Registries

Registries

Duchenne Muscular Dystrophy Registry

A DMD Registry has been set up by “action duchenne” as a tool for researchers to find individuals with specific gene variations and other clinical criteria for new Duchenne clinical trials. In 2008 the MDEX team have used the Registry to make contact with children with Duchenne for the UK exon skipping trial.
The DMD Registry aims to register people living with Duchenne and Becker Muscular Dystrophy as well as carriers of gene variation of the condition. The main purpose of the Registry is to allow clinicians and researchers to accelerate clinical trials and other research. If you would like to have your (our your child’s) name added to the DMD Registry click here

Spinal Muscular Atrophy Registry

TREAT-NMD, in partnership with Spinal Muscular Atrophy Support group in the UK, has developed a registry for people with SMA in the UK and Ireland. This registry is useful, not only for researchers carrying out clinical trials, but also to obtain prevalence data about the number of people with the condition and to try to achieve equal care for all people with SMA. For more information about the registry and how to register, please see click here

Limb Girdle Muscular Dystrophy

The Jain Foundation offers a free patient registry for individuals who have been genetically diagnosed with dysferlinopathy (LGMD2B and Miyoshi Myopathy) through the identification of mutation(s) in the dysferlin gene. For more information click here.

Congenital Muscular Dystrophies

The CMDIR is a global registry for congenital muscle disease (CMD) with a goal, to achieve global registration of the CMD community. The CMDIR is a central hub for up to date information regarding CMD clinical studies and trials. Through the CMDIR, the CMD community has a home- a place to register with and without genetic confirmation of disease and a means by which to be contacted for clinical news. Read more….

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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