Quantitative muscle ultrasound and electrical impedance myography in late onset Pompe disease: A pilot study of reliability, longitudinal change and correlation with function.

Background/objectives: Late-onset Pompe disease (LOPD) is slowly progressive, making it difficult to assess clinical change and response to interventions. In this study, quantitative muscle ultrasonography (QMUS) and electrical impedance myography (EIM) were evaluated as potential biomarkers.

Methods: 25 patients with confirmed LOPD were recruited from the Duke Pompe Clinic and evaluated with standard clinical measures, QMUS, standard EIM (sEIM) and hand-held EIM (hEIM).

Tongue weakness and atrophy differentiates late-onset Pompe disease from other forms of acquired/hereditary myopathy.

Late-onset Pompe disease (LOPD) is an inherited autosomal recessive progressive metabolic myopathy that presents in the first year of life to adulthood. Clinical presentation is heterogeneous, differential diagnosis is challenging, and diagnostic delay is common. One challenge to differential diagnosis is the overlap of clinical features with those encountered in other forms of acquired/hereditary myopathy.

Point of Care Quantitative Assessment of Muscle Health in Older Individuals: An Investigation of Quantitative Muscle Ultrasound and Electrical Impedance Myography Techniques.

Muscle health is recognized for its critical role in the functionality and well-being of older adults. Readily accessible, reliable, and inexpensive methods of measuring muscle health are needed to advance research and clinical care. In this prospective, blinded study, 27 patients underwent quantitative muscle ultrasound (QMUS), standard electrical impedance myography (sEIM), and handheld electrical impedance myography (hEIM) of the anterior thigh musculature by two independent examiners.