Table 1

Benchmark criteria for each stage of the diagnostic pathway

NumberRecommendation6Audit criteriaBenchmark standard7
(1)DMD is confirmed as a definitive diagnosis once the presence of a genetic mutation in the dystrophin gene has been established via genetic testing or sequencing6Age at definitive diagnosisMean age: 51.7 months7
(2)DMD should be suspected in a patient not walking by 16–18 months, showing Gowers’ sign, or toe walking (any age, especially <5 years old)6Age at first engagement with a healthcare professional related to reported symptoms suggestive of DMDMean age: 42.9 months7
(3)As (2)Age at first reported symptoms, defined as age of first reported concerns by parentsMean age: 32.5 months7
(4)CK test should be performed if unexplained increase in transaminases or the patient has symptoms suggestive of DMD6Age at first blood test result with measurement of CK or CK-MMMean age: 50.1 months7
(5)In the absence of neonatal screening for DMD, parents need to initiate contact with a healthcare professional if they, or persons involved in caring for their child (eg, nursery teachers), have concerns regarding the development of their childTime from first reported symptoms to first engagement with a healthcare professional (presentational delay), defined as time from (3) to (2)Mean time: 10.4 months7
(6)Healthcare professionals should follow guidelines to establish the diagnosis of DMD.6 Rapid referral to a neuromuscular specialist, with input from a geneticist or genetic counsellor is recommended.9Time from first engagement with a healthcare professional to date of definitive diagnosis (diagnostic delay), defined as time from (2) to (1)Mean time: 8.8 months7
(7)As (5) and (6)Total time from first reported symptoms to definitive diagnosis, defined as time from (3) to (1)Mean time: 19.2 months7
  • CK, creatine kinase; CK-MM, muscle creatine kinase; DMD, Duchenne muscular dystrophy.