D3*
|
5 mo
|
1 y, 4 mo
|
VL†; 3 y, 10 mo
|
Mild-to-moderate lysosomal expansion in most fibers; autophagic accumulation with inclusions in ~88% of fibers
|
Relies on powerchair; feeds orally; surgery for chronic right hip dislocation and left hip subluxation; no pulmonary compromise (5 y)
|
1 y, 3 mo
|
CLINM
|
13 y¶
|
13.6 y
|
Quad; 8 mo
|
Normal biopsy
|
Frequent low back pain; no difficulties in college gym classes (18.8 y)
|
|
13.5 y
| | | | |
HM1
|
4 mo‡
|
3 y
|
Quad; 6 y
|
Prominent lysosomal expansion in ~30% of fibers; atrophy; autophagic accumulation with Inclusions in ~77% of fibers; ~15% of fibers are completely destroyed
|
Wheelchair bound; respiratory failure; uses BiPAP at night; underwent several rounds of ITI due to high titer antibodies; progressive motor deterioration since 6 years of age (11 y)
|
4 mo
|
HM3
|
7 mo‡
|
10 y
|
Quad; 6 y
|
Most fibers completely destroyed; extensive damage obscures underlying pathology
|
Severe progressive lower limb muscle weakness; difficulty in walking and climbing stairs; non-compliance to ERT: stopped therapy for 6 months at age 14 y (18 y)
|
7 mo
|
HM5
|
5 y
|
6.5 y
|
Quad; 7 y
|
~ 80% of fibers completely destroyed, autophagic accumulation with inclusions in the remaining fibers
|
Motor deterioration; difficulty in walking and climbing stairs; uses BiPAP at night; respiratory failure; (14.5 y)
|
~5 y
|
NBSL9a§
|
6.5 y
|
7 y
|
Quad; baseline
|
Mild-to-moderate lysosomal expansion; inclusions in almost every fiber
|
Less endurance (10.7 y)
|
|
6.5 y
| | | | |