title: Trunk muscle involvement in late-onset Pompe disease: study of thirty patients.
abstract: Late-onset Pompe disease is characterized by progressive weakness involving proximal limb and respiratory muscles. Recently, treatment with enzyme replacement therapy (ERT) has been introduced partially improving patients' prognosis, but a standard consensus on when to start ERT is still lacking. There is also a lack of biomarkers related to the clinical progression of the disease. Here we used muscle magnetic resonance imaging (MRI) or computed tomography (CT) to study the abdominal and paravertebral muscles of 30 late-onset Pompe patients at different stages of disease. We observed a selective pattern of muscle damage, with early involvement of the Multifidus muscle, followed by the Obliquus internus abdominis and Longissimus muscle. Some degree of trunk involvement on MRI occurred even in asymptomatic patients. Severity of muscle involvement in MRI correlated with patients' functional stage. We suggest that: (a) the combination of paravertebral and abdominal muscle involvement may serve as a useful tool in the diagnostic work-up of patients with a clinical suspicion of Pompe disease; (b) trunk abnormalities appear at very early stages of disease and even in asymptomatic patients, possibly "announcing" the onset of the disease and thus the need for a closer clinical follow-up.
authors.affiliation: Neuromuscular Disorders Unit, Department of Neurology, Universitat Autónoma de Barcelona, Hospital de Santa Creu i Sant Pau, Barcelona, Spain.
authors.forename: Aída
authors.initials: A
authors.lastname: Alejaldre
authors.forename: Jordi
authors.initials: J
authors.lastname: Díaz-Manera
authors.forename: Sabrina
authors.initials: S
authors.lastname: Ravaglia
authors.forename: Enrico Colli
authors.initials: EC
authors.lastname: Tibaldi
authors.forename: Francesco
authors.initials: F
authors.lastname: D'Amore
authors.forename: Germán
authors.initials: G
authors.lastname: Morís
authors.forename: Nuria
authors.initials: N
authors.lastname: Muelas
authors.forename: Juan J
authors.initials: JJ
authors.lastname: Vílchez
authors.forename: Ana
authors.initials: A
authors.lastname: García-Medina
authors.forename: Mercedes
authors.initials: M
authors.lastname: Usón
authors.forename: Francisco A
authors.initials: FA
authors.lastname: Martínez García
authors.forename: Isabel
authors.initials: I
authors.lastname: Illa
authors.forename: Anna
authors.initials: A
authors.lastname: Pichiecchio
mesh_terms: D000328:Adult; D000368:Aged; D018450:Disease Progression; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000145:classification / Q000175:diagnosis*; D006801:Humans; D007091:Image Processing, Computer-Assisted; D008137:Longitudinal Studies; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000000981:diagnostic imaging / Q000473:pathology*; D011859:Radiography; D015898:Tomography Scanners, X-Ray Computed; D060726:Torso / Q000000981:diagnostic imaging / Q000473:pathology*; D055815:Young Adult