title: Muscle MRI in adult-onset acid maltase deficiency.
abstract: We report the spectrum of muscle involvement on magnetic resonance imaging in 11 patients with a molecularly confirmed diagnosis of adult-onset acid maltase deficiency at different clinical stages. Muscle magnetic resonance imaging showed a selective progressive pattern of muscle involvement with a constant involvement of the adductor magnus and semimembranosus at the early stage of the disease and a later fatty infiltration of the long head of the biceps femoris, semitendinosus and of the anterior thigh muscles. In the advanced phases a selective sparing of sartorius, rectus, and gracilis muscles and peripheral portions of the vastus lateralis was also evident. Muscle strength and magnetic resonance imaging findings were positively correlated. The results suggest that muscle magnetic resonance imaging may provide valuable diagnostic guidance for the assessment of accurate selective muscular involvement in acid maltase deficiency and may help monitor the progression of the disorder. Further control studies in a larger cohort are needed to evaluate the specificity of these findings.
authors.affiliation: Department of Neuroradiology, Fondazione "Istituto Neurologico C. Mondino" IRCCS, Via Palestro 3, 27100, Pavia, Italy. annapichiecchio@monodino.it
authors.forename: Anna
authors.initials: A
authors.lastname: Pichiecchio
authors.forename: Carla
authors.initials: C
authors.lastname: Uggetti
authors.forename: Sabrina
authors.initials: S
authors.lastname: Ravaglia
authors.forename: Maria Grazia
authors.initials: MG
authors.lastname: Egitto
authors.forename: Miriam
authors.initials: M
authors.lastname: Rossi
authors.forename: Giorgio
authors.initials: G
authors.lastname: Sandrini
authors.forename: Cesare
authors.initials: C
authors.lastname: Danesino
mesh_terms: D000328:Adult; D017668:Age of Onset; D003430:Cross-Sectional Studies; D003937:Diagnosis, Differential; D018450:Disease Progression; D005260:Female; D005087:Glucan 1,4-alpha-Glucosidase / Q000172:deficiency* / Q000235:genetics; D006009:Glycogen Storage Disease Type II / Q000201:enzymology / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007866:Leg / Q000473:pathology / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology* / Q000503:physiopathology; D011237:Predictive Value of Tests; D013848:Thigh / Q000473:pathology / Q000503:physiopathology; D000520:alpha-Glucosidases
chemical_list: D000520:alpha-Glucosidases; D005087:Glucan 1,4-alpha-Glucosidase