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Isaac syndrome: everything you need to know

The Isaac syndrome is a neuromuscular disorder that can be hereditary or acquired. This pathology affects the peripheral motor neuron.

When the Central Nervous System (CNS) decides to process a motor response in the form of movement, it transmits the order by means of electrical impulses. It is then when the motor neurons through the synapse take the stimulus to the muscles in charge of executing the action.

However, during the development of this disease there are alterations in this transmission of information. Therefore, the patient feels that their muscles contract involuntarily and constantly. This phenomenon can occur even when the patient is in a resting state.

In addition, it is a due to its low percentage of clinical cases. We can find different names to describe this disorder, such as neuromyotonia or continuous motor activity syndrome.

Symptoms of the Isaac Syndrome

Isaac syndrome: everything you need to know

In all the clinical cases studied, patients developed the disease between fifteen and sixty years. However, most individuals began to experience symptoms around the age of forty. These alterations are progressive, that is, they worsen with the passage of time.

Some of the symptoms that appear more frequently in patients with this subtype of syndrome are:

  • Muscle rigidity: when it gets worse, you can see bulges that move through the muscles of the individual (this phenomenon is known as fasciculation ). It also produces great pain and it is increasingly difficult to relax the muscles.
  • Tremors, spasms and muscle cramps: begin at one extremity and expand throughout the body. In addition, they can not be controlled and are produced continuously.
  • Difficulty speaking: the person is not able to control the facial muscles to articulate the sounds of the speech device.
  • Problems to perform breathing: this is because they can not move and coordinate the muscles involved in the respiratory cycle, such as the diaphragm and intercostal muscles.
  • Problems swallowing: patients often bite their tongue when trying. There is no coordination between the muscles of the digestive system and those of the respiratory system. Therefore, food could be diverted in the pharynx to the larynx, causing the suffocation of the subject.
  • Sweating and rising skin temperature.
  • Tachycardia : it is an increase in the pathological heart rate that can end up giving rise to other arrhythmias and diseases related to the circulatory system.

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Causes of Isaac Syndrome

According to the studies carried out, we can differentiate the origin of this disorder according to whether it is inherited or acquired:

  • Cases of hereditary disease are very small and the gene that causes it is still unknown.
  • Acquired. It appears along with other disorders. In the majority of cases it has an origin in an autoimmune alteration, the antibodies of its organism attack different parts of the motor nerves. In other cases it appears in patients with cancer ( Hodgkin’s lymphoma ).

Diagnosis of Isaac Syndrome

Isaac syndrome: everything you need to know

The most common form of diagnosis is a complete study of the patient’s DNA and specific markers of antibodies to autoimmune diseases or cancer.

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Treatment of the Isaac Syndrome

An effective cure against this disease has not yet been discovered . However, there are other types of treatments that alleviate and improve the quality of life of the patient.

Medications can be used to prevent seizures, such as phenytoin and carbamazepine, which greatly alleviate muscle pain and block contraction.

In other cases we find the use of immunoglobulins and the by extracting blood from the patient to try to control the altered antibodies. This would only be effective in the case of an alteration of autoimmune character as the origin of the syndrome.

Prevention of the Isaac Syndrome

Isaac syndrome: everything you need to know

Unfortunately, we can not avoid the inheritance of this disease but if any member of our family presents it, we will have to inform our doctor.

On the other hand, the factors that favor the development of this disease have not been discovered until now. We only know that it can appear in relation to other neurodegenerative disorders.

Isaac syndrome: everything you need to know