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Table 1 Clinical features in patients with sarcoglycanopathies

From: Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients

Patients LGMD subtype Age, years/sex Age at onset, years Disease duration, years Symptom(s) at onset CK (IU/L) Walking abilitya Distribution of weakness Motor signs and symptoms Disease severityb
Calf hypertrophy Tendon contractures Scapular winging Muscle pain
P1 LGMD2D + CMT1A 9.9/M 2 7.9 delayed motor milestones 18,559 3 Proximal + + 3
P2 LGMD2D 8.8/M 6 2.8 post-exercise muscle pain 8000 1 None + + 1
P3 LGMD2D 16.2/M 2 14.2 frequent falls 345 5 Generalized + + 4
P4 LGMD2D 9.2/F 5 4.2 difficulties in running 10,300 2 Proximal + 2
P5 LGMD2D 27.4/F 11 16.4 proximal lower limb weakness 763 5 Generalized 4
P6 LGMD2D 10.3/F 2 8.3 exercise intolerance 17,690 3 Proximal + + 3
P7 LGMD2D 4.6/M 3.9 0.7 asymptomatic hyperCKemia 6069 1 None 1
P8 LGMD2D 13.5/M 10.5 3 post-exercise muscle pain 1770.7 1 None + 1
P9 LGMD2D 7.4/M 2 5.4 difficulties in running and jumping 8000 2 Proximal 3
P10 LGMD2D 11.8/F 9.8 2 difficulties in running and climbing stairs 5355 2 Proximal + 3
P11 LGMD2D 7.2/F 2.2 5 difficulties in jumping and climbing stairs 12,400 2 Proximal 2
P12 LGMD2D 7.7/M 3.7 4 post-exercise muscle pain 8560 1 None + + 1
P13 LGMD2D 9.6/M 7 2.6 proximal lower limb weakness 13,814 3 Proximal + + 3
P14 LGMD2D 8.8/M 2 6.8 post-exercise muscle pain 2650 1 None + + 1
P15 LGMD2D 9/M 1 8 difficulties in climbing stairs 10,347 2 Proximal + 3
P16 LGMD2D 23.5/F 11 12.5 difficulties in running and climbing stairs 2184 4 Generalized + 4
P17 LGMD2D 25.5/F 10 15.5 post-exercise muscle pain 400 1 None + 1
P18 LGMD2D 12.2/F 8.2 4 abnormal gait 3950 3 Generalized + + + 4
P19 LGMD2E 12/M 3 9 early fatigue 8022 3 Proximal + + 3
P20 LGMD2E 14.4/M 9.5 4.9 myalgias and exercise intolerance 10,000 2 Proximal + + + 2
P21 LGMD2E 9.1/F 8 1.1 proximal lower limb weakness 7873 2 Proximal 2
P22 LGMD2E 3.2/M 0.8 2.4 asymptomatic hyperCKemia 35,120 2 None + 1
P23 LGMD2E 12.9/M 2 10.9 delayed motor milestones 2247 4 Generalized 4
P24 LGMD2E 10.7/M 5 5.7 abnormal gait 10,085 2 Proximal + + 2
P25 LGMD2C 29/F 7.5 21.5 frequent falls 842 5 Generalized + + 4
  1. a, Walking ability was scored as follows [4]: 1, asymptomatic hyperCKemia with or without exercise-induced myalgia; 2, running with difficulties; 3, unable to run; 4, ambulant with support; 5, non-ambulant. b, Disease severity was determined by hierarchical analysis (Fig. 1b): 1, hyperCKemia without muscle weakness; 2, hyperCKemia with mild muscle weakness; 3, hyperCKemia with intermediate muscle weakness; 4, hyperCKemia with severe muscle weakness. LGMD, limb-girdle muscular dystrophy; CMT1A, Charcot-Marie-Tooth 1A; F, female; M, male; CK, creatine kinase