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Anam Cara support group for bereaved parents

Anam Cara provides information, resources and bereavement support after the death of a child of any age and through all circumstances to all bereaved parents. They will host a very special online group on a monthly basis, starting on Tuesday 15th March at 7pm. The group is specifically for parents living with no surviving children. […]

#Resolution4Rare

MDI encourages you to join the global community of people living with rare conditions, led by Rare Diseases International, EURORDIS – Rare Diseases Europe and the NGO Committee for Rare Diseases, in calling for a UN Resolution that recognises the complex challenges faced by people living with rare condition, and promotes full participation and inclusion […]

LGMD Awareness Day

Limb Girdle Muscular Dystrophy (LGMD) Awareness Day – 30 September – is a collaborative effort to raise awareness globally of the rare neuromuscular conditions known as LGMD. As part of Limb Girdle Muscular Dystrophy Awareness Day, we are sharing facts about the condition https://www.lgmd-info.org/what-is-lgmd/lgmd-facts/. Please LIKE, COMMENT and SHARE this post to help raise awareness of LGMD! We invite everyone […]

Safety notice for specific breathing devices

We wish to let you know that Philips has issued a Field Safety Notice for specific breathing devices. The Field Safety Notice informs customers and users of the devices of potential impacts on patient health and clinical use related to this issue, as well as instructions on actions to be taken. Additionally, the notification provides details of […]

MDUK Seminar on Duchenne MD

MDUK Muscles Matter 2021: seminar on Duchenne muscular dystrophy (DMD) on 9 September Join Muscular Dystrophy UK on Thursday, 9 September from 1pm-3pm for their MDUK Muscles Matter 2021 online seminar on Duchenne muscular dystrophy. The session will feature a panel of speakers and will cover the latest research into Duchenne as well as a […]

Paediatric-focused seminar on spinal muscular atrophy (SMA) from MDUK

Join Muscular Dystrophy UK on Monday 23 August 10am-12pm for their MDUK Muscles Matter 2021 online seminar on spinal muscular atrophy (SMA). The session will be paediatric-focused, with a panel of researchers, paediatric neurologists and physiotherapists. There will be presentations on the latest research into SMA, discussions on how to manage the condition as well […]

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