title: Bent spine syndrome as the initial symptom of late-onset Pompe disease.
abstract: Late-onset Pompe disease (LOPD) is a rare disorder characterized by progressive proximal muscle weakness and early respiratory insufficiency, for which enzyme replacement therapy (ERT) is available.
  
  
  
  Having diagnosed a case of LOPD presenting with bent spine syndrome, we conducted a brief survey in the French centers involved in management of Pompe disease, from which we collected data on 3 other cases.
  
  
  
  The patients (3 women and 1 man) had a mean age of 64 years (range 51-77 years) and a delay in diagnosis of approximately 10 years (range 8-42 years). At diagnosis, 3 patients already had respiratory symptoms. All had normal or very mildly raised creatine kinase levels and magnetic resonance imaging abnormalities in the paraspinal muscles. They exhibited the most frequent mutation in Pompe disease (c.-32-13 T>G).
  
  
  
  Clinicians should be aware of this atypical presentation of LOPD to enable earlier diagnosis and treatment. Muscle Nerve 56: 167-170, 2017.
authors.affiliation: Rhumatologie, Hôpital Roger Salengro, Université de Lille 2, Centre Hospitalier Régional Universitaire de Lille, Lille, France.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Taisne
authors.affiliation: Syst'me nerveux périphérique, muscle et SLA, Hopital Pasteur 2, CHU de Nice, Nice, France.
authors.forename: Claude
authors.initials: C
authors.lastname: Desnuelle
authors.affiliation: Hôpital Gui-de-Chauliac, service de neurologie, clinique du motoneurone, Inserm 1051, 34925, Montpellier, France.
authors.forename: Raul
authors.initials: R
authors.lastname: Juntas Morales
authors.affiliation: Neurologie, Hôpital Pellegrin, CHU Bordeaux, Bordeaux, France.
authors.forename: Xavier
authors.initials: X
authors.lastname: Ferrer Monasterio
authors.affiliation: Syst'me nerveux périphérique, muscle et SLA, Hopital Pasteur 2, CHU de Nice, Nice, France.
authors.forename: Sabrina
authors.initials: S
authors.lastname: Sacconi
authors.affiliation: Neurologie, Hôpital Pellegrin, CHU Bordeaux, Bordeaux, France.
authors.forename: Fanny
authors.initials: F
authors.lastname: Duval
authors.affiliation: Neurologie, Hôpital Pellegrin, CHU Bordeaux, Bordeaux, France.
authors.forename: Guilhem
authors.initials: G
authors.lastname: Sole
authors.affiliation: Rhumatologie, Hôpital Roger Salengro, Université de Lille 2, Centre Hospitalier Régional Universitaire de Lille, Lille, France.
authors.forename: René Marc
authors.initials: RM
authors.lastname: Flipo
authors.affiliation: Universitaire Lille, CHU Lille, Clinique Neurologique, Centre de référence maladies rares d'origine neuro-musculaire, Lille, France.
authors.forename: Arnaud
authors.initials: A
authors.lastname: Lacour
authors.affiliation: Universitaire Lille, CHU Lille, Clinique Neurologique, Centre de référence maladies rares d'origine neuro-musculaire, Lille, France.
authors.forename: Patrick
authors.initials: P
authors.lastname: Vermersch
authors.affiliation: Rhumatologie, Hôpital Roger Salengro, Université de Lille 2, Centre Hospitalier Régional Universitaire de Lille, Lille, France.
authors.forename: Thierry
authors.initials: T
authors.lastname: Cardon
mesh_terms: D000368:Aged; D042241:Early Diagnosis; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000503:physiopathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis* / Q000000981:diagnostic imaging; D013121:Spinal Curvatures / Q000175:diagnosis* / Q000000981:diagnostic imaging
keywords: acid maltase deficiency; bent spine syndrome; camptocormia; glycogenosis type 2; late-onset Pompe disease