Global Registry for COL6-related dystrophies

September 12th, 2019

The Global Registry for COL6-related dystrophies is a research database for individuals who have been diagnosed with Bethlem Myopathy, Ullrich Congenital Muscular Dystrophy (UCMD) or an intermediate form of these conditions.  The registry team is based at Newcastle University, UK.  The registry aims to; improve clinical trial readiness, encourage and facilitate further research into the COL6 related dystrophies, provide researchers with data to support their research and assist doctors and other health professionals by providing them with up-to-date information on managing COL6-related dystrophies, to help them deliver better standards of care for their patients.   For more information on how to participate please visit www.collagen6.org or contact the curator at collagen6registry@ncl.ac.uk

Categories: News

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