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Table 1 Adult-onset patients

From: The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients

Patient ID Onset, diagnosis (Age; y) ERT start (Age; y) Biopsy site; time on ERT (y) Pathology/% fibers with lipofuscin inclusions Clinical status (Current age)
D4 27, 39 61 Forearm; 5-6 Mild lysosomal expansion in 2-4% of fibers; autophagic accumulation and inclusions in < 5% of fibers Decreased strength; relies on wheelchair; can take a few steps (67 y)
D7 35, 61 62 VL; pre-treatment Moderate lysosomal expansion in most fibers; autophagic accumulation and inclusions in ~33% of fibers Relies on BIPAP at night; limited capacity for physical activity; independently ambulatory (62 y)
D8 35, 47 52 VL; 6* Mild lysosomal expansion; autophagic accumulation and inclusions in ~42% of fibers Relies on BiPAP; difficulty with stairs and getting out of the car and off the floor; relies on walker (58 y)
D9 10, 35 41 VL; 6-7 Mild-to-moderate lysosomal expansion in almost every fiber; autophagic accumulation in ~44% of fibers (20% with inclusions) CPAP for sleep apnea; ambulatory with cane and walker (48 y)
D10 51 or 52, 54 54 VL; 5 Autophagic accumulation in ~19% of fibers; ~5% of fibers are destroyed**; inclusions are in <1% of fibers Ambulatory with cane; difficulty with stairs and getting out of the car and off the floor (59 y)
D12 48, 62 63 VL; 2 Mild lysosomal expansion; most fibers are normal; autophagic accumulation and inclusions are in < 5% of fibers Uses BiPAP at night; ambulatory (65 y)
D13 43, 43 46 VL; 2 Normal biopsy Trunk weakness, lower back pain; ambulatory (48 y)
D14 51, 52 57 VL; 5 Moderate lysosomal expansion; autophagic accumulation and inclusions in ~30% of fibers Uses walker periodically (62 y)
D15 22, 41 N/A VL; 7 Mild-to-moderate lysosomal expansion; autophagic accumulation in ~46% of fibers (14% with inclusions) Proximal weakness in upper and lower limbs; ambulatory with cane; relies on BiPAP; severe respiratory insufficiency (49 y)
D16 mid teens, 17 28 VL; 7 Mild lysosomal expansion; autophagic accumulation in ~16% of fibers; inclusions are in < 5% of fibers Proximal weakness in upper and lower limbs; uses BiPAP at night; falls; difficulty climbing stairs (35 y)
D17 late 20s, 55 55 VL; 4 Autophagic accumulation with inclusions in ~20% of fibers Proximal weakness in upper and lower limbs; ambulatory with cane or scooter; relies on BiPAP (59 y)
D19 39, 45 56 VL; 5 Autophagic accumulation with inclusions in ~25% of fibers Weakness of the hip extensors and hip abductors; independently ambulatory; difficulty getting up from supine position (61 y)
  1. *Increased dose to 30 mg/kg since 12/2011.
  2. D12 and D13 are siblings and D8 and D9 are siblings.
  3. Vastus Lateralis.
  4. **the fibers lacking recognizable myofibrillar structures are classified as “destroyed”.