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

Xie, Zhiying; Hou, Yue; Yu, Meng; Liu, Yilin; Fan, Yanbin; Zhang, Wei; Wang, Zhaoxia; Xiong, Hui; Yuan, Yun

doi:10.1186/s13023-019-1021-9

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 ability^a	Distribution of weakness	Motor signs and symptoms				Disease severity^b
Patients	LGMD subtype	Age, years/sex	Age at onset, years	Disease duration, years	Symptom(s) at onset	CK (IU/L)	Walking ability^a	Distribution of weakness	Calf hypertrophy	Tendon contractures	Scapular winging	Muscle pain	Disease severity^b
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

^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

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