Research on Personal Assistance Service in Ireland published today

The Economic and Social Research Institute (ESRI) has published research on Personal Assistance Services in Ireland. It describes inconsistencies experienced by disabled people in accessing a PA service and its current limitations. You can view the full report here and a summary here. Overall, the evidence shows satisfaction among many service users, but suggests that […]

Webinar on spinal muscular atrophy (paediatrics) – MDUK – on 8 Dec

Join Muscular Dystrophy UK for their Muscles Matter 2022 seminar on spinal muscular atrophy (paediatrics) on Thursday 8 December 10am – 12pm. It will cover the latest research into as well as information and advice on living well. Speakers will include Professor Laurent Servais MD, PhD who is Professor of Paediatric Neuromuscular Disease at the […]

Webinar on Duchenne MD (adults) with MDUK on 5 Dec

Join Muscular Dystrophy UK for their upcoming Muscles Matter 2022 online seminar on Duchenne muscular dystrophy (adults) which will take place on Monday 5 December 2022 from 10am to 12pm. Speakers will include Professor Ros Quinlivan, Professor of Neuromuscular Disease, from UCL Queen Square Institute of Neurology. The session will cover the Adult North Star Network, and […]

Would you like to share your views with RTE on disability and the cost of living?

A journalist working in the RTÉ Newsroom is putting together some pre-budget coverage for their website and social media that will show people’s moods and views ahead of the budget with the cost of living crisis and energy hikes. They would really like to focus on the views of people with disabilities and carers – […]

Charcot-Marie-Tooth UK Conference 6 and 7 May

Charcot-Marie-Tooth UK’s Conference 2022 will be held online on Friday 6 and Saturday 7 May. Find out more about their excellent line-up of speakers, including Professor Mary Reilly, the UK’s leading authority on CMT, and book here.  

FSHD European Survey Launched

An important study between FSHD Europe and the John Walton Muscular Dystrophy Research Centre (JWMDRC) at Newcastle University has launched this week. There is a growing interest from several pharma companies to run clinical trials in FSHD in Europe. FSHD Europe is working with the Pharmaceutical Industry to ensure that when trials are developed, they […]

CMS Research and Treatment – online event 15 December

Myaware – UK charity dedicated to the care and support of people affected by myasthenia – will be hosting a Zoom session on Research and Treatment regarding Congenital Myasthenia Syndrome (CMS) with Dr Sithara Ramdas, Consultant Paediatric Neurologist. Dr Ramdas is based at the John Radcliffe Hospital in Oxford and has extensive experience working with […]

1. Muscular Dystrophies

  • Becker muscular dystrophy
  • Duchenne muscular dystrophy
  • Manifesting carrier of Duchenne
  • Congenital muscular dystrophy
  •     •  General
  •     •  MDC1A (merosin-deficient congenital muscular dystrophy)
  •     •  Rigid spine syndrome (RSS)
  •     •  Ullrich congenital muscular dystrophies
  •     •  Bethlem myopathy
  • Emery-Dreifuss muscular dystrophy
  • Facioscapulohumeral muscular dystrophy
  • Limb-girdle types of muscular dystrophy (LGMD)
  •     •  General
  •     •  LGMD 1B (also known as Laminopathy)
  •     •  LGMD 1C (also known as Caveolinopathy)
  •     •  LGMD 2A (also known as Calpainopathy)
  •     •  LGMD 2B (also known as Dysferlinopathy)
  •     •  LGMD 2I
  • Ocular myopathies including ocularopharangeal muscular dystrophy

2. Myotonic Disorders

  • Congenital Myotonic Dystrophy
  • Myotonia
  • Myotonic Dystrophy

3. Congenital Myopathies

  • Central Core Myopathy
  • Congenital Fibre-type Disproportion Myopathy
  • Minicore (Multicore) myopathy
  • Myotubular or Centronuclear myopathy
  • Nemaline myopathy

4. Mitochondrial Myopathies

  • Mitochondrial Myopathies

5. Metabolic Disorders

  • Metabolic disorders (general)
  • McArdle’s Disease
  • Pompe’s Disease

6. Periodic Paralyses

  • Periodic Paralyses

7. Autoimmune Myositis

  • Polymyositis, Dermatomyositis and Sarcoid myopathy
  • Juvenile dermatomyositis
  • Inclusion body myositis

8. Spinal Muscular Atrophies

  • Severe (Type I)
  • Intermediate (Type II)
  • Mild (Type III)
  • Adult spinal muscular atrophy

9. Hereditary Motor and Sensory Neuropathies

  • (Also known as Charcot-Marie-Tooth or Peroneal muscular atrophy)

10. Disorders of the Neuromuscular Junction

  • Congenital myasthenic syndromes
  • Myasthenia Gravis

11. Friedreich’s Ataxia

  • Friedreich’s Ataxia

12. Other (Please Specify)

13. Unspecified