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Neuromuscular Diseases

Our brain controls the movement of skeletal muscles through the peripheral nerves. The neuromuscular apparatus, which is made up of a combination of motor neurons, peripheral nerves and muscle fibres, must function correctly in order for the body to function properly. Damage to any part of this apparatus causes neuromuscular disease, which is manifested primarily in muscle dysfunction - muscle weakness.

Classification of neuromuscular diseases is based on the anatomical distribution of the pathological process. Pathological changes may occur in:

In the cross-striated muscle:

  • muscular dystrophies (hereditary disease group)
  • congenital myopathies
  • metabolic muscle diseases
  • inflammatory myopathies;

In the peripheral nerves:

  • polyradiculoneuropathies
  • polyneuropathies

mononeuropathy  the neuromuscular synapse, where the impulse is  transmitted from the nerve to the muscle:
myasthenia gravis and myasthenic syndromes motor neurons of the spinal cord:

  • Spinal muscular atrophies
  • Amyotrophic lateral sclerosis

Which complaints are characteristic of neuromuscular diseases?

Neuromuscular diseases mainly manifest themselves through complaints such as:

  • Rapid fatigue, weakness
  • Reduced strength and limitation of movement
  • Muscle pain and numbness
  • Reduced muscle volume and sometimes painful tingling in different parts of the body, most commonly in the arms and legs
  • Drooping of the upper eyelid (ptosis)
  • Doubling the image
  • Difficult  chewing, swallowing
  • Difficult breathing

These may be constant or change throughout the day. It is worth paying attention to the presence of similar complaints in close family members. If this is the case, you must see a neurologist.

Diagnosis

For the diagnosis of neuromuscular diseases, electroneuromyography (EMG) plays a key role, with the help of which the condition of the motor neuron, peripheral nerve, muscle and neuromuscular synapse is assessed. In addition, the diagnosis of neuromuscular diseases also includes a wide range of other instrumental and clinical-laboratory examinations, which in turn are necessary to assess the electrochemical processes in the muscle and nerve and in many cases require the participation of other specialists (often rheumatologists, endocrinologists, otorhinolaryngologists, allergists, etc.).

Causes

The causes of neuromuscular diseases may include:

  • Genetic mutation
  • Infections
  • Autoimmune disorders
  • Hormonal disorders
  • Metabolic disorders
  • Toxic agents
  • Tumour diseases of internal organs
  • Unknown factors

Remember that early diagnosis of the disease is essential for proper treatment and prevention of further complications.