Gamstorp ‘s disease

Gamstorp ‘s disease
Gamstorp’s disease is a type of paroxysmal periodic paralysis or muscle weakness. This disease belongs to the category of genetic diseases transmitted by inheritance (by autosomal dominant type). The history of the disease can be traced for several generations, regardless of the gender of the patients.

The content of the article:
Symptoms of Gamstorp’s disease
Diagnosis of Gamstorp disease
Treatment of Gamstorp’s disease
Gamstorp ‘s disease
Gamstorp’s disease in modern neurology is also called hereditary or familial episodic adynamia. It is also defined as one of the types of paroxysmal myoplegia (paroxysmal weakness of the limbs, leading to immobilization of the patient, paralysis or paresis). Garstorp’s disease progresses slowly, which makes it possible to make favorable predictions about its treatment, provided timely and correct diagnosis.

This disease is characterized by a sharp increase in potassium in the blood, which provokes seizures. Pathology manifests itself with uncontrolled attacks of weakness of the limbs and facial muscles. Seizures differ in different strength and frequency, are accompanied by vegetative disorder, decreased muscle tone, inhibition of some reflexes.

Symptoms of Gamstorp’s disease
The manifestation of Gamstorp’s disease is observed in childhood (up to five years). The frequency of seizures varies — from daily to several times a month. They usually appear in the daytime. Between attacks, the patient’s condition is characterized as normal, neurological symptoms are not observed. Attacks of muscle weakness can be provoked:

malnutrition (constant feeling of hunger);
physical fatigue;
excessive loads on the muscles;
hypothermia.
An attack of Gamstorp begins with heaviness in the extremities and tingling or numbness of the facial muscles. The face becomes masklike, the skin becomes pale, marbled, or vice versa turns red, there is a strong thirst. Blood pressure goes down and up. Seizures can be interrupted by taking insulin or glucose.

Characteristic symptoms of Gamstorp’s disease:

development of muscle weakness;
lowering the tone of the muscles of the limbs and face, articulation apparatus, facial expressions;
pronounced paresthesia;
the duration of seizures is from half an hour to three hours (in rare cases, the duration is several days);
an increase in potassium in the blood serum to 6-7 mmol / l and urine;
muscle excitability with myotic phenomena;
reduction of tendon reflexes (except electrical excitability).
Diagnosis of Gamstorp disease
Diagnosis of this rare genetic disease has certain difficulties due to the presence of many diseases with similar symptoms. Gamstorp’s disease is diagnosed by the history of family diseases and by characteristic symptoms — seizures. This disease has similarities with a number of other varieties of hypo- and normokalemic paroxysmal moplegia. The analysis of the course of symptoms will help the neurologist to differentiate the disease in a number of similar ones.

The clinical picture of the attack (an increase in body temperature, the presence of sensitivity) and a blood test study will be able to exclude similar symptoms of Landry’s paralysis. Myoplegic syndrome can manifest itself in some diseases of the endocrine system (adrenal tumor, hyperthyroidism, hypercorticism, panhypopituitarism), gastrointestinal pathologies (cirrhosis of the liver, enterocolitis), renal failure. To identify and isolate Gamstorp disease, it is enough to make a biochemical analysis of the blood taken from the patient during the attack. The increased presence of potassium in the blood serum during the attack and its norm in the intercalative state will give grounds for confirming the diagnosis, while the above diseases are characterized by a decrease in the level of potassium in the blood.

Gamstorp attacks should also be distinguished from seizures of epilepsy. For this purpose, the patient undergoes electroencephalography. In some controversial cases, CT or MRI of the spine is performed to exclude deviations and pathologies of the spine.

Treatment of Gamstorp’s disease
Therapeutic treatment of Harmstorp’s disease consists, first of all, in limiting the intake of potassium into the patient’s body. First of all, it concerns eating.

It is necessary to exclude from the diet potassium containing products — milk, fermented milk products, cheese, dried fruits, prunes. A special diet with a high content of salt and carbohydrates is attributed to the patient. Fractional meals are recommended in small portions, but with frequent meals in order to eliminate the feeling of hunger. The patient must develop an individual diet for life.
Diuretics (furosemide) are prescribed for additional potassium withdrawal from the body. Seizures are interrupted by injections of insulin and forty milliliters of 40% glucose solution or 20 milliliters of 20% calcium solution.
Sometimes inhalations with salbutomol are prescribed, which have a positive effect on the interruption and prevention of seizures.
To prevent Harmstorp disease, it is necessary to control the level of potassium in the blood of people whose family history of diseases includes this disease.

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