Table 1.
Cohort Characteristics
| Patient Characteristics | Hypoglycemia-related Characteristics | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Patient ID | Age at Survey (y) | Age at Diagnosis (y) | Diagnosis | Ambulation status | FVC % pred (age) | Age of 1st episode of hypoglycemia (y) | Caregiver estimate of # of lifetime hypoglycemic episodes | # of hospital encounters reviewed | Age of most recent hypoglycemic episode (y) | History of FTT | Supplemental Nutrition | BMI percentileb | |
| ID 1 | 7 | 0 | LAMA2-RD | c.2 T > C; c.47delG & muscle biopsy | N | 51% (5y) | 5 | 5–8 | 6 | 6a | Y | – | 74 |
| ID 2 | 6 | 0 | LAMA2-RD | c.7732 C > T & muscle biopsy | N | – | 1 | 16–25 | 2 | 5a | Y | G-Tube, GJ, TPN | – |
| ID 3 | 14 | 1 | LAMA2-RD | c.2538-1G > C & muscle biopsy | N | 86% (13y) | 2 | > 25 | 7 | 14a | Y | G-tube | 82 |
| ID 4 | 14 | 2 | DNM2-RM | c.1102G > A | Y | – | 1 | > 25 | 4 | 3 | N | – | 60 |
| ID 5 | 5 | 2 | LAMA2-RD | c.3976C > T; c.4523 + 1G > A & muscle biopsy | N | – | 4 | < 5 | 4 | 5a | – | – | – |
| ID 6 | 14 | 1 | TTN-RM/ CNM | c.32854 G > C; c.37112-1G > A & muscle biopsy | Y | 44% (12y) | 2 | < 5 | 2 | 7 | Y | G-tube | < 0.1 |
| ID 7 | 7 | 0 | TTN-RM | c.92992A > G; c.19241C > A & muscle biopsy | Y | 104% (8y) | 2 | 5–8 | 5 | 5 | Y | G-tube | 48 |
| ID 8 | 9 | 0 | LAMA2-RD | c.725G > A; c.7572 + 1G > T & muscle biopsy | N | – | 5 | 5–8 | 1 | 8 | N | G-tube | – |
| ID 9 | 17 | 1 | COL6-RD | COL6A3i15/e16;c.6157–9 _c.6177del30 & muscle biopsy | N | 26% (16y) | 7 | < 5 | 1 | 8 | Y | – | 0.2 |
| ID 10 | 10 | 10 | aDG | muscle biopsy | N | – | 4 | < 5 | – | 4 | Y | G-tube | – |
ID identification, y years, Pred Predicted, FVC Forced Vital Capacity on Pulmonary Function Testing, BMI body mass index, RD related dystrophy, RM related myopathy, aDG alpha-dystroglycanopathy, Y Yes, N No, G-tube gastrostomy tube, GJ gastro-jejunostomy tube, TPN total parenteral nutrition, aHypoglycemia episodes ongoing at the time of data collection, bReported closest available to onset of hypoglycemia, − Not available