Fact Sheets

For in-depth information on a range of neuromuscular conditions, please download one of the “fact sheets” listed below or for a full list of Neuromuscular Conditions and their signs and symptoms, see Muscular Dystrophy South Australia’s Neuromuscular Booklet.

List of Neuromuscular Conditions


The fact sheets have been adapted from material originally prepared by the Muscular Dystrophy Association of the United States of America with their kind permission. We are grateful to them for providing this valuable and informative material.

The fact sheets can be read using Adobe Reader, available at www.adobe.com.

Charcot-Marie-Tooth Disease (CMT)

  • also known as Hereditary & Motor Sensory Neuropathy (HMSN)
  • and also as Peroneal Muscular Atrophy

Duchenne and Becker Muscular Dystrophies (DMD & BMD)

Facioscapulohumeral Muscular Dystrophy (FSHD)

Friedreich’s Ataxia (FA)

Genetics and Neuromuscular Diseases

  • What is a genetic disorder?
  • How can genetic testing and counselling help?
  • How are genetic disorders inherited?
  • What are the patterns of inheritance for neuromuscular conditions?
  • What is ‘mitochondrial inheritance’?

Inflammatory Myopathies

  • Dermatomyositis (DM)
  • Polymyositis (PM)
  • Inclusion-Body Myositis (IBM)

Later Onset Muscular Dystrophies

  • Limb-Girdle Muscular Dystrophy
  • Facioscapulohumeral Muscular Dystrophy
  • Myotonic Muscular Dystrophy
  • Ophthalmoplegic Muscular Dystrophy
  • Distal Muscular Dystrophy

Motor Neurone Disease

  • Amyotrophic Lateral Sclerosis (ALS)
  • Progressive Muscular Atrophy
  • Progressive Bulbar Palsy

Myasthenia Gravis

  • Myasthenia Gravis (MG)
  • Lambert-Eaton Myasthenic Syndrome (LES)
  • Congenital Myasthenic Syndrome (CMS)


  • Myotonia Congenita (Thomsen’s disease and Becker type)
  • Paramyotonia Congenita (Eulenberg’s disease)
  • Periodic Paralysis (hyperkalaemic, hypokalaemic, normokalemic)
  • Central Core Disease
  • Nemaline Myopathy (Rod Body Disease)
  • Myotubular Myopathy (Centronuclear Myopathy)

Myotonic Muscular Dystrophy (MMD)

  • Type 1 MMD (MMD1)
  • Type 2 MMD (MMD2)
  • Adult-Onset MMD
  • Congenital MMD

Rare Muscular Dystrophies

  • Congenital Muscular Dystrophy (CMD)
  • Emery-Dreifuss Muscular Dystrophy (EDMD)
  • Oculopharyngeal Muscular Dystrophies (OPMD)

Spinal Muscular Atrophy (SMA)

  • SMN-Related SMA
  • Non-SMN SMA
  • Spinal-Bulbar Muscular Atrophy