TABLE 3.

Diagnostic and source characteristics of eligible cases from the 2007 to 2011 MD STARnet pilot (n = 2,862)

	Type of muscular dystrophy
	All MDs		CMD		DBMD		Distal		EDMD		FSHD		LGMD		DM		OPMD		MD-NOS
	n = 2,862		n = 86		n = 739		n = 17		n = 22		n = 278		n = 260		n = 943		n = 119		n = 398
Characteristic	n	%	n	%	n	%	n	%	n	%	n	%	n	%	n	%	n	%	n	%
Method of diagnosis
Clinical diagnosis	1,565	54.7	54	62.8	174	23.5	11	64.7	9	40.9	138	49.6	202	77.7	512	54.3	70	58.8	395	99.2
Genetic diagnosis in family	179	6.3	2	2.3	51	6.9	0	0.0	2	9.1	25	9.0	8	3.1	84	8.9	6	5.0	1	0.3
Genetic diagnosis in self	1,118	39.0	30	34.9	514	69.6	6	35.3	11	50.0	115	41.4	50	19.2	347	36.8	43	36.1	2	0.5
Family history present	1,399	48.9	14	16.3	307	41.5	7	41.2	13	59.1	158	56.8	84	32.3	674	71.5	73	61.3	69	17.3
Number of reporting source recordsa	3,987		130		1,264		19		31		328		334		1,241		146		494
Administrative data b	530	13.3	20	15.4	107	8.5	0	0.0	3	9.7	24	7.3	39	11.7	165	12.3	35	24.0	137	27.7
Clinical records c	3,457	86.7	110	84.6	1,157	91.5	19	100.0	28	90.3	304	92.7	295	88.3	1,076	86.7	111	76.0	357	72.3

Note. MD STARnet = muscular dystrophy surveillance, tracking and research network; MD = muscular dystrophy; CMD = congenital muscular dystrophy; DBMD = Duchenne and Becker muscular dystrophy; EDMD = Emery– Dreifuss muscular dystrophy; FSHD = facioscapulohumeral muscular dystrophy; LGMD = limb-girdle muscular dystrophy; DM = myotonic dystrophy; OPMD = oculopharyngeal muscular dystrophy; MD-NOS = muscular dystrophy-not otherwise specified.

^aCases may have data at one or more administrative or clinical sources.

^bAdministrative data includes birth defects registries, healthcare administrative data (including accounting records), hospital discharge summaries, Medicaid claims, and vital records (birth and death certificates).

^cClinical records include inpatient or outpatient facility with or without muscular dystrophy/neuromuscular clinic, genetic services, hospital records, and others.