Muscle & nerve · 2015
Electromyographic findings in 37 patients with adult-onset acid maltase deficiency.
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Kassardjian Charles D, Engel Andrew G, Sorenson Eric J
Аннотация
INTRODUCTION: In acid maltase deficiency (AMD), electrical myotonia (EM) may be restricted to paraspinal muscles. A comprehensive description of the electromyographic (EMG) findings in AMD is lacking. The purpose of this study is to describe the EMG features in adult-onset AMD, focusing on the distribution of EM.
METHODS: A retrospective chart review of AMD patients diagnosed at Mayo Clinic over age 18 years.
RESULTS: Thirty-seven patients were included. Twenty-eight (76%) had EM in at least 1 muscle, and EM was more common in paraspinal and proximal limb muscles. The tensor fasciae latae (TFL) was equally sensitive to the paraspinals for EM. Three of 4 patients had EM identified in the diaphragm.
CONCLUSIONS: Approximately three-quarters of adult-onset AMD patients display EM on EMG. The paraspinal muscles and TFL are the most likely to demonstrate EM, and EM can be detected in the diaphragm of adult onset AMD patients.
METHODS: A retrospective chart review of AMD patients diagnosed at Mayo Clinic over age 18 years.
RESULTS: Thirty-seven patients were included. Twenty-eight (76%) had EM in at least 1 muscle, and EM was more common in paraspinal and proximal limb muscles. The tensor fasciae latae (TFL) was equally sensitive to the paraspinals for EM. Three of 4 patients had EM identified in the diaphragm.
CONCLUSIONS: Approximately three-quarters of adult-onset AMD patients display EM on EMG. The paraspinal muscles and TFL are the most likely to demonstrate EM, and EM can be detected in the diaphragm of adult onset AMD patients.