• Safe motherhood in rare disease

    " Duchenne muscular dystrophy is a genetic disorder characterized by the progressive loss of muscle . Duchenne is caused by a mutation in the gene that encodes for dystrophin , a protein that is
  • What causes myotonic dystrophy type 1?

    Myotonic dystrophies are genetic disorders. They are systemic conditions, meaning they affect many systems in the body, not only the muscles. The genetic alteration that causes myotonic dystrophy is
  • A new nomenclature for Limb Girdle Muscular Dystrophies (LGMD)

    The 229th ENMC international workshop, entitled ‘Limb Girdle Muscular Dystrophies – Nomenclature and reformed Classification’ took place from the 17th to the 19th of March 2017 in Naarden (The
  • What causes Amyotrophic Lateral Sclerosis (ALS)?

    Amyotrophic lateral sclerosis: a patient’s journey «It was a sunny Sunday morning in the middle of September. Amy was playing in the local playground under the watchful eye of her parents, trying to
  • WDO Member Meeting

    The main aim of the WDO Member Meeting was to gather patient organizations, scientists, researchers and experts working in the Duchenne field to share and build on each other’s knowledge to create
  • CPMS Platform for European Reference Networks (ERNs)

    European Reference Networks (ERNs) are virtual networks involving healthcare providers across Europe who aim to tackle complex or rare diseases and conditions. There are 24 ERNs involving 25 European
  • Preclinical study shows gene editing restores altered dystrophin levels in Duchenne

    What is DMD? DMD is a disorder that mainly affects boys and is characterized by progressive muscular degeneration and atrophy. It is caused by mutations in the gene encoding dystrophin , a protein
  • Duchenne and Becker muscular dystrophy: Treatment & Research. Part II.

    Investigations Genetic testing will confirm the diagnosis of Duchenne and Becker and show the exact mutation in the gene. Often the first test is a blood test measuring CK (creatine kinase), which is
  • Duchenne and Becker muscular dystrophy: types & causes. Part I.

    What is Duchenne- and Becker Muscular Dystrophy? Duchenne and Becker MD are both X-linked recessive disorders. Both diseases are caused by mutations in the dystrophin gene, which encodes the protein
  • VISION-DMD App for boys with Duchenne Muscular Dystrophy

    The Vision-DMD project aims to advance and accelerate the clinical development of the orphan drug Vamorolone —also known as VBP15— for the treatment of Duchenne Muscular Dystrophy (DMD) in ambulant
  • How to build an infrastructure for translational research

    On 11th December 2018, Rebecca Leary , EURO-NMD Project Manager and member of the TREAT-NMD Secretariat and Cathy Turner, DMD Liaison and TACT Coordinator at the John Walton Muscular Dystrophy
  • How to guarantee quality in translational research for neuromuscular diseases

    It is not easy to go from basic drug research to clinical trials on humans, and for rare neuromuscular diseases the scenario is even harder. Besides, not always all the projects arrive to the human