Neuromuscular diseases: signs and symptoms

Neuromuscular diseases (ENM) are a group of diseases whose main feature is the loss of muscle strength. They are chronic diseases that mostly have a genetic origin. Furthermore, these diseases cause loss of personal autonomy and psychosocial burdens.

neuromuscular diseases it can appear at any stage of life. However, around 50% of these diseases appear in childhood. They affect the muscles and nervous system., can be affected:

  • neuromuscular junction: where the nerve meets the muscle.
  • Spinal motor neuron: It is the nerve cells that control the action of the muscles.
  • Nerve peripheral: May affect hands, arms, legs, neck and face.

Causes and types of neuromuscular diseases

The causes of neuromuscular diseases are very diverse. Even in many of them the origin is not yet known. can be classified according to their origin or cause in neuromuscular diseases genetic OR acquired.

While the classification changes as new information about the causes is known from the same. The main types of neuromuscular diseases are as follows:

  • Distal myopathies.
  • Congenital myopathies.
  • Myotonic dystrophy.
  • congenital myotonias
  • muscular dystrophies.
  • spinal amyotrophies.
  • Hereditary neuropathies
  • metabolic myopathies.
  • Familial periodic paralysis.
  • Progressive myositis ossificans.
  • Inflammatory muscle diseases.
  • Diseases of the neuromuscular junction.

Symptoms of neuromuscular diseases

Some of the symptoms common to many of the neuromuscular diseases are as follows which we will mention below.

Muscle aches and pains.

Muscular pain

He Muscular pain that appears may or may not be related to the exercise. When muscle pain appears with a intensity greater than that of lack of trainingIt is a symptom to be taken into account in the physical examination.

gait disorder

Most neuromuscular diseases can present with different gait disturbances. Some of these alterations are wobbling, fatigue, asymmetry, claudication, and tiptoe walking. Swaying gait is usually a manifestation of pelvic girdle weakness due to atrophy of the gluteal musculature.

Frequent falls in neuromuscular diseases

This symptom occurs in neuromuscular diseases due to muscle weakness in the lower limbs. This occurs because patients lose the strength to maintain balance, due to fatigue or not being able to use muscles.

Difficulty going up and down stairs

To perform this action, you need muscle strength in the glutes and quadriceps. Often the quadriceps fatigue and collapse abruptly. so that patients help each other with their upper limbs to perform this action.

Difficulty getting up off the ground

This symptom usually accompanies muscle weakness of the pelvic girdle, it is known as sign of gowers. Patients cannot get up off the floor without placing your hands on the floor or legs. In this way they climb up to the bipedal position.


The cramp appears as a result of fatigue occurring within the muscle.

In neuromuscular diseases, cramps manifest themselves as painful muscle spasms or contractures.

Respiratory infections

They are due to frequent and prolonged respiratory infections weakness in coughing and in keeping the airways clear. Because of this, ventilation capacity is reduced and respiratory failure may also occur.

Sleep disorders

As a consequence of limitations of respiratory capacity, there may be frequent awakenings at night, feeling of suffocation and tiredness during the day.

Signs associated with various neuromuscular diseases

Woman with neck pain
Neck pain is often accompanied by shoulder and back discomfort.

In the physical examination of patients suffering from this type of disease, signs such as:

  • disuse atrophy: It is due to poor development of muscle mass or its destruction.
  • Muscle weakness: Lack of strength is the hallmark of diseases affecting the motor unit.
  • Low height or weight: some neuromuscular diseases are characterized by growth difficulties.
  • Skin changes: like purple lesions on eyelids. Also appear the calcinosis, which are produced from calcium deposits. However, calcinosis manifests itself as lumps under the skin on the knuckles. On other occasions keloids occur, sometimes even spontaneously.
  • Progressive joint contractures: contractures will always occur in those joints where there is muscle weakness and asymmetry between the antagonistic muscle groups.

As we have seen, there are several neuromuscular diseases that affect the neuromuscular system and, to a greater or lesser extent, decrease people’s quality of life. Exactly for this reason, It is essential to have medical care from the very first moment.

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