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Table 2 Clinical features

From: ‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies

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 -
  1. 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