Table 1.
Clinical and laboratory features of genetically-confirmed FSHD participants (probands and relatives), showing male, female and combined sex data.
| A. Genetically confirmed FSHD1 (symptomatic, asymptomatic and nonpenetrant) (N = 92) | B. Genetically confirmed FSHD2 (symptomatic, asymptomatic and nonpenetrant) (N = 7) | C. Genetically confirmed in cis duplication FSHD (N = 2) | |||||||
|---|---|---|---|---|---|---|---|---|---|
| Female | Male | Overall | Female | Male | Overall | Female | Male | Overall | |
| Total | 31 (34%) | 61 (66%) | 92 | 1 (14%) | 6 (86%) | 7 | 1 (50%) | 1 (50%) | 2 |
| Proband | 9 | 43 | 52 | 0 | 5 | 5 | 1 | 1 | 2 |
| Affected relatives | 22 | 18 | 40 | 1 | 1 | 2 | 0 | 0 | 0 |
| Age at examination (yrs): median (range) | 28 (9–55) | 22 (11–57) | 23 (9–57) | 35 | 21.5 (18–60) | 24 (18–60) | 27 | 20 | 23.5 (20,27) |
| Consanguineous marriage | 0 | 4 | 4/92 (4%) | 0 | 0 | 0 | 0 | 0 | 0 |
| Family History | 7 probands | 25 probands | 32/92 (34%) | 0 probands | 1 proband | 1/7 (14%) | 0 | 0 | 0 |
| Age of onset of first symptom - median (range) | 16 (3–51) | 15 (0–37) | 16 (0–51) | N/A | 21.5 (10–52) | 21.5 (10–52) | 11 | 17 | 14 (11,17) |
| Age of Diagnosis; median (range) | 28 (9–55) | 22 (10–51) | 25.5 (9–55) | 35 | 21.5 (18–60) | 24 (18–60) | 27 | 20 | 23.5 (20–27) |
| Age of onset of diminished ability; median (range) | 17 (8–51) | 15 (7–37) | 17 (7–51) | N/A | 22 (12–55) | 22 (12–55) | 20 | 17 | 18.5(17,20) |
| First symptom | Female | Male | Overall | Female | Male | Overall | Female | Male | Overall |
| Facial muscle weakness | 5/31 (16%) | 4/61 (7%) | 9/92 (10%) | 0 | 1/6 (17%) | 1/7 (14%) | 0 | 0 | 0 |
| Proximal muscle weakness in upper limbs | 6/31 (19%) | 35/61 (57%) | 41/92 (45%) | 0 | 4/6 (67%) | 4/7 (57%) | 1/1 (100%) | 0 | 1/2 (50%) |
| Proximal muscle weakness in lower limbs | 3/31 (10%) | 4/61 (7%) | 7/92 (8%) | 0 | 0 | 0 | 0 | 1/1 (100%) | 1/2 (50%) |
| Scapular winging | 0 | 2/61 (3%) | 2/92 (2%) | 0 | 0 | 0 | 0 | 0 | 0 |
| Distal weakness in upper limb | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| Foot Dorsiflexor weakness | 0 | 3/61 (5%) | 3/92 (3%) | 0 | 0 | 0 | 0 | 0 | 0 |
| Hearing/Vision abnormality | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| Developmental delay | 0 | 1/61 (2%) | 1/92 (1%) | 0 | 0 | 0 | 0 | 0 | 0 |
| Asymptomatic/Non penetrant | 17/31 (55%) | 12/61 (20%) | 29/92 (32%) | 1 | 1/6 (17%) | 2/7 (29%) | 0 | 0 | 0 |
| Clinical features | Female | Male | Overall | Female | Male | Overall | Female | Male | Overall |
| Facial muscle weakness | 25/31 (81%) | 58/61 (95%) | 83/92 (90%) | 0 | 5/6 (83%) | 5/7 (71%) | 1/1 (100%) | 0 | 1/2 (50%) |
| Proximal muscle weakness in upper limbs | 17/31 (55%) | 47/61 (77%) | 64/92 (70%) | 0 | 6/6 (100%) | 6/7 (86%) | 1/1 (100%) | 1/1 (100%) | 2/2 (100%) |
| Proximal muscle weakness in lower limbs | 8/31 (25%) | 26/61 (43%) | 34/92 (37%) | 0 | 3/6 (50%) | 3/7 (43%) | 1/1 (100%) | 1/1 (100%) | 2/2 (100%) |
| Scapular winging | 22/31 (71%) | 54/61 (89%) | 76/92 (83%) | 0 | 6/6 (100%) | 6/7 (86%) | 1/1 (100%) | 0 | 1/2 (50%) |
| Distal LL muscle weakness | 3/31 (10%) | 15/61 (25%) | 18/92 (20%) | 0 | 2/6 (33%) | 2/7 (29%) | 0 | 0 | 0 |
| Distal UL muscle weakness | 1/31 (3%) | 12/61 (20%) | 13/92 (14%) | 0 | 2/6 (33%) | 2/7 (29%) | 0 | 0 | 0 |
| Lordosis/Scoliosis | 6/31 (19%) | 25/61 (41%) | 31/92 (34%) | 0 | 3/6 (50%) | 3/7 (43%) | 0 | 0 | 0 |
| Beevor | 7/31 (23%) | 35/61 (57%) | 42/92 (46%) | 0 | 5/6 (83%) | 5/7 (71%) | 0 | 1/1 (100%) | 1/2 (50%) |
| Hearing/vision abnormality | 0 | 1/61 (2%) | 1/92 (1%) | 0 | 0 | 0 | 0 | 0 | 0 |
| Quadriceps muscle weakness | 1/31 (3%) | 9/61 (15%) | 10/92 (11%) | 0 | 0 | 0 | 0 | 0 | 0 |
| Shoulder pain | 10/31 (32%) | 29/61 (48%) | 39/92 (42%) | 0 | 5/6 (83%) | 5/7 (71%) | 1/1 (100%) | 0 | 1/2 (50%) |
| Diabetes Mellitus | 0 | 1/61 (2%) | 1/92 (1%) | 0 | 0 | 0 | 0 | 0 | 0 |
| Distal Hyperlaxity | 1/31 (3%) | 2/61 (3%) | 3/92 (3%) | 0 | 0 | 0 | 0 | 0 | 0 |
| Pectus excavatum | 0 | 4/61 (7%) | 4/92 (4%) | 0 | 0 | 0 | 0 | 0 | 0 |
| Popeye arm | 0 | 11/61 (18%) | 11/92 (12%) | 0 | 0 | 0 | 0 | 0 | 0 |
| Other neurological and systemic involvement | 0 | 1/61 (2%) | 1/92 (1%) | 0 | 0 | 0 | 0 | 0 | 0 |
| Muscle Biopsy | 3/31 (10%) | 4/61 (7%) | 7/92 (8%) | 0 | 0 | 0 | O | 1/1 (100%) | 1/2 (50%) |
| Muscle MRI | 6/31 (19%) | 13/61 (21%) | 19/92 (21%) | 0 | 3/6 (50%) | 3/7 (43%) | 0 | 0 | 0 |
| CK U/L | 198 (20–418) | 486 (46–1288) | 417 (20–1288) | N/A | 417 (209–1214) | 417 (209–1214) | 519 | 2890 | 1705 (519,2890) |
| CK 500–1000 U/L | 0 | 14/61 (23%) | 14/92 (15%) | 0 | 0 | 0 | 1/1 (100%) | 0 | 1/2 (50%) |
| CK > 1000 U/L | 0 | 4/61 (7%) | 4/92 (4%) | 0 | 1/6 (17%) | 1/7 (14%) | 0 | 1/1 (100%) | 1/2 (50%) |
| Severity Scores: Median (range) | Female | Male | Overall | Female | Male | Overall | Female | Male | Overall |
| Total MRC sum score (0–70) | 68.5 (48–70) | 60.5 (43–70) | 62 (43–70) | 70 | 58 (47–62) | 59 (47–70) | 54 | 52 | 53 (52,54) |
| Clinical severity Scale (CSS; 0–5) | 1.5 (0–4) | 2 (0–4.5) | 2 (0–4.5) | 0 | 0.5 (1.5–4.5) | 0.5 (0–4.5) | 3 | 3 | 3 |
| Age corrected CSS | 118 (0–800) | 167 (0–538) | 163 (0–800) | 0 | 216 (58–421) | 216 (0–421) | 222 | 222 | 222 |
| FSHD clinical score (0–15) | 3 (0–12) | 7 (3–13) | 5.5 (0–13) | 0 | 7.5 (5–13) | 7.5 (0–13) | 7 | 7 | 7 |
Eight mosaic participants are excluded from comparisons due to variable penetrance impacting clinical measures (see text). 1 A summarises FSHD1 participants, 1B FSHD2 participants and 1 C in cis duplication participants.
N/A not applicable.