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Abstract Details

Stapedius Reflex Testing Demonstrates Impaired Small Muscle Function in Untreated Pompe Patients and Improvement after Enzyme Replacement Therapy
Muscle Disease/Neuromuscular Junction
P07 - (-)
028
BACKGROUND: Pompe disease primarily affects skeletal and cardiac muscles. Assessing enzyme-replacement-therapy (ERT) efficacy is difficult if only based on improvement in large limb-girdle muscle-weakness, gait-endurance, or respiratory function, i.e. parameters depending on varying patient-performance. In contrast, muscle-improvement might be more readily and objectively shown by assessing function of very small muscles, such as the stapedius and tensor tympani muscles.
DESIGN/METHODS: In four Pompe patients, we assessed ipsilateral stapedius-reflex-thresholds in both ears one and two years after first dosage of biweekly ERT with alglucosidase alfa庐 (MyozymeTM, 20 mg/kgKG i.v.). In two patients, stapedius-reflex-thresholds were assessed before ERT-onset. Muscle tension of stapedius and tensor tympani muscles was determined by measuring acoustic impedance at the tympanic membrane in response to single bursts of 0.5, 1, 2, and 4 kHz tones. Reflex-thresholds between 70 and 90dB are considered normal; higher responses indicate impaired reflex-thresholds.
RESULTS: Patient 1 (female, 46 years) had no stapedius-reflex-responses before ERT-onset, reflexes-thresholds of 98.8/87.5dB (right/left ear) one year after ERT-onset, and reflexes-thresholds of 91.3/87.5dB (right/left) two years after ERT-onset. Patient 2 (male, 65 years) had reflexes-thresholds of 98.8/93.8dB (right/left) before ERT-onset, reflexes-thresholds of 86.3/91.3dB (right/left) one year after ERT-onset, and reflexes-thresholds of 90.0/91.3dB (right/left) two years after ERT-onset. Patient 3 (female, 53 years) had reflexes-thresholds of 93.8dB (right) and no stapedius-reflex-responses (left) one year after ERT-onset, and reflexes-thresholds of 96.3/98.8dB (right/left) two years after ERT-onset. Patient 4 (female, 69 years) had reflexes-thresholds of 85.0/85.0dB (right/left) one year after ERT-onset, and reflex-thresholds of 80.0/81.3dB (right/left) two years after ERT-onset.
CONCLUSIONS: In untreated Pompe patients, stapedius-reflex-testing demonstrates impaired small muscle function, whereas stapedius-reflex-thresholds improved after one and two years of ERT. Stapedius-reflex-testing seems suited to objectively demonstrate muscle-improvement with ERT.
Authors/Disclosures
Max J. Hilz, MD, PhD, FAAN
PRESENTER 		Dr. Hilz has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for SANOFI. Dr. Hilz has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Pfizer. Dr. Hilz has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Elsevier.
No disclosure on file
Julia Koehn, MD (University of Erlangen-Nuremberg) No disclosure on file
Vladimir S. Kostic, MD, PhD (Institute of Neurology CCS) Dr. Kostic has received personal compensation in the range of $0-$499 for serving on a Speakers Bureau for Roche. An immediate family member of Dr. Kostic has received personal compensation in the range of $0-$499 for serving on a Speakers Bureau for Alkaloid. The institution of Dr. Kostic has received research support from Ministry of 好色先生, Science and Technological Development of Serbia.