National Rare Disease Plan

Cover - National Rare Disease Plan

Download National Rare Disease Plan

On Thursday 3rd July 2014 Ministerfor Health Dr James Reilly launched the new National Rare Disease Plan.
The key recommendations in the Nation Plan for Rare Diseases include:

  • The establishment of a National Clinical Programme for Rare Diseases.
  • The establishment of a National office for Rare Diseases.
  • Residential and respite care to be available for children with Rare diseases.
  • Applications for the use of fair and transparent means to access orphan medicines and technologies in hospitals through the national budget.
  • The HSE and NGOs to provide ongoing support for people living with rare diseases and the promotion of awareness of rare diseases.
  • The development of a rare disease research network to enhance the quality and relevance of rare disease research in Ireland.
  • Patient empowerment and the support of patient organisations in the establishment of monitoring and reporting mechanisms on the rare disease plan.

Click on the image on the right to download a PDF version of the full report. We at MDI also have a few hard copies at our head office in Chapelizod. If anyone would like one or for further details please contact:
Clair Kelly,
Information and Research Officer,
Muscular Dystrophy Ireland,
75 Lucan Road,v
Chapelizod, Dublin 20.
Ph: (01) 6236414
Fax: (01) 6208663
E-mail: Claire@mdi.ie

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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