The Office for Rare Conditions is working to put the patient to the forefront, providing information and support to all affected by rare and undiagnosed conditions.
Myotonic Dystrophy Information
International Myotonic Dystrophy Day Wednesday 15th September 2021
Dr Mark Hamilton, consultant clinical geneticist at the QEUH and chair of the myotonic dystrophy subgroup of the Scottish Muscle Network, has given a short presentation highlighting the key features of Myotonic Dystrophy and its possible presentations in a range of hospital settings.
Myotonic dystrophy affects at least 1 in 8,000 individuals in Scotland, but often goes unrecognised.
Described as “the most variable disorder known in medicine” it has the potential to affect almost all systems of the body. Those affected may present to a wide range of services including primary care, medical or surgical outpatient clinics and Allied Health Professionals.
Timely diagnosis can allow management of these risks, as well as the provision of genetic and reproductive counselling.