Neuromuscular Diseases

Neuromuscular Diseases are a diverse group of disorders that affect the nervous and muscular systems. These conditions can involve the nerves, muscles, or neuromuscular junction, leading to a wide range of symptoms that vary based on the type and severity of the disorder.

Possible signs in a child suspected of having a neuromuscular disease:

  • Muscle weakness
  • Muscle cramps, pain
  • Muscle atrophy
  • Tremors, fasciculations (muscle twitching in the tongue or limbs)
  • Eye involvement (drooping eyelids, strabismus, double vision, ophthalmoplegia, nystagmus)
  • Numbness, loss of sensation
  • Postural abnormalities (e.g., hyperlordosis, scoliosis)
  • Gait disturbances
  • Loss of balance, fine motor skill impairment
  • Autonomic dysfunction: pale or cold skin, hypothermia, reduced sweating (hyposudation), blood pressure changes, arrhythmias, diarrhea, constipation
  • Respiratory difficulties

Examples of neuromuscular diseases in pediatric neurology

  • Spinal Muscular Atrophy (SMA)
  • Duchenne Muscular Dystrophy (DMD) & Becker Muscular Dystrophy (BMD)
  • Neuropathies
  • Congenital Myasthenic Syndromes (CMS)
  • Myasthenia Gravis (MG)

To diagnose neuromuscular diseases, the following tests may be required:

  • Blood tests
  • Electromyography (EMG) – records and interprets muscle electrical activity
  • Nerve conduction studies (Electroneurography, ENG) – evaluates how nerves transmit signals
  • CT and MRI (brain/spinal cord imaging)
  • Muscle or nerve biopsy
  • Genetic testing to confirm pathogenic variants
  • Genetic counseling for family members, if necessary

Treatment: Treatment for neuromuscular diseases varies based on the underlying cause. However, a multidisciplinary approach is crucial to prevent complications and ensure an optimal quality of life.

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