Table 2 Atypical infantile-onset and juvenile-onset patients

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

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

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

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

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

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