We need your help to develop and plan research!

  We need your help to develop and plan research! MDI strives to support and fund quality research into neuromuscular conditions. However, when planning research, the expertise of people with lived experience of the condition is sometimes missing. It is important that this lived experience is combined with the expertise of researchers. This partnership can […]

Hopeful news on two new treatments for generalised myasthenia gravis

About myasthenia gravis They are two main types of myasthenia gravis (MG), generalised and ocular. Generalised MG is the most common type, accounting for 85 per cent of people with MG. It is a rare condition with a global prevalence of 100–350 cases per every one million people. Muscle weakness is the hallmark of myasthenia […]

Approval in US of first gene therapy for Duchenne muscular dystrophy – ELEVIDYS

On 22 June, the US Food and Drug Administration (FDA) granted accelerated approval to Sarepta Therapeutics’ gene therapy SRP-9001 (also known as delandistrogene moxeparvovec-rokl) for Duchenne muscular dystrophy (DMD). Approval was granted for the treatment of children aged between four and five years, with Duchenne muscular dystrophy who can walk unassisted. The FDA’s accelerated approval […]

Transitioning to adulthood

Are you over 18 years of age, living with a neuromuscular condition and interested in sharing your experiences and challenges of transitioning to adulthood such as leaving secondary school, getting a job, going to post-secondary education, meeting young people socially etc? If yes, we want to hear from you! Moving into adulthood can be a […]

Developments in international research and treatments

  Researchers around the world are working very hard to find cures and treatments for neuromuscular conditions. Drug development takes years and at times studies that show promising results throughout the different clinical trial phases may fail at the last hurdle. Some promising studies on the horizon are described below and we will be watching […]

Bringing your voice into research

MDI strives to support and fund quality research into neuromuscular conditions. However, in research, we are sometimes missing the expertise of people with lived experience of the condition. MDI are committed to bringing your voice into research, which will help researchers focus on specific elements that will impact the community while explaining their research in […]

Update on MDI Registry

One of MDI’s strategic priorities is to support researchers and clinicians to carry out quality research into neuromuscular conditions. An initiative in achieving this is the development of a registry of people in Ireland with a neuromuscular condition. A registry is a database containing information about individuals who are affected by a specific condition. In […]

Call for research participants

Call for research participants – creating resources for young people to prepare for transitioning to adulthood Are you 21 to 30 years with muscular dystrophy and interested in sharing your experiences with researchers to assist in creating resources for young people to prepare for transitioning to adulthood? Moving into adulthood can be a hard time […]

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 […]

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