It still takes 2.2 years from the first signs of the disease to the confirmation of the genetic diagnosis of Duchenne muscular dystrophy (DMD). This is the finding of a study by the MD STARnet.
Analysis of the records of 221 boys with Duchenne muscular dystrophy with no family history and born between 1 January 2000 and 31 December 2015 shows:
- the mean age at which the first signs are reported by the referring physician is 2.7±1.8 years;
- the first creatine kinase (CK) assay performed on average at age 4.6±2.3 years, i.e. almost two years later;
- a histological or most often genetic diagnostic confirmation (96.4% of cases) is obtained on average within four months (4.9±2.3 years);
- in thirty-nine children, a diagnosis was made following an increase in the CK level, which had been requested for another medical reason.
The average delay in the diagnostic steps of DMD is not significantly different from those of the previous twenty years, since a first study of the MD STARnet network, published in 2009, showed an average delay of 2.5 years between the first symptoms and the confirmation of the diagnosis of Duchenne muscular dystrophy at the average age of 5 years in children born between 1 January 1982 and 31 December 2000.
