Update on MDI Registry

March 18th, 2023

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 rare conditions, they play an important role in supporting pathways for developing therapies.

Registries can:

  • Identify participants for clinical trials
  • Help develop care standards, to help improve the care people receive
  • Support specific research questions
  • Provide information for doctors and scientists to learn more about neuromuscular conditions in Ireland
  • Represent a link between people with a neuromuscular condition and the research community.

We are currently working with clinicians, researchers, and people with lived experience of neuromuscular conditions on the design and delivery of this project that has potential to impact positively on the muscular dystrophy community. We have forged relationships with international organisations including Euro-NMD Registry and Treat-NMD as we work towards finalising the database.

The types of data gathered will include – clinical and genetic diagnosis details, when symptoms started, date of diagnosis, current best motor function, other related symptoms such as heart function and questions about your quality of life. We look forward to keeping you updated on the development of the Registry.

Keep on eye on our social media for exciting developments and we will have a further update in our next newsletter.

Disclaimer
Please note that MDI shares information about neuromuscular conditions. We do not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.

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Categories: Research

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