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
Sheonad Macfarlane, mum of a girl with SMA: “Over time, you become an expert on your child’s condition”
“ Eilidh was a perfect little baby. She reached her milestones on time until she started - then promptly stopped – crawling. Eilidh wasn’t moving like other 10-month-old babies: she now hated being on
TREAT-NMD / EURO-NMD Neuromuscular Translational Summer Schools: showing all the dimensions of neuromuscular diseases
The first Neuromuscular Translational Summer School took place in July 2018 in Newcastle upon Tyne, UK. The Summer School was the result of a collaborative effort between TREAT-NMD and EURO-NMD to
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 that