Table 2.
Comparison of clinical and laboratory features of FSHD1 participants carrying 11-3 D4Z4 repeat units versus 4-7 repeat units.
| A. Genetically confirmed FSHD1 probands, excluding mosaic probands (N = 52) | B. Probands and Relatives with genetically-confirmed FSHD1 (1-9U), excluding mosaic carriers (N = 92) | |||
|---|---|---|---|---|
| 1-3U | 4-9U | 1-3U | 4-9U | |
| Proband | 11/11 | 41/41 | 11/12 (92%) | 41/80 (51%) |
| Affected relative | - | - | 1/12 (8%) | 39/80 (49%) |
| Sex: Male (M), Female (F), N (%) |
F = 3/11 (27%) M = 8/11 (73%) |
F = 6/41 (15%) M = 35/41 (85%) |
F = 3/12 (25%) M = 9/12 (75%) |
F = 28/80 (35%) M = 52/80 (65%) |
| Age at examination (yrs): median (range) | 15 (10–29) | 22 (15–57) | 18.5 (10–50) | 24 (9–57) |
| Consanguineous marriage | 1/11 (9%) | 2/41 (5%) | 1/12 (8%) | 5/80 (6%) |
| Family History | 5/11 (45%) | 24/41 (58%) | 6/12 (50%) | 57/80 (71%) |
| Age of onset of first symptom | 10 (3–22) | 16 (7–51) | 10 (3–22) | 16 (7–51) |
| Age of Diagnosis | 15 (10–28) | 22 (13–55) | 18.5 (10–50) | 23 (9–55) |
| Age of onset of diminished ability | 10 (7–22) | 18 (8–51) | 10 (7–22) | 18 (8–51) |
| First ever symptom | 1-3U | 4-9U | 1-3U | 4-9U |
| Facial muscle weakness | 6/11 (55%) | 2/41 (5%) | 6/12 (50%) | 3/80 (4%) |
| Proximal muscle weakness in upper limb | 4/11 (36%) | 30/41 (73%) | 5/12 (42%) | 36/80 (45%) |
| Proximal muscle weakness in lower limb | 0 | 9/41 (22%) | 0 | 9/80 (11%) |
| Scapular winging | 0 | 1/41 (2%) | 0 | 2/80 (3%) |
| Foot dorsiflexor weakness | 0 | 0 | 0 | 1/80 (1%) |
| Asymptomatic | 0 | 12/41 (29%) | 0 | 24/80 (30%) |
| Clinical feature | 1-3U | 4-9U | 1-3U | 4-9U |
| Facial muscle weakness | 8/11 (73%) | 38/41 (93%) | 9/12 (75%) | 69/80 (86%) |
| Proximal muscle weakness in upper limb | 10/11 (91%) | 33/41 (80%) | 11/12 (92%) | 47/80 (59%) |
| Proximal muscle weakness in lower limb | 8/11 (73%) | 23/41 (56%) | 8/12 (67%) | 27/80 (34%) |
| Scapular winging | 9/11 (82%) | 38/41 (93%) | 10/12 (83%) | 64/80 (80%) |
| Distal LL muscle weakness | 2/11 (18%) | 8/41 (20%) | 3/12 (25%) | 10/80 (13%) |
| Distal UL muscle weakness | 3/11 (27%) | 3/41 (7%) | 3/12 (25%) | 3/80 (4%) |
| Lordosis/Scoliosis | 8/11 (73%) | 15/41 (37%) | 9/12 (75%) | 15/80 (19%) |
| Beevor sign | 9/11 (82%) | 22/41 (54%) | 10/12 (83%) | 28/80 (35%) |
| Hearing/vision abnormality | 0 | 0 | 1/12 (8%) | 0 |
| Selective Quadriceps weakness | 5/11 (45%) | 3/41 (7%) | 5/12 (42%) | 3/80 (4%) |
| Shoulder pain | 10/11 (91%) | 13/41 (32%) | 11/12 (92%) | 21/80 (26%) |
| Diabetes Mellitus | 0 | 1/41 (2%) | 0 | 1/80 (1%) |
| Distal Hyperlaxity | 1/11 (9%) | 1/41 (2%) | 1/12 (8%) | 1/80 (1%) |
| Pectus excavatum | 0 | 3/41 (7%) | 0 | 3/80 (4%) |
| Muscle Biopsy | 0 | 6/41 (15%) | 0 | 6/80 (8%) |
| Muscle MRI | 5/11 (45%) | 13/41 (32%) | 5/12 (42%) | 14/80 (18%) |
| CK U/L | 437 (20–1007) | 276 (88–924) | 437 (20–1007) | 407 (46–1288) |
| CK 500–1000 | 3/11 (27%) | 1/41 (2%) | 3/12 (25%) | 11/80 (14%) |
| CK > 1000 | 1/11 (9%) | 0 | 1/12 (8%) | 0 |
| Severity Scores: Median (range) | 1-3U | 4-9U | 1-3U | 4-9U |
| Total MRC sum score (0–70) | 58 (48–63) | 59 (46–69) | 58 (48–63) | 62 (43–70) |
| Clinical severity Scale (CSS;0–5) | 3.5 (1.5–4) | 1.5 (0.5–4) | 3.5 (1.5–4) | 3 (0.5–4.5) |
| Age corrected CSS | 428.5 (130.4–538.4) | 200 (28.5–500) | 396.1 (130.4–538.4) | 142.8 (0–500) |
| FSHD clinical score (0–15) | 9 (5–13) | 6 (1–12) | 9 (5–13) | 5 (0–12) |
Eight mosaic participants are excluded from comparisons due to variable penetrance impacting clinical measures (see text). 2A: data for probands only, 2B: combined data for probands and relatives.
N/A not applicable.