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Study of Adult Neuromuscular Conditions in Ireland

January 21st, 2019

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A Population-Based Epidemiologic Study of Adult Neuromuscular Conditions in the Republic of Ireland

There have been no previous studies in the Republic of Ireland looking at how many adult patients there are with different diseases of the muscles and nerves. We call these conditions ‘neuromuscular conditions’. This study is underway at Cork University Hospital and Beaumont Hospital, Dublin under direction of Dr. Aisling Ryan, Consultant Neurologist, CUH and Prof. Orla Hardiman, Consultant Neurologist, Beaumont Hospital. We are enrolling adult patients with neuromuscular conditions throughout the Republic of Ireland.

Purpose

In this study we would like to find out exactly how many patients there are with different adult neuromuscular conditions in the Republic of Ireland. This will help us to form lists of patients and find out how common these conditions are, and to generate registers of specific conditions. These registers will be a useful way of ensuring that patients can be kept informed about the latest information that might be relevant to their disease including the latest treatment options. Sometimes there are clinical trials of potential new drugs, and registries will facilitate the inclusion of Irish patients with neuromuscular conditions.

Objectives

  • To obtain the prevalence data about the number of people with adult neuromuscular conditions in the Republic of Ireland
  • To generate specific registries for certain neuromuscular conditions
  • To generate specific care programmes for patients with adult neuromuscular conditions

Contact

Click here to find out more information about the study and enrolling procedure from the Patient’s Information Leaflet sample.Those who are interested to participate in the study or have further questions please do not hesitate to contact Dr Stela Lefter, Neuromuscular Research Fellow, mobile: 086 0245886 or via email: stela.lefter@hse.ie

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Categories: Archive

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