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) |
*Increased dose to 30 mg/kg since 12/2011.
†D12 and D13 are siblings and D8 and D9 are siblings.
‡Vastus Lateralis.
**the fibers lacking recognizable myofibrillar structures are classified as “destroyed”.