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FSHD European Survey Launched

April 21st, 2022

An important study between FSHD Europe and the John Walton Muscular Dystrophy Research Centre (JWMDRC) at Newcastle University has launched this week.

There is a growing interest from several pharma companies to run clinical trials in FSHD in Europe. FSHD Europe is working with the Pharmaceutical Industry to ensure that when trials are developed, they are designed and organized in a way to maximize the involvement and participation of people living with FSHD. In order to achieve this, FSHD Europe are conducting a large-scale survey of people living with FSHD and caregivers across Europe.

FSHD Europe are providing funding to the JWMDRC to develop, manage and analyse this survey. The survey will include questions about the person’s condition and how they currently manage it. It will also include some questions to gain insight into the FSHD community’s thoughts and opinions on clinical trials, and what might encourage them to participate.

We hope this will be far reaching in the FSHD community across Europe and are keen for as many people living with FSHD and caregivers to be given the opportunity to participate as possible. There are no right or wrong answers, we are looking for your opinions.

The survey will be available to complete online from the 15th of April until 2nd May 2022. FSHD Europe are committed to sharing the information they learn from the survey with the FSHD community.

Please follow this link to complete the survey in English.

Links to the survey are also available in Dutch, French, German, Italian and Spanish.

If you have questions or would like further information, please visit the FSHD Europe website or contact Megan McNiff at JWMDRC: megan.mcniff@newcastle.ac.uk

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Categories: NewsResearch

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