The prevalence of autosomal recessive Friedreich's ataxia among the Yakut population of PC (Y) is 2.8 per 100 thousand population. The molecular genetic cause of AF in Yakuts is the expansion (GAA) of n repeats in intron 1 of the FRDA gene. In the uluses of Vilyui and central Yakutia, isolated cases of Lyrica recessive Friedreich's ataxia without accumulation in individual uluses have been registered. An interesting fact is that the disease was registered in the Yakut ethnic group, which is a representative of the Asian race, among which there were no cases of Friedreich's ataxia previously registered. study.
Friedreich's disease belongs to the group of hereditary neurodegenerative diseases. It is characterized by the presence of ataxia (impaired coordination), the hereditary nature of transmission, and the multiplicity of clinical manifestations. Without treatment, pathology quickly leads to disability of Pregabalin 75 mg, so the timely diagnosis of Friedreich's ataxia is of great socio-economic importance. Description of Friedreich's ataxia.
Friedreich's ataxia refers to diseases with a hereditary nature of Pregabalin: the cause is a gene defect that is located on the short arm of the ninth chromosome.
nervous; pancreas that produce insulin (a hormone that regulates glucose metabolism in the body); visual analyzers. In addition, the fibers of the heart muscle - myocardium, as well as the musculoskeletal system, suffer. The prevalence of pathology is 2-7 cases per 100 thousand people. It occurs equally often among both men and women. Representatives of the Negroid race do not suffer from this disease. How Friedreich's hereditary ataxia is transmitted - video.
In patients, the synthesis of the frataxin protein, which is responsible for iron metabolism at the cellular level, is disrupted. Frataxin plays an important role in the work of the main energy stations of Lyrica - mitochondria. The following cells are damaged: The mechanism of transmission of the disease by inheritance.
The clinical picture was described by the German physician Nikalaus Friedreich back in 1860, and to this day the disease bears his name. The debut most often occurs in the second decade of life, the first symptoms usually occur in the prepubertal period (7-13 years). The anatomical basis of Friedreich's ataxia is the degeneration of the posterior and lateral columns of the spinal cord, where the nerve fibers pass, providing the implementation of various types of sensitivity and motor functions. Especially noticeable changes in the lumbosacral region.
Friedreich's disease is the most common form of hereditary ataxia. The disease is transmitted by an autosomal recessive mechanism. This means that the development of pathology requires the presence of two identical copies of the defective gene. The parents of a patient with Friedreich's ataxia will be healthy if they are considered heterozygous, that is, they have one healthy gene and one defective (do not give clinical manifestations). Clinical manifestations of Friedreich's family ataxia.
There are various variants of mutations in the gene encoding the synthesis of frataxin, which is why the symptoms can be extremely diverse. A typical picture of the disease includes damage to the visual analyzer and a large number of Lyrica systems: nervous; endocrine; cardiovascular; musculoskeletal. Visual disturbances in Friedreich's ataxia are relatively rare and may include refractive errors, retinopathy pigmentosa, and cataracts.
In some patients, Friedreich's ataxia leads to the development of cataracts. The atypical form is characterized by a more favorable course. Sometimes a disease begins with a set of symptoms, which is due to the multiple action of a gene, when one gene encodes several traits (forms of a protein). Often, a patient can be under the supervision of a narrow specialist for a long time, unaware of the presence of a hereditary pathology.
The patient may experience the following signs of damage to the nervous system: unsteadiness of gait (ataxia); speech defects - dysarthria; pyramidal (paresis) and extrapyramidal (impaired coordination) symptoms; deterioration in sensitivity; decrease and disappearance of deep reflexes (usually manifested in thequeue); violation of the functions of the pelvic organs (difficulties in urination and defecation). Other manifestations characteristic of Friedreich's ataxia are called extraneural.
Friedreich's foot is a typical manifestation of the disease, including a change in the shape of the arch of the foot, hyperextension in the proximal phalangeal joints and flexion in the interphalangeal. It should be noted that such foot deformities are not characteristic only of Friedreich's ataxia, they are also found in other hereditary pathologies (Charcot-Marie spinal atrophy, etc.). A typical musculoskeletal deformity is Friedreich's foot. Deformities of the phalanges of the hands and feet. Scoliosis.
Even despite ongoing therapeutic measures, Friedreich's ataxia is characterized by steady progression - 50% of patients do not live to be 35 years old. Death can occur due to the development of respiratory or heart failure. Prevention is based on medical genetic consultation. Genetic testing of future parents and prenatal diagnostics are currently being carried out. By amniocentesis or cordocentesis, a study of the biological material of the fetus is carried out.
Lyrica - puncture of the fetal bladder in order to obtain cells of the fetal membrane of the chorion, containing the genetic material of the fetus. Cordocentesis - puncture of the umbilical cord. In this way, the birth of a sick child can be prevented. Friedreich's ataxia is a severe hereditary disease that affects many organs and systems. The approach to treatment requires the coordinated actions of doctors of various specialties (neurologist, cardiologist, endocrinologist, and others). Careful attitude to one's health will help the patient to maintain the quality of life.
Atopic dermatitis is a chronic non-contagious inflammatory skin lesion that occurs with periods of exacerbations and remissions. It is manifested by dryness, increased skin irritation and severe itching. It causes physical and psychological discomfort, reduces the patient's quality of life at home, family and at work, outwardly presents cosmetic imperfections. Continuous scratching of the skin leads to its secondary infection.