Manifestations and therapy of the disease Fazio-Londa

Disease Fazio-Londa – pathology, which refers to spinal muscular atrophy, an incurable disease, the main symptom of which is complete immobility of the muscles. The second name for this disease – mg muscular atrophy of childhood.

Is relatively rare. The first symptoms begin to appear at age 2 – 3 years, is more severe and often fatal.

The disease was described in the XIX century by two doctors from Italy and France. Mainly affects children aged 2 to 12 years. All the symptoms are rapidly progressing, particularly affected nuclei of cranial nerves XII, XI, X, VII, V, VI and III less pair.

The reason

The main cause – heredity. And most of the parents of these children the disease is not detected, but they are carriers of the mutant gene. When two such gene found – one from the father, one from mother, a child is born with any option muscular atrophy.

Symptoms begin to appear when there is a deficiency of the protein SMN, which affects the efficiency of the motor neurons of the anterior horns of the spinal cord. The pathogenesis of the disease was identified only in 1995. The defeat of neurons leads to the fact that the muscles of the body do not receive commands to reduce, that is no longer able to perform its function.


All of the symptoms will depend on how much and how fast is the damage of cranial nerve nuclei. In order to understand the basic manifestations of disease, should know how to answer these nerves.

  1. XII pair is responsible for the language, called the hyoid. Patients appears impaired speech, inability to swallow food. Their language becomes completely paralyzed and unable to perform its function.
  2. XI – accessory nerve. When it is defeated it is impossible to turn your head to the side, raise the shoulders, connect the blades.
  3. A pair of X – the vagus nerve. When the defeat of the disturbed innervation of the head, neck and many internal organs, including the heart, stomach and intestines.
  4. Vapor VII innervates the facial nerve. When the lesion is disturbed facial expressions.
  5. V pair – the trigeminal nerve. Is the largest of all, and with the defeat occur in different inflammatory diseases of the face.

Sometimes there is a loss and the other two pairs of cranial nerves VI and III pair. In the first case, it becomes impossible to move the eyeball. In the second case, the pupil stops reacting to light and it becomes impossible to lift the eyelids.

The symptoms are initially subtle, but quickly progressing. Death occurs within a year from the beginning of the first manifestations. Sometimes death occurs on the 8th year of the disease. All this time the child remains practically confined to bed. Behind it requires careful daily care.

Key diagnostic features

Disease Fazio-Londa as other spinal muscular atrophy, diagnosed by various methods.

However, to distinguish the disease from other pathologies that can have similar symptoms, you should know the main diagnostic features are:

  1. Autosomal recessive type of inheritance.
  2. The first symptoms in early childhood.
  3. Muscle weakness and the inability to control their actions.
  4. Characteristic changes in the electromyography.
  5. Atrophy of muscle fibers.
  6. Full health of the pelvic organs.
  7. A positive result in the molecular genetic study.


Treatment should be comprehensive, lasts throughout life and not be interrupted. Full recovery never comes. The only way to prolong life is to apply physical therapy, medications, and if necessary to transfer the patient on artificial lung ventilation.

From physiotherapy is recommended elektroforez, sinusoidal currents, electrical stimulation, mud applications. Therapeutic exercise helps to get rid of complications that can be caused by a sedentary lifestyle.

Medication is only administered by your doctor. Medications are chosen strictly individually depending on the age and General condition of the patient, taking into account all indications and contraindications.

The main treatment – vitamins that can be applied in the form of solutions. This thiamine, nicotinic acid, cyanocobalamin, pyridoxine, vitamin E. be Sure to apply nootropics, coenzyme Q, Cerebrolysin.

Gene therapy and stem cell therapy are still in development.

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