Neuromuscular Disorders

Neuromuscular Disorders

They are a group of diseases that, while having a great heterogeneity in clinical features, all have as a common feature muscle weakness. The majority involves genetic disorders, caused by DNA mutations and therefore can be inherited to more than one person in the same family. It is estimated that the frequency of genetic neuromuscular diseases is about 1: 3000 individuals, although the large number of diseases and the diagnosis difficulty does not allow finding the accurate frequency in the general population.

Prior to detecting mutations with DNA analyzes, the diagnosis was mainly based on the clinical symptoms of patients or on painful and time consuming examinations (eg muscle and nerve biopsy and electromyography), and prevention (prenatal control and carrier detection) was impossible. Nowadays, genetic testing is applied for many genetic neuromuscular disorders with DNA analysis isolated from peripheral blood of patients, but requires specialized examinations and laboratories.

Types of disorders

Muscular Dystrophies

  1. Duchenne Muscular Dystrophy (DMD)
  2. Becker Muscular Dystrophy (BMD) or Becker Dystrophy disease
  3. Emery-Dreifuss Muscular Dystrophy (EDMD)
  4. Limb-Girdle Muscular Dystrophies (LGMD)
  5. Myotonic Dystrophy Type 1 (DM1 or Steinert Disease) and Myotonic Dystrophy Type 2 (DM2 or Proximal Myotonic Dystrophy, PROMM)
  6. Oculopharyngeal Muscular Dystrophy (OPMD)
  7. Fasioscapularhumeral Muscular Dystrophy (FSHD)
  8. Congenital Muscular Dystrophies
  9. Leukodystrophies
  10. Scapuloperoneal Myopathy



  1. Congenital Myopathies
  2. Centronuclear Myopathy
  3. Nemaline Myopathy
  4. Central Core Myopathy (CCD)
  5. Pompe Disease
  6. McArdle’s Disease


Motor Neuron Diseases

  1. Spinal Bulbar Muscular Atrophy, SBMA or Kennedy Disease)
  2. Amyatrophic Lateral Sclerosis (ALS)
  3. Spinal Muscular Atrophy (SMA)


Mitochondrial Diseases

  1. Mitochondrial Myopathies – Kearn Sayre Syndrome
  2. Friedreich Ataxia


Ion channel diseases

  1. Myotonia Congenita
  2. Primary Periodic Paralysis


Neuromuscular junction Diseases

  1. Myasthenia Lambert – Eaton (LEMS)
  2. Myasthenia Gravis (MG)


Peripheral Nerve Disease

Charcot-Marie-Tooth Disease (CMT)


Other Neuromuscular Disorders

  1. Polyneuropathies
  2. Neck Dystonia
  3. Danon disease
  4. Dejerine Sottas Syndrome
  5. Guillain Barre Syndrome
  6. Multiple Congenital Arthrogryposis (AMC)
  7. Myositis Disorders
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