title: Pompe disease, the must-not-miss diagnosis: A report of 3 patients.
abstract: BACKGROUND
  Pompe disease is a progressive and debilitating neuromuscular disorder that presents with a heterogeneous array of signs and symptoms including proximal muscle weakness, respiratory insufficiency, and/or elevated creatine kinase levels. It mimics other neuromuscular disorders, making its diagnosis challenging and often significantly delayed, thereby increasing morbidity and early mortality of the disease.
  
  
  METHODS
  Three Pompe disease patients are discussed to highlight the challenging path to diagnosis and the common cluster of symptoms that could lead to timely and accurate diagnosis.
  
  
  RESULTS
  After significant delays in diagnosis, Pompe disease was diagnosed on the basis of the pattern of proximal weakness.
  
  
  CONCLUSIONS
  Suspicion and recognition of the characteristic symptoms of Pompe disease may improve both the timing and accuracy of the diagnosis, which will improve clinical outcomes and minimize disease progression.
authors: Department of Neurology, Neuromuscular Diseases Unit, Favaloro Foundation, Institute of Neurosciences, Rivadavia 4951-1405, Buenos Aires, Argentina. dubro@fibertel.com.ar
authors: Alberto
authors: A
authors: Dubrovsky
authors: Jose
authors: J
authors: Corderi
authors: Theodora
authors: T
authors: Karasarides
authors: Ana Lia
authors: AL
authors: Taratuto
mesh_terms: D000328:Adult; D000368:Aged; D057210:Delayed Diagnosis / Q000517:prevention & control; D003937:Diagnosis, Differential; D056947:Enzyme Replacement Therapy; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy; D006801:Humans; D008297:Male; D008875:Middle Aged; D018908:Muscle Weakness / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology; D009468:Neuromuscular Diseases / Q000175:diagnosis*; D012131:Respiratory Insufficiency / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology; D000520:alpha-Glucosidases / Q000627:therapeutic use
chemical_list: C509951:GAA protein, human; D000520:alpha-Glucosidases