PTC Therapeutics proudly supports Rare Disease Day (Feb. 28) 2018 by commemorating 150 years since the signs and symptoms of Duchenne muscular dystrophy (Duchenne) were first described and published by French neurologist, Guillaume Duchenne, whose name was attributed to the rare genetic disorder. 

Since Guillaume Duchenne’s observations in 1868, many research advances have been made and innovative treatments are now available, or are in research and development phases. Today, young boys with Duchenne live longer than those observed by Guillaume Duchenne, thanks to these advances. However, there is still a significant opportunity to improve the medical management of boys with Duchenne, by developing further therapies and addressing the age at which they are diagnosed.

“Signs and symptoms of Duchenne typically appear in early childhood. Earlier diagnosis leads to earlier treatment and care which may enable boys to live a longer and better quality of life,” said Dr Anne-Marie Childs, Consultant Paediatric Neurologist from Leeds General Infirmary. “Whilst every infant is different, early signs and symptoms of Duchenne may include delayed motor milestones and poor speech development, frequent falls and calf hypertrophy. This should prompt a simple blood test to measure the muscle enzyme, called creatine kinase (CK), levels which would then guide genetic testing. "

Early diagnosis of Duchenne is important so that patients and families receive the best care and support available. Simple interventions such as physiotherapy, cardiac assessment, orthopaedic management and pulmonary management may extend a patient’s life expectancy and enhance their quality of life.

If it is thought your child may have Duchenne then a simple blood test to determine the levels of CK is one way of initially screening for the condition. The CK test can be carried out by your GP or a hospital physician.  Following any subsequent diagnosis, we would urge families to ensure they enrol on the DMD registry, an important resource used in recruiting for clinical trials." said Mark Silverman, a Duchenne parent and Action Duchenne trustee.

“Diagnosing Duchenne signs and symptoms earlier through improved education, referral and management will make a tremendous difference to those boys affected and their families,” said Janis Clayton, Vice-President and General Manager UK and Ireland, PTC Therapeutics.

Not only have there been significant research advances over the past decade, there have also been important technical advances to support patients and their families following a diagnosis of Duchenne. “The Duchenne and Me mobile app, available now, is for patients and families affected by Duchenne in the UK,” said Mark Silverman. “This app aims to make it easier for patients and parents to help keep track of aspects of their health, from the everyday routine of medication and medical appointment reminders, to having medical contact information to hand when dealing with medical emergencies.”

About Rare Disease Day

Launched by EURORDIS and its Council of National Alliances in 2008, Rare Disease Day has and continues to collaborate with organisations globally in order to put on events, create media coverage, and ultimately raise awareness amongst the general public and policy-makers about rare diseases and their impact on patients’ lives. PTC Therapeutics recognizes and supports Rare Disease Day.

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About Duchenne and Me

Duchenne and Me is your pocket companion, helping you to stay on top of some aspects of your or your child's Duchenne. The App contains information that will help you, such as appointment and medication reminders. Questions about Duchenne? The help section may have the answer. Need your medical information in a hurry? It's just a tap away.

Key features:

  • Dashboard: Your or your child's personal health data at a glance, including options to track height, weight, activity and test results

  • Calendar: Help take control of your day by adding appointment and medication reminders

  • Medical information section: Quick access to your or your child's medical information, with the option to add details of any treatments you are taking

  • Help section: What's on your mind, do you have a question you would like to know the answer to? Chatbot may have the answer

  • Emergency care considerations: Who are your emergency contacts, to share with doctors and helpful information to provide in an emergency about Duchenne

    Duchenne and Me is developed and funded by PTC Therapeutics as a service to patients and their families.

Get the Duchenne and me app