DUCHENNE MUSCULAR DYSTROPHY (DMD)

Duchenne is the MOST COMMON AND SEVERE muscular dystrophy in children.

X-LINKED recessive disorder, that affects mainly boys.

Caused by mutations in the DYSTROPHIN GENE, and the loss of dystrophin which provides structural stability to muscle cells.

Leads to PROGRESSIVE MUSCLE WEAKNESS and wasting. Early intervention can slow the course of the disease.1

Affects ~1:5000 male births worldwide

Estimated 300,000 sufferers worldwide 2

Symptoms appear at ~2.5 YEARS of age

Diagnosis as late as at ~4-5 YEARS of age

References:

1. Birnkrant, D.J.; Bushby, K.; Bann, C.M.; Apkon, S.D.; Blackwell, A.; Brumbaugh, D.; Case, L.E.; Clemens, P.R.; Hadjiyannakis, S.; Pandya, S.; et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: Diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol. 2018, 17, 251–267.

2. Duchenne UK website: https://www.duchenneuk.org/Pages/FAQs/Category/what-is-duchenne 3. Bushby KM, Hill A, Steele JG. Failure of early diagnosis in symptomatic Duchenne muscular dystrophy.

Lancet 1999 Feb 2 ,353(9152):557-8.4. FDA cleared drugs for Duchenne: https://www.parentprojectmd.org/duchenne-drug-development-pipeline5. Database of clinical studies: http://clinicaltrials.gov

Products may not be licensed in accordance with the laws in all countries, such as Canada. Please check with your local representative for availability.

WHY SCREEN FOR DUCHENNE IN NEWBORNS?

“Future therapeutic interventions are likely to make a real difference to prognosis only if they can be instituted early” 3

NBS communication card - Duchenne Muscular Dystrophy (DMD)

Advances in new therapies:• 3 FDA approved drugs available4

• Over 70 clinical trials ongoing5

Help families plan earlier:• Finding a neuromuscular provider• Start early therapy (stretching,

and physical therapy)• Starting corticosteroids and other

disease modifying treatments • Family planning• Enroll in clinical trials

GSP® Neonatal Creatine Kinase –MM kit• First FDA cleared CE-IVD assay for Duchenne Newborn Screening now available by

PerkinElmer• GSP® Neonatal Creatine Kinase –MM kit separates well DMD affected cases from

normal newborns• Over 200K babies screened worldwide using GSP® Neonatal CK –MM kit• Based on reliable DELFIA® Immunoassay

Find out more by visiting our website: www.newbornscreening.perkinelmer.com/disorders or by contacting your local representative