Table 4.
Applying various diagnostic criteria in the literature to the MD STARnet population of 1041 eligible participants
| Article | Criteria† | BMD | DMD | Intermediate | Unclassified |
|---|---|---|---|---|---|
| MD STARnet | BMD: Loss of ambulation≥16 years OR | 121 | 838 | NA | 82 |
| In-frame mutation OR | |||||
| Decreased (≥20%) dystrophin WB OR | |||||
| Onset of symptoms≥10 years OR | |||||
| Multiple concordant combination of the above | |||||
| DMD: Loss of ambulation <12 years (<16 years with ≥24 months continuous steroid use before loss of ambulation or 12years) OR | |||||
| Out-of-frame mutation OR | |||||
| Absent (<5%) dystrophin WB OR | |||||
| Onset of symptoms <5 years OR | |||||
| Multiple concordant combination of the above | |||||
| Ambulation only | |||||
| Tuffery-Giraud et al. 2009 | BMD: Loss of ambulation >16 years | 73 | 484 | 99 | 385 |
| Humbertclaude et al. 2012 | DMD: Loss of ambulation <13 years | ||||
| Elhawary et al. 2004[5, 6, 26] | IMD: Loss of ambulation ≥13 years≤16 years | ||||
| Humbertclaude et al. 2013 [7] | BMD: Loss of ambulation >16 years | 73 | 333 | 250 | 385 |
| DMD: Loss of ambulation <11 years | |||||
| IMD: Loss of ambulation ≥11 years ≥ 16 years | |||||
| Juan Mateu et al. 2013, 2015 | Clinical presentation, age at onset (not defined) | 154 | 534 | NA | 353 |
| [27, 28] | |||||
| BMD: Loss of ambulation >13 years | |||||
| DMD: Loss of ambulation≤13 years | |||||
| Dastur et al. 2008 [29] | BMD: Loss of ambulation ≤ 16 years | 89 | 484 | NA | 468 |
| DMD: Loss of ambulation <13 years | |||||
| Bushby et al. 1993 [51] | BMD: Loss of ambulation >16 years | 73 | 423 | NA | 545 |
| DMD: Loss of ambulation < 12 years | |||||
| Molecular only | |||||
| Anthony et al. 2011 | BMD: In-Frame mutation | 131 | 523 | NA | 387 |
| Gangopadhyay et al. 1992 | DMD: Out-of-Frame mutation | ||||
| Straathof et al. 2009‡ | |||||
| Bello 2012‡ [3, 24, 33, 47] | |||||
| Desguerre et al. 2009 | BMD: Deficiency of dystrophin,IHC or WB | ||||
| Magri et al. 2011 | DMD: Absence of dystrophin,IHC or WB | 20 | 118 | NA | 903 |
| Houde et al. 2008 | |||||
| Barp et al. 2015 [12, 20, 45, | |||||
| 52] | |||||
| Ricotti et al. 2013 [23] | DMD: Out-of-frame mutation OR | NA | 589 | NA | 452 |
| Absence (<5%) of dystrophin IHC | |||||
| Hoffman et al. 1989 | BMD: Dystrophin quantity >3% | 40 | 107 | 0 | 894 |
| Carsana et al. 2005 [53, 54] | DMD: Absence of dystrophin on muscle biospy | ||||
| Multiple | |||||
| Biggar et al. 2006 | DMD: Symptom onset <5 years AND | NA | 378 | NA | 663 |
| Balaban et al. 2005 [17, 19] | Muscle biopsy OR DNA mutation‡ | ||||
| King et al. 2007 [21] | DMD: Out-of-frame mutation OR | NA | 814 | NA | 227 |
| Loss of ambulation≤15 years | |||||
| McDonald et al. 2013 [55] | DMD: Symptom onset <9y AND | NA | 74 | NA | 967 |
| Nonsense mutations AND | |||||
| Ambulatory >=5y w ith no steroids or minimum 6 | |||||
| months stable steroid use |
MD STARnet: Muscular Dystrophy Surveillance Tracking and Research Network; BMD: Becker muscular dystrophy; DMD: Duchenne musculardystrophy;IMD:intermediatemusculardystrophyIHC:immunohistochemistry;WB:westernblot.
†
BMDalsoincludeindividuals still ambulating beyond cut off age.
‡
Assumption that original criteria of reading frame rule and dystrophin absence used when “confirmed DMD” listed.