Table 1 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) |