed mild difficulty going upstairs. There was no shortness of breath. On examination, she has weakness in the hip flexors and abductor, as well as knee flexers and extensors. CK range between 215-605, aldolase was normal. NCS/EMG shows evidence of myopathy with muscle membrane irritability and myotonic discharges seen in the proximal lower extremity muscles. Muscle biopsy revealed vacuolar myopathy with increased acid phosphatase and PAS staining inside the vacuoles. Genetic testing revealed a pathogenic mutation (GAA (NM_000152.3): c.-32-13T>G, and GAA (NM_000152.3): c.525delT). She has normal pulmonary function test.

Conclusions Diagnosis of late onset-adult Pompe Disease can be difficult and challenging due to variable clinical presentations. The initial complaint of muscle cramps followed by proximal lower extremities muscle weakness is a rare presentation of Pompe Disease. Early suspicion and diagnosis of Pompe Disease is crucial to start the treatment and to improve the outcome.

Authors/Disclosures
Amr H. Ewida, MD (West Virginia University School of Medicine) PRESENTER	Dr. Ewida has nothing to disclose.
	No disclosure on file
Irine Siraj, MD	Dr. Siraj has nothing to disclose.
Ahmed Eldokla	No disclosure on file

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