Friedreich's disease: symptoms, diagnosis, treatment, ICD-10 code

Motion coordination disorders occur in various CNS diseases. All of them are associated with disorders in the structure of the cerebellum. Most often, such pathologies are of a genetic nature and are inherited. One such anomaly is Friedreich's disease. This pathology is considered quite common in comparison with other chromosomal defects. In addition to the nervous system, it extends to other organs. First of all, it concerns the heart and muscles. In comparison with other ataxia, this disease can not be diagnosed at an early age, as it only makes itself felt by the age of 20.

Friedreich's pathology - what is it?

Friedreich's disease is a neurological disorder that relates to genetic pathologies. It is very difficult to suspect this anomaly in advance, as it does not manifest itself in childhood. The disease is often of a family nature. Therefore, with such violations, pregnant women need to undergo a complete genetic examination.

History and spread of pathology

Friedreich's ataxia was first isolated as an independent disease in the 60s of the XIX century. At the same time it was found that the epidemiology of this anomaly is uneven. It is also possible to trace the relationship between the disease and the ethnicity of patients. Most often, this pathology occurs in people born from blood marriages. For the same reason, it is more common among small ethnic groups. Compared to other ataxia, Friedreich's disease is quite common. It occurs in 1-7 people per 100 thousand of the population. At present, it is already known which genetic disorders lead to this pathology, therefore, with a weighed hereditary history, it can be diagnosed at the stage of intrauterine development of the fetus.

Causes of Friedreich disease

To understand where the Friedreich disease comes from, how it is transmitted and spread, it is necessary to know the etiology of this anomaly. This pathology refers to hereditary chromosomal defects. It is transmitted through an autosomal recessive trait through generations. Therefore, the disease can often be found in several family members. At conception of children from related marriages the frequency of appearance of this pathology increases. Therefore, such families need a more thorough examination when planning a child. The scientists found that all patients with this disease have a genetic defect in the ninth chromosome. If one of the parents has found such an anomaly, then the chance that the child will be sick is 50%. Despite the hereditary nature of the disease, there are provoking environmental factors capable of causing chromosome mutations during embryogenesis. These include: bad habits (drug addiction, alcoholism), radiation, stressful situations.

The pathogenesis of the Friedreich anomaly

The main manifestation of the disease is cerebellar ataxia. It arises from the gradual degeneration of the cells of the nervous system. The mechanism of damage is that due to the mutant gene contained in the 9th chromosome, the substance - frataxin - ceases to be produced in the body. As a consequence, cells accumulate an increased amount of iron. This triggers the following pathological process - accumulation of free radicals and peroxide oxidation of lipids. As a result, cell walls and nervous tissue are destroyed. Most often this process affects the horn of the spinal cord and the pyramidal system. These structures are responsible for the motor function of the body, so there is a disorder of coordination. In some cases, other brain structures are affected: anterior horns, peripheral fibers, CNS. Most often, degeneration does not cover the cranial nerves and vital centers (respiratory, vascular). In rare cases, there are visual and hearing disorders.

In addition to neurological symptoms, there are changes in the bone system. Often in patients with Friedreich anomaly, the spinal curvature and deformity of the foot are observed. In addition, the pathological process captures the heart muscle. In this case, normal cardiomyocytes are replaced with fibrous and fat tissue.

Clinical picture of the disease

Based on the pathogenesis of the disease, the clinical picture depends on the prevalence of damage to the structures of the spinal cord and brain. A typical syndrome is ataxia. But in some cases, there are other violations. If Friedreich's disease is diagnosed, the symptoms of pathology are as follows:

1. Cerebellar ataxia. This syndrome occurs in patients about 20 years. Its main manifestations are a change in gait, shakiness, nystagmus. In a neurological examination, patients can not perform a heel-knee test and are unstable in Romberg's position.
2. Muscular hypotension. Along with the change in gait, there is a progressive weakness in the legs. Later the process goes to the muscles of the upper humeral girdle. Patients are difficult to hold limbs in a certain position. This leads to weakness of the joints and pathological extension of the limbs ("Friedreich's foot"). In some patients, the opposite phenomenon is observed - muscle spasm, paresis.
3. Hyperkinesis. Because of the defeat of the pyramidal system of the brain in patients with Friedreich's disease, a tremor of the head and limbs is observed. Sometimes there are violations of facial expressions - tics.
4. Disturbances of the osteoarticular system. Patients often find scoliosis and other curvature of the spine. Because of the "looseness" of the joints of the lower extremities, the deformity of the foot is characteristic for this pathology. At the same time, its arch deepens, and the proximal phalanges are turned out.
5. Gradual decrease of tendon reflexes.
6. Change of handwriting.
7. Hypertrophic cardiomyopathy. This syndrome is observed in almost all patients (90% of cases). Clinically, it is manifested by the deafness of the heart tones during auscultation, the increase in the size of the heart and the appearance of systolic murmur. Thus the person complains of pains in a thoracal area, a dyspnea or short wind.

Less typical symptoms are sensitivity disorders, ophthalmoplegia, ptosis. Sometimes degenerative processes capture the auditory and optic nerve. In this case, there is a decrease in hearing, blindness.

Diagnostic criteria of Friedreich ataxia

It is not difficult to suspect Friedreich's disease for an experienced neurologist. First of all, the doctor pays attention to the fact that violations begin at a certain age. Usually in childhood and adolescence, complaints are completely absent. In addition, during the history of the anamnesis, there is often a link between the disease and hereditary factors (marriages among relatives, ataxia in someone from family members). If Friedreich's disease is detected, the neurologist will have the diagnosis according to the following scheme (points the doctor pays attention to):

1. Muscle weakness (often on the lower limbs).
2. Decreased tendon reflexes.
3. Shaky position in the Romberg pose.
4. Horizontal nystagmus.
5. Inability to perform a heel-knee test.
6. Paresis and paralysis (rare).
7. Hyperkinesis.

In addition, an examination of the surgeon is required. The doctor determines the violations of the osteoarticular system of the lower extremities, the curvature of the spinal column. If this pathology is suspected, an ophthalmologist and cardiologist should also be examined.

The main method of diagnosis is genetic analysis, during which a chromosomal abnormality is detected. MRI of the brain is also performed.

Friedreich's disease: ICD code 10

Despite the clinical diagnosis, each pathology must be registered according to the international nomenclature. Friedreich's disease according to ICD-10 has the code G11.1. This means that, according to the international scale, this pathology has the following name: early cerebellar ataxia.

Friedreich disease: treatment of pathology

Despite the fact that neurology as a science is now quite well developed, this disease can not be completely cured. This is due to the fact that its cause is a genetic mutation, which can not be influenced. Nevertheless, doctors are correcting neurological disorders, making life easier for patients. Antioxidants (medicine "Mexidol"), means for improvement of cerebral circulation (preparations "Piracetam", "Cerebrolysin") are used. These drugs can slow down degenerative processes. To improve the motor function is carried out physiotherapy, orthopedic correction, massage. In some cases, surgical treatment is necessary (with a significant curvature of the feet).

Prevention of disease and complications

Unfortunately, it is impossible to foresee the development of Friedreich's disease. Nevertheless, pathology does not apply to very rare anomalies. Therefore, with a hereditary hereditary history in a pregnant woman, a genetic analysis of the fetus is necessary.

To prevent the development of complications in patients with Friedreich's pathology, constant monitoring of doctors is necessary. Despite the fact that the violation relates to neurological problems, it is also important to observe the surgeon, cardiologist, ophthalmologist and genetics. To avoid rapid progression of the disease, supportive therapy is conducted. Also, patients need special care and support from loved ones.

Prognosis for Friedreich disease

Given that the pathology refers to slowly progressing chromosomal abnormalities, patients survive on average to 30-40 years. Most often neurological disorders do not affect the mental abilities and vital structures of the brain. Nevertheless, patients need constant monitoring of doctors. Also, patients should engage in exercise therapy to maintain muscle tone. The most common causes of death are cardiovascular disorders. Hypertrophic cardiomyopathy over the years leads to congestive heart failure, the result of which becomes Friedreich's disease. Photos of patients with this pathology can be seen in this article and special literature.