• EURO-NMD – An overview of European Reference Network for neuromuscular diseases

    A staggering 7000-8000 rare diseases affect the daily lives of around 30 million people across the European Union. Even though EU citizens benefit from improved access to healthcare throughout the
  • World Duchenne Awareness Day 2020: Duchenne and the brain

    Learning and behavioural challenges in DMD and BMD Both conditions are characterised by progressive muscle breakdown. A certain part of the DNA is missing, duplicated, or changed so the code cannot be
  • Between hype and hope: the truth about gene therapy and genome editing in Duchenne muscular dystrophy

    About Duchenne muscular dystrophy Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy affecting around 1 in 5,000 newborn boys worldwide. The main characteristic is a
  • Meeting the partners — John Walton Muscular Dystrophy Research Centre

    Dr. Michela Guglieri is Honorary Consultant in Human Genetics and is working as a Neurologist and Senior Research Associate at the John Walton Muscular Dystrophy Research Centre (JWMDRC). Upon
  • Exercise in neuromuscular disorders: a moving topic

    Nicole Voet is a rehabilitation physician and scientific researcher in the Rehabilitation Centre Groot Klimmendaal in Arnhem and in the academic medical hospital Radboud University Medical Centre in
  • In pursue of the discovery of DUX4 small molecule repressors: how long is the path to the clinic in FSHD?

    Facioscapulohumeral muscular dystrophy (FSHD) is the second most common form of muscular dystrophy affecting 1 in 8,333 individuals worldwide. The disease is characterized by progressive and
  • What is a patient registry?

    A patient registry collects information about patients who are affected by a particular condition. Registries are databases containing quantitative and qualitative data about the patients. In rare
  • Share4Rare Webinar VIII: ‘State of the Art of Rare Disease Activities in Europe’

    The Resource on the ‘State of the Art of Rare Disease activities in Europe’ is a well-established resource providing valuable, detailed information for all stakeholders in the field of rare diseases
  • Aleksandra talks about her experience of caring for her children with rare neuromuscular diseases

    Aleksandra has two children affected by a rare neuromuscular disease. Her son has a diagnosis of limb-girdle muscular dystrophy type 2D (LGMD2D) and her daughter has a diagnosis of collagen VI
  • The psychosocial impact of long-term caregiving in rare neuromuscular conditions

    There are so many advantages to getting a clearer picture of how your time and energy is spent. It can help you and others learn new things, and assist in making informed decisions about how to spend
  • A carer for family members with myotonic dystrophy talks about the challenges of diagnosis and living with this rare disease

    Nicky is a carer for six family members across three generations who have a diagnosis of myotonic dystrophy. Like many families, they had been living with the wide range of symptoms associated with
  • A world of sensations: Bruna’s story

    Bruna is 12 years old and is affected by an ultra-rare genetic syndrome that causes severe refractory epilepsy, cognitive and motor retardation — she is not able to speak or walk — and severe visual