Muscle computed tomography in adult-onset acid maltase deficiency

Physical therapy management of Pompe disease

“…1,3,4,23,24 Patterns of muscle involvement are listed in Table 2. 1,3,4,23,[25][26][27] With progression, weakness can become profound. 7 CT and MRI of muscles in adults with Pompe disease show atrophy, fatty infiltration, and degeneration.…”

“…7 CT and MRI of muscles in adults with Pompe disease show atrophy, fatty infiltration, and degeneration. [25][26][27] Cardiac involvement is not typical in late-onset disease but respiratory involvement may be relatively more severe than skeletal muscle involvement and can be the presenting feature, with apparent selective involvement of the diaphragm. 1,4 Pathokinesiology of motor function and disease progression Pathokinesiology in Pompe disease, as in all motor unit diseases, is characterized by a self-perpetuating cycle in which progressive imbalanced muscle weakness, compensatory movement patterns and postural habits, and the influence of gravity interact in the progression of disability.…”

Bioimpedance Analysis as a Method to Evaluate the Proportion of Fatty and Muscle Tissues in Progressive Myopathy in Pompe Disease

“…In recent years, several studies have reported the use of muscle MRI as a useful noninvasive technique for the assessment of neuromuscular disorders (Mercuri et al 2002a; De Jager et al 1998;Paradas et al 2010;Fisher et al 2005;Wattjes et al 2010). In this study, the authors introduce a completely new, simple to perform, and reliable diagnostic method to assess the progress of the muscle atrophy process in myopathies.…”

Challenges in diagnosis and treatment of late-onset Pompe disease

“…Computed tomography scan (CT-scan) and MRI with T1-weighted spin echo sequences allow rapid estimation of trophism and detection of specific areas with fatty replacement in muscles. Selectivity and specificity of muscle involvement in Pompe disease have been evaluated only in a few reports [20,21]. In LOPD, paraspinal muscles, psoas, ventrolateral muscles, rectus abdomini, and muscles of the posterior thigh are mostly affected with a symmetric distribution.…”