Pompe Disease

Pompe disease is classified as a lysosomal storage disease, a glycogen storage disease, and a muscle disease and is also known as Acid Maltase Deficiency or Glycogen Storage Disease Type II (GSDII). It is a rare, autosomal recessive inherited disorder, characterized by deficiency of the enzyme acid  glucosidase, which leads to excessive intralysosomal glycogen accumulation leading to muscle deterioration. Early onset or infantile Pompe disease produces symptoms in the first year of life, including feeding problems, respiratory difficulties, cardiomegaly (an enlarged heart), poor weight gain, and muscle weakness. Late onset or juvenile/adult Pompe disease produces symptoms between the first decade and much later in life, including muscle weakness and respiratory compromise. The inpatient and outpatient pediatric physical and occupational therapists at Duke are experienced with working with individuals with Pompe disease to optimize function. The therapists work with the infant, child, or adult to optimize muscle function, prevent secondary impairments such as contracture, deformity, and osteopenia/osteoporosis, and optimize function. In collaboration with the individual’s family and medical team a comprehensive plan of care can be developed to optimize function and maximize independence.

PT Treatment

  • Gentle Strengthening
  • Cardiorespiratory monitoring and assistance with airway clearance
  • Positioning and alignment
  • Muscle Stretching
  • Adaptive Equipment Recommendations
  • Orthotic Intervention
  • Gross Motor Facilitation

OT Treatment

  • Gentle Strengthening
  • Muscle Stretching
  • Fine Motor Facilitation
  • Orthotic Intervention
  • Adaptive Equipment Recommendations

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