title: Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function.
abstract: OBJECTIVE
  Enzyme replacement therapy has shown to be effective for childhood/adult onset Pompe disease (AOPD). The discovery of biomarkers useful for monitoring disease progression is one of the priority research topics in Pompe disease. Muscle MRI could be one possible test but the correlation between muscle MRI and muscle strength and function has been only partially addressed so far.
  
  
  METHODS
  We studied 34 AOPD patients using functional scales (Manual Research Council scale, hand held myometry, 6 minutes walking test, timed to up and go test, time to climb up and down 4 steps, time to walk 10 meters and Motor Function Measure 20 Scale), respiratory tests (Forced Vital Capacity seated and lying, Maximun Inspiratory Pressure and Maximum Expiratory Pressure), daily live activities scales (Activlim) and quality of life scales (Short Form-36 and Individualized Neuromuscular Quality of Life questionnaire). We performed a whole body muscle MRI using T1w and 3-point Dixon imaging centered on thighs and lower trunk region.
  
  
  RESULTS
  T1w whole body muscle MRI showed a homogeneous pattern of muscle involvement that could also be found in pre-symptomatic individuals. We found a strong correlation between muscle strength, muscle functional scales and the degree of muscle fatty replacement in muscle MRI analyzed using T1w and 3-point Dixon imaging studies. Moreover, muscle MRI detected mild degree of fatty replacement in paraspinal muscles in pre-symptomatic patients.
  
  
  CONCLUSIONS
  Based on our findings, we consider that muscle MRI correlates with muscle function in patients with AOPD and could be useful for diagnosis and follow-up in pre-symptomatic and symptomatic patients under treatment.
  
  
  CONCLUSIONS
  Muscle MRI correlates with muscle function in patients with AOPD and could be useful to follow-up patients in daily clinic.
authors.affiliation: Neuromuscular Disorders Unit. Neurology Department. Hospital de la Santa Creu i Sant Pau. Universitat Autònoma de Barcelona, Spain.|Centro de Investigación en Red en Enfermedades Raras (CIBERER).
authors.forename: Sebastián
authors.initials: S
authors.lastname: Figueroa-Bonaparte
authors.affiliation: Neuromuscular Disorders Unit. Neurology Department. Hospital de la Santa Creu i Sant Pau. Universitat Autònoma de Barcelona, Spain.|Centro de Investigación en Red en Enfermedades Raras (CIBERER).
authors.forename: Sonia
authors.initials: S
authors.lastname: Segovia
authors.affiliation: Radiology department. Hospital de la Santa Creu i Sant Pau. Universitat Autònoma de Barcelona, Spain.
authors.forename: Jaume
authors.initials: J
authors.lastname: Llauger
authors.affiliation: Rehabilitation and physiotherapy department. Hospital de la Santa Creu i Sant Pau. Universitat Autònoma de Barcelona, Spain.
authors.forename: Izaskun
authors.initials: I
authors.lastname: Belmonte
authors.affiliation: Rehabilitation and physiotherapy department. Hospital de la Santa Creu i Sant Pau. Universitat Autònoma de Barcelona, Spain.
authors.forename: Irene
authors.initials: I
authors.lastname: Pedrosa
authors.affiliation: Neuromuscular Disorders Unit. Neurology Department. Hospital de la Santa Creu i Sant Pau. Universitat Autònoma de Barcelona, Spain.|Centro de Investigación en Red en Enfermedades Raras (CIBERER).
authors.forename: Aída
authors.initials: A
authors.lastname: Alejaldre
authors.affiliation: Respiratory diseases department. Hospital de la Santa Creu i Sant Pau. Barcelona. Universitat Autònoma de Barcelona, Spain.
authors.forename: Mercè
authors.initials: M
authors.lastname: Mayos
authors.affiliation: Respiratory diseases department. Hospital de la Santa Creu i Sant Pau. Barcelona. Universitat Autònoma de Barcelona, Spain.
authors.forename: Guillermo
authors.initials: G
authors.lastname: Suárez-Cuartín
authors.affiliation: Neuromuscular Disorders Unit. Neurology Department. Hospital de la Santa Creu i Sant Pau. Universitat Autònoma de Barcelona, Spain.|Centro de Investigación en Red en Enfermedades Raras (CIBERER).
authors.forename: Eduard
authors.initials: E
authors.lastname: Gallardo
authors.affiliation: Neuromuscular Disorders Unit. Neurology Department. Hospital de la Santa Creu i Sant Pau. Universitat Autònoma de Barcelona, Spain.|Centro de Investigación en Red en Enfermedades Raras (CIBERER).
authors.forename: Isabel
authors.initials: I
authors.lastname: Illa
authors.affiliation: Neuromuscular Disorders Unit. Neurology Department. Hospital de la Santa Creu i Sant Pau. Universitat Autònoma de Barcelona, Spain.|Centro de Investigación en Red en Enfermedades Raras (CIBERER).
authors.forename: Jordi
authors.initials: J
authors.lastname: Díaz-Manera
mesh_terms: D000328:Adult; D000368:Aged; D002648:Child; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000000981:diagnostic imaging* / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D007091:Image Processing, Computer-Assisted; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D053580:Muscle Strength; D009132:Muscles / Q000000981:diagnostic imaging* / Q000503:physiopathology*; D012119:Respiration; D051598:Whole Body Imaging; D055815:Young Adult