Table 2.
Clinical features
| Patient | Family | Age onset | Sex | Age at last examination | Perinatal problems | Delayed motor milestones | Ocular involvement | Muscle weakness | Other clinical features | Respiratory involvement | Spine deformities | Contractures | Dysmorphism |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| p1 | f1 | B | m | 45 ds | H; FP; RI | NW | Pt + Oph | G++, | - | +++ | - | - | |
| p2 | f2 | 2 ys | m | 30 ys | n.r. | yes | Oph | G, F, SW | - | ++ | - | CFee | LNF; HAP |
| p3 | f3 | B | m | 21 ys | RD | no | Pt + Oph | d>p LL, d/p UL | - | - | - | AcR | LNF; PrG |
| p4 | f4 | B | f | 12 ws | H; FP; RI | yes | no | G, F, | - | +++ | Sc | H; Kn | - |
| p5 | f5 | B | f | 1 ys | H; FP; RI, Art | yes | Pt | F, pUL/LL, | - | ++ | - | - | RtG |
| p6 | f6 | B | f | 16 ys | FP | yes | no | F, A, pUL/LL, dUL, | Dph | - | - | - | LNF; HAP; |
| p7 | f7 | 60 ys | m | 76 ys | no | no | Oph | F, A, pUL, dUL>LL, | Dph | - | - | - | - |
| p8 | f8 | 2 ys | f | 27 ys | no | yes | no | G, F | EI | + | Sc, Ld | - | HAP, RtG, |
| p9 | f9 | A | m | 7 ys | O | yes | Pt + Oph | F, A, pUL/LL | Dph, CH | - | - | pUL HypL | PctE |
| p10 | f10 | B | f | 34y | n.r. | n.r. | Oph (UG only) | G, F, | SW | ++ | Sc; Ld; SpB | AcR; H; Kn HypL; | - |
| p11 | f11 | B | m | 48y | FP | n.r. | Pt + Oph | G, F, | - | + | Sc | - | LNF; HAP |
| p12 | f12 | B | f | 4 ys | H; RI | yes | Pt + Oph | G, F, | PP | ++ | yes? | AcR; H, Kn; | HAP |
| p13 | f13 | B | f | 29 ys | H | n.r. | Pt + Oph | G, F, | Dph | - | - | - | LNF |
| p14 | f14 | B | f | 10 ys | H; FP, HD | yes | n.r. | pLL | Gowers | - | - | - | - |
| p15 | f14 | B | f | 3 ys | H; FP, HD | yes | n.r. | pLL | - | - | - | - | - |
| p16 | f15 | 10 ys | f | 69 ys | no | no | no | p/ dLL | Gowers | - | - | AcR | - |
| p17 | f16 | 6 mo | f | 34 ys | no | yes | no | A, pUL, | CH | + | Ld; Sc | - | - |
| p18 | f17 | 20 ys | f | 26 ys | n.r. | yes | no | F, A, p/d LL | EI | - | no | - | - |
| p19 | f18 | 1 ys | m | 4ys | no | yes | Pt | F, A, pLL | - | - | - | - | - |
| p20 | f19 | B | m | 25 ys | H; | yes | Oph | G, F | Dph | ++ | - | TFL; H; Kn; T-M | LNF; HAP |
| p21 | F20 | 1 yr | f | 5 ys | no | yes | no | F, pLL>UL | - | - | no | G HypL | No |
| p22 | f21 | A | f | 25 ys | no | yes | Oph | A, pLL>UL, dUL/LL, | Dpg; Dph | +++ | Ld | RSs; finger ext; Eb; AcR | LNF; HAP |
| p23 | f22 | 1 ys | m | 8 ys | no | yes | no | F, pUL/LL | - | - | Ld | - | - |
| p24 | f23 | A | m | 6 ys | PO, FAS | NW | Pt + Oph | G, F | CD | - | - | G | - |
| p25 | f24 | 1 ys | m | 43 ys | no | yes | Oph (UG only) | F, pUL/LL, dUL | - | - | - | Kn | - |
| p26 | f25 | 10 ys | f | 32 ys | no | no | no | F, A, pUL/LL | Gowers | - | no | - | - |
| p27 | f26 | 6 ys | f | 16 ys | no | no | n.r. | A | - | - | Ky | - | - |
| p28 | f27 | 1 ys | f | 8 ys | no | no | n.r. | pLL | t-tW; Gowers | - | Ld; Sc | AcR; Pes cavus | - |
| p29 | f28 | 1 ys | m | 23 ys | no | yes | no | A, pLL>UL | - | - | - | AcR | - |
| p30 | f29 | 1 ys | f | 5 ys | no | yes | no | A, pUL/LL, | - | ++ | Ld | AcR | - |
| p31 | f30 | B | m | n.r. | H; FP; Art | NW | Pt + Oph | G, F, | - | +++ | yes | Kn; Eb; H; distal HypL | - |
| p32 | f31 | 45 ys | m | 52 ys | no | no | no | pLL | CH | - | - | - | no |
| p33 | f32 | 8 ys | f | 49 ys | no | yes | no | F, A, pLL/UL | - | - | Sc | - | no |
| p34 | f33 | B | m | 5 ys | HD | yes | n.r. | pLL | Gowers | - | Ld | AcR | - |
| p35 | f34 | 8 ys | m | 37 ys | no | n.r. | no | A, pUL/LL, dLL, | Dph, t-tW | + | Sc | - | - |
| p36 | f35 | 66 ys | f | 76 ys | no | no | no | A, pLL | - | - | - | - | no |
| p37 | f36 | 10 ys | f | 62 ys | no | n.r. | n.r. | pLL/UL, dUL | - | - | - | - | - |
| p38 | f37 | 5 ys | f | 21 ys | no | no | no | F, pUL/LL | - | - | - | - | - |
| p39 | f38 | 8 ys | f | 63 ys | no | no | no | A, pLL>UL, dUL, | - | - | - | - | - |
| p40 | f39 | B | f | 26 ys | H; FP, HD, CFee | yes | n.r. | A, pUL/LL, | - | + | Sc | AcR | - |
| p41 | f40 | 8 ys | m | 33 ys | no | n.r. | n.r. | pUL/LL | SW | - | - | AcR | - |
| p42 | f41 | 1 ys | m | 13 ys | n.r. | n.r. | no | A, pLL | - | - | Ld | - | - |
| p43 | f42 | A | f | 1 d | Art, (death 1 day) | NW | n.r. | G, | LH | +++ | - | Art | - |
| p44 | f43 | B | m | 3 ys | FP | no | Pt | G | Gowers | - | - | distal and Eb HypL | HAP |
| p45 | f44 | 1 ys | f | 15 ys | Art | yes | Pt + Oph | A, pUL/LL | CH | - | Ld; Sc | - | - |
| p46 | F37 | B | f | 42 ys | H | yes | Oph | G, F, | - | + | - | T-M; distal HypL | HAP |
| p47 | F37 | 3 ys | f | 4 ys | no | no | n.r. | pUL/LL | - | - | - | - | - |
| p48 | f45 | B | m | 19 ys | H | yes | Pt | G, F, | HL | +++ | Sc | CFee | - |
B At birth, A Antenatal, H Hypotonia, RI Respiratory insufficiency, FP Feeding problems, O Oligohydramnios, PO Polyhydramnios, FAS Fetal akinesia syndrome, NW Never walk, Art Arthrogryposis, HD Hip dysplasia, Pt Eyelid ptosis, Oph Ophthalmoplegia, UG Upper gaze, G Generalized, SW Scapular winging, d Distal, p Proximal, UL Upper limbs, LL Lower limbs, F Facial, Ax Axial, Dph Dysphonia, Dpg Dysphagia, EI Exercise intolerance, CH Calf hypertrophy, PP Precocious puberty, CD Cognitive delay, t-tW Tip-toe walking, HL Hearing loss, LH Lung hypoplasia, Sc Scoliosis, Ld Lordosis, Ky Kyphosis, SpB Sspina bifida, AcR Achilles tendon retraction, TFL Tensor fascia lata, T-M Temporo-mandibular, RSs Rigid spine, CFee Club feet, LNF Long narrow face, HAP High arched palate, PrG Prognathism, RtG Retrognathia, PctE Pectus excavatum, HypL Hyperlaxity, Kn Knee, Eb Elbow, n.r. Not reported