|
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)
|
