Motion coordination disorders 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 of these abnormalities is Friedreich's disease. This pathology is considered quite common in comparison with other chromosomal defects. In addition to the nervous system, it spreads to other organs. This primarily concerns the heart and muscles. Compared with other ataxia, this disease can not be diagnosed at an early age, since it makes itself felt only by 20 years.
Friedreich 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, since it does not manifest itself in any way in childhood. The disease is often family-related. Therefore, with such violations, pregnant women need to undergo a full genetic examination.
History and distribution of pathology
Ataxia of Friedreich was first identified as an independent disease in the 60s of the XIX century. Then 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 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 burdened hereditary history, it can be diagnosed at the stage of fetal development.
Causes of Friedreich's Disease
To understand where Friedreich’s disease comes from, how it is transmitted and spread, you need to know the etiology of this anomaly. This pathology refers to hereditary chromosomal defects. It is transmitted along an autosomal recessive trait through generations. Therefore, the disease can often be detected in several family members. With the conception of children from kinship, the frequency of the appearance 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 are provocative environmental factors that can cause chromosome mutations during embryogenesis. These include: bad habits (drug addiction, alcoholism), radiation, stressful situations.
Friedreich anomaly pathogenesis
The main manifestation of the disease is cerebellar ataxia. It occurs due to the gradual degeneration of cells of the nervous system. The mechanism of damage lies in the fact that due to the mutant gene contained in the 9th chromosome, the substance ceases to be produced in the body - frataxin. As a result, cells accumulate an increased amount of iron. This starts the next pathological process - the accumulation of free radicals and lipid peroxidation. As a result, cell membranes and nerve tissue are destroyed. 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 a coordination disorder occurs. In some cases, other brain structures are affected: the front 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, changes in the skeletal system occur. Often in patients with Friedreich anomaly, curvature of the spine and deformation of the feet are observed. In addition, the pathological process captures the heart muscle. In this case, normal cardiomyocytes are replaced by fibrous and adipose tissue.
The clinical picture of the disease
Based on the pathogenesis of the disease, the clinical picture depends on the degree of prevalence of damage to the structures of the spinal cord and brain. A typical syndrome is ataxia. But in some cases, other violations are observed. If Friedreich's disease is diagnosed, the symptoms of pathology are as follows:
- Cerebellar ataxia. This syndrome appears in patients around the age of 20. Its main manifestations are gait changes, shakiness, nystagmus. During a neurological examination, patients cannot perform a heel-knee test and are unstable in the Romberg position.
- Muscle hypotension. Along with a change in gait, there is a progressive weakness in the legs. Later, the process goes to the muscles of the upper shoulder girdle. It is difficult for patients to hold the limbs in a certain position. This leads to joint weakness and pathological extension of the limbs ("Friedreich foot"). In some patients, the opposite phenomenon is observed - muscle spasm, paresis.
- Hyperkinesis. Due to damage to the pyramidal system of the brain in patients with Friedreich's disease, tremor of the head and limbs is observed. Sometimes violations of facial expressions are possible - tics.
- Disorders of the osteoarticular system. Patients often show scoliosis and other curvature of the spine. Due to the "looseness" of the joints of the lower extremities, a foot deformity characteristic of this pathology occurs. At the same time, its arch is deepened, and the proximal phalanges are inverted.
- 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 heart size and the appearance of systolic murmur. In this case, a person complains of chest pain, shortness of breath.
Less typical symptoms are a violation of sensitivity, ophthalmoplegia, ptosis. Sometimes degenerative processes capture the auditory and optic nerves. In this case, hearing loss, blindness occurs.
Diagnostic criteria for Friedreich's ataxia
Suspecting Friedreich's disease is not a big deal 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 an anamnesis, a connection is often observed 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 take place according to the following scheme (the points that the doctor draws attention to):
- Muscle weakness (usually on the lower extremities).
- Decreased tendon reflexes.
- A precarious position in the Romberg position.
- Horizontal nystagmus.
- Inability to perform a heel-knee test.
- Paresis and paralysis (rare).
- Hyperkinesis.
In addition, a surgeon examination is required. The doctor determines violations of the osteoarticular system of the lower extremities, curvature of the spinal column. If you suspect this pathology, an examination by an ophthalmologist and cardiologist is also necessary.
The main diagnostic method is a genetic analysis, during which a chromosomal abnormality is detected. Brain MRIs are also performed.
Friedreich's disease: ICD code 10
Despite the clinical diagnosis, each pathology must be recorded according to international nomenclature. ICD-10 Friedreich's disease 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 currently 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 influenced. Nevertheless, doctors correct neurological disorders, making life easier for patients. Antioxidants are used (Mexidol medication), drugs to improve cerebral circulation (Piracetam, Cerebrolysin preparations). These medicinal substances can slow down degenerative processes. To improve motor function, physiotherapy, orthopedic correction, massage. In some cases, surgical treatment is necessary (with significant curvature of the feet).
Prevention of disease and complications
Unfortunately, it is impossible to foresee the development of Friedreich's disease. 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 pathology, constant monitoring by doctors is necessary. Despite the fact that the violation refers to neurological problems, it is also important to observe a surgeon, cardiologist, optometrist and geneticist. To avoid the rapid progression of the disease, maintenance therapy is performed. Also, patients need special care and support from loved ones.
Fredreich disease prognosis
Given that pathology refers to slowly progressing chromosomal abnormalities, patients survive on average up to 30–40 years. Most often, neurological disorders do not affect the mental abilities and vital structures of the brain. Nevertheless, patients require constant monitoring by doctors. Also, patients should engage in physical therapy to maintain muscle tone. Most often, the cause of death is a violation of the cardiovascular system. Hypertrophic cardiomyopathy over the years leads to congestive heart failure, the result of which is Friedreich's disease. Photos of patients with this pathology can be seen in this article and in the specialized literature.