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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 […]

PPI Research

Public and Participant Involvement in Research (PPI) Muscular Dystrophy Ireland are inviting people living with neuromuscular conditions, their carers, and their families, to join a panel of PPI contributors. The purpose of the PPI panel is to support research and researchers seeking new treatments and therapies for neuromuscular conditions. This is an opportunity for people […]

Webinar: Gene Therapy Clinical Update

Parent Project Muscular Dystrophy has invited Sarepta Therapeutics to present details of the EMBARK clinical trial (SRP-9001-301). They are hosting a webinar on Wednesday, October 13th at 3 PM EST. PLEASE NOTE: Webinar takes place at 3pm USA Eastern Standard Time which is 8pm IRISH TIME. For more details see: http://join.parentprojectmd.org/site/MessageViewer?em_id=31904.0&dlv_id=26669

Paediatric-focused seminar on spinal muscular atrophy (SMA) from MDUK

Join Muscular Dystrophy UK on Monday 23 August 10am-12pm for their MDUK Muscles Matter 2021 online seminar on spinal muscular atrophy (SMA). The session will be paediatric-focused, with a panel of researchers, paediatric neurologists and physiotherapists. There will be presentations on the latest research into SMA, discussions on how to manage the condition as well […]

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

2. Myotonic Disorders

  • Congenital Myotonic Dystrophy
  • Myotonia
  • Myotonic Dystrophy

3. Congenital Myopathies

  • Central Core 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 Myositides

  • 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

  • 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

12. Other (Please Specify)

13. Unspecified