title: Orthopedic management of patients with Pompe disease: a retrospective case series of 8 patients.
abstract: BACKGROUND
  Pompe disease (PD), a lysosomal storage disease as well as a neuromuscular disorder, is a rare disease marked by progressive muscle weakness. Enzyme replacement therapy (ERT) in recent years allowed longer survival but brought new problems to the treatment of PD with increasing affection of the musculoskeletal system, particularly with a significantly higher prevalence of scoliosis. The present paper deals with the orthopedic problems in patients with PD and is the first to describe surgical treatment of scoliosis in PD patients.
  
  
  METHODS
  The orthopedic problems and treatment of eight patients with PD from orthopedic consultation for neuromuscular disorders are retrospectively presented. We analyzed the problems of scoliosis, hip dysplasia, feet deformities, and contractures and presented the orthopedic treatment options.
  
  
  RESULTS
  Six of our eight PD patients had scoliosis and two young patients were treated by operative spine stabilization with benefits for posture and sitting ability. Hip joint surgery, operative contracture release, and feet deformity correction were performed with benefits for independent activity.
  
  
  CONCLUSIONS
  Orthopedic management gains importance due to extended survival and musculoskeletal involvement under ERT. Surgical treatment is indicated in distinct cases. Further investigation is required to evidence the effect of surgical spine stabilization in PD.
authors: Department of Orthopedic Surgery, Friedrich-Alexander-University Erlangen-Nuremberg, Rathsberger Straße 57, 91054 Erlangen, Germany.
authors: Gerrit
authors: 0000-0003-4177-411X
authors: G
authors: Haaker
authors: Department of Orthopedic Surgery, Friedrich-Alexander-University Erlangen-Nuremberg, Rathsberger Straße 57, 91054 Erlangen, Germany.
authors: Jürgen
authors: J
authors: Forst
authors: Department of Orthopedic Surgery, Friedrich-Alexander-University Erlangen-Nuremberg, Rathsberger Straße 57, 91054 Erlangen, Germany.
authors: Raimund
authors: R
authors: Forst
authors: Department of Orthopedic Surgery, Friedrich-Alexander-University Erlangen-Nuremberg, Rathsberger Straße 57, 91054 Erlangen, Germany.
authors: Albert
authors: 0000-0002-0129-6320
authors: A
authors: Fujak
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D050723:Fractures, Bone / Q000000981:diagnostic imaging / Q000209:etiology / Q000601:surgery; D006009:Glycogen Storage Disease Type II / Q000150:complications*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009140:Musculoskeletal Diseases / Q000175:diagnosis / Q000209:etiology* / Q000601:surgery*; D019637:Orthopedic Procedures; D011859:Radiography; D012600:Scoliosis / Q000000981:diagnostic imaging / Q000209:etiology / Q000601:surgery; D016896:Treatment Outcome; D055815:Young Adult