Disorders of coordination of movements are found in various diseases of the central nervous system. All of them are associated with disorders in the structure of the cerebellum. Most often, such pathologies are genetic in nature and are inherited. One such anomaly is Friedreich's disease. This pathology is considered quite common compared to other chromosomal defects. In addition to the nervous system, it extends to other organs. First of all, this applies to the heart and muscles. Compared to other ataxias, this disease cannot be diagnosed at an early age, as it does not become apparent until the age of 20.
Friedreich's pathology - what is it?
Friedreich's disease is a neurological disorder that belongs to genetic pathologies. It is very difficult to suspect this anomaly in advance, since it does not manifest itself in any way in childhood. The disease often runs in families. Therefore, with such disorders, pregnant women need to undergo a complete genetic examination.
History and spread of pathology
Friedreich's Ataxiawas 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. You can also trace the relationship between the disease and the ethnicity of patients. Most often, this pathology occurs in people born from consanguineous marriages. For the same reason, it is more common among small ethnic groups. Compared to other ataxias, Friedreich's disease is fairly common. It occurs in 1-7 people per 100,000 people. At present, it is already known which genetic disorders lead to this pathology, therefore, with a burdened hereditary history, it can be diagnosed at the stage of intrauterine development of the fetus.
Causes of Friedreich's disease
To understand where Friedreich's 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 in an autosomal recessive manner through generations. Therefore, the disease can often be found in several family members. With the conception of children from related marriages, the frequency of occurrence of this pathology increases. Therefore, such families need a more thorough examination when planning a child. Scientists have found that all patients with this disease have a genetic defect in the ninth chromosome. If one of the parents has such an anomaly, then the chance that the child will be sick is 50%. Despite the hereditary nature of the disease, there areprovoking environmental factors that can cause chromosome mutations during embryogenesis. These include: bad habits (drug addiction, alcoholism), radiation, stressful situations.
Pathogenesis of Friedreich's anomaly
The main manifestation of the disease is cerebellar ataxia. It occurs due to 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 body ceases to produce a substance - frataxin. As a result, cells accumulate an increased amount of iron. This triggers the next pathological process - the accumulation of free radicals and lipid peroxidation. As a result, the destruction of cell membranes and nervous tissue occurs. Most often, this process affects the posterior horns 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 also affected: the anterior horns, peripheral fibers, and the central nervous system. Most often, degeneration does not cover the cranial nerves and vital centers (respiratory, vascular). In rare cases, visual and hearing disorders are observed.
In addition to neurological symptoms, there are changes in the skeletal system. Often in patients with Friedreich's anomaly, there is a curvature of the spine and deformity of the feet. In addition, the pathological process captures the heart muscle. In this case, normal cardiomyocytes are replaced by fibrous and fattycloth.
Clinical picture of the disease
Based on the pathogenesis of the disease, the clinical picture depends on the extent of damage to the structures of the spinal cord and brain. The typical syndrome is ataxia. But in some cases, there are other violations. If Friedreich's disease is diagnosed, the symptoms of the pathology are as follows:
- Cerebellar ataxia. This syndrome appears in patients around the age of 20. Its main manifestations are a change in gait, unsteadiness, nystagmus. On neurological examination, patients are unable to perform a heel-knee test and are unstable in the Romberg position.
- Muscular hypotension. Along with the change in gait, there is progressive weakness in the legs. Later, the process also passes to the muscles of the upper shoulder girdle. It is difficult for patients to keep 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.
- Hyperkinesis. Due to 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 may be violations of facial expressions - tics.
- Disorders of the musculoskeletal system. Patients often have scoliosis and other curvature of the spine. Due to the “looseness” of the joints of the lower extremities, the deformity of the foot characteristic of this pathology occurs. At the same time, its arch deepens, and the proximal phalanges turn out.
- Gradual decrease in tendon reflexes.
- Handwriting change.
- Hypertrophic cardiomyopathy. This syndrome is observed in almost all patients (90% of cases). Clinically, it is manifested by deafness of heart sounds during auscultation, an increase in the size of the heart and the appearance of a systolic murmur. At the same time, the person complains of pain in the chest area, shortness of breath.
Less typical symptoms are sensory disturbance, ophthalmoplegia, ptosis. Sometimes degenerative processes capture the auditory and optic nerve. This causes hearing loss, blindness.
Diagnostic criteria for Friedreich's ataxia
Suspicion of Friedreich's disease is not difficult for an experienced neurologist. First of all, the doctor draws attention to the fact that violations begin at a certain age. Usually in childhood and adolescence, complaints are completely absent. In addition, during the collection of anamnesis, there is often a connection between the disease and hereditary factors (marriages among relatives, ataxia in one of the family members). If Friedreich's disease is detected, the diagnosis by a neurologist will proceed according to the following scheme (points that the doctor pays attention to):
- Muscle weakness (often in the lower extremities).
- Reduced tendon reflexes.
- Shaky Romberg position.
- Horizontal nystagmus.
- Unable to perform a heel-knee test.
- Paresis and paralysis (rare).
- Hyperkinesis.
In addition, an examination by a surgeon is required. The doctor determines violations of the osteoarticular system of the lower extremities, curvature of the spinal column. If this pathology is suspected, an examination by an ophthalmologist and a cardiologist is also necessary.
The main diagnostic method is genetic analysis, during which a chromosomal abnormality is detected. Brain MRI 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's disease: treatment of pathology
Despite the fact that neurology as a science is now quite well developed, this disease cannot be completely cured. This is due to the fact that its cause is a genetic mutation that cannot be affected. Nevertheless, doctors are correcting neurological disorders, making life easier for patients. Antioxidants are used (drug "Mexidol"), means to improve cerebral circulation (drugs "Piracetam", "Cerebrolysin"). These medicinal substances can slow down degenerative processes. To improve motor function, physiotherapy, orthopedic correction, and massage are carried out. In some cases, surgical treatment is necessary (with a significant curvature of the feet).
Disease prevention andcomplications
Unfortunately, it is impossible to foresee the development of Friedreich's disease in advance. However, pathology does not apply to very rare anomalies. Therefore, with a burdened hereditary history in a pregnant woman, it is necessary to conduct a genetic analysis of the fetus.
To prevent the development of complications in patients with Friedreich's pathology, constant monitoring by doctors is necessary. Despite the fact that the violation refers to neurological problems, the supervision of a surgeon, cardiologist, oculist and geneticist is also important. To avoid the rapid progression of the disease, maintenance therapy is carried out. Patients also need special care and support from loved ones.
Prognosis for Friedreich's disease
Given that the pathology refers to slowly progressing chromosomal abnormalities, patients live an average of 30-40 years. Most often, neurological disorders do not affect the mental abilities and vital structures of the brain. However, patients require constant medical supervision. Also, patients should engage in physiotherapy exercises to maintain muscle tone. The most common cause of death is cardiovascular disease. Hypertrophic cardiomyopathy leads over the years to congestive heart failure, resulting in Friedreich's disease. Photos of patients with this pathology can be seen in this article and special literature.
