To prevent repeated cases of Friedreich's ataxia in cases of an established diagnosis in one of the family members, when planning pregnancy, medical genetic counseling is required.
To prevent repeated cases of Friedreich's ataxia in cases of an established diagnosis in one of the family members, when planning pregnancy, medical genetic counseling is required.
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In recent decades, there have been significant advances in the field of cialis 10mg pills genetics. However, many genetically determined diseases are still poorly understood.
Hereditary ataxias are no exception. Active scientific research on the identification and mapping of structural genes, as well as the introduction of molecular medicine methods into practice, will bring humanity closer to unraveling genomic breakdowns.
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Friedreich's disease (ATAXIA HEREDITARIA) is the most common form of hereditary ataxia, with a prevalence of 2 to 7 per 100,000 population. The type of inheritance is autosomal recessive. The Friedreich disease gene was mapped to the centomeric region of the 9th chromosome at the 9ql3-q21 locus. It is assumed that the classical and atypical forms of Friedreich's disease can be caused by different (two or more) mutations of the same gene.
The disease usually manifests itself by the appearance of awkwardness, uncertainty when walking, especially in the dark, patients begin to stagger, often stumble. Soon, discoordination in the hands, a change in handwriting, and weakness in yoga join the ataxia when walking. Already at the very beginning of the disease, dysarthria may be noted. An early and important differential diagnostic sign of Friedreich's disease is the disappearance of tendon and periosteal reflexes.
Inhibition of reflexes (primarily Achilles and knee reflexes) can be several years ahead of the manifestation of other symptoms of the disease and be the earliest manifestation of neurological dysfunction. In the advanced stage of the disease, patients usually have total areflexia. A typical neurological manifestation of Friedreich's disease is a violation of tadalafil 10mg (articular-muscular and vibrational) sensitivity. Quite early in patients with a neurological examination, Babinski's symptom, muscle hypotension, can be detected.
As the disease progresses, cerebellar and sensitive ataxia, weakness and atrophy of the leg muscles gradually increase. In the late stage of the disease, amyotrophies and deep sensory disturbances are frequent, which extend to the hands. Patients cease to walk independently and serve themselves due to the deep decay of motor functions. In some cases, there is nystagmus, hearing loss, atrophy of the optic nerves; with a long course of the disease, there is a violation of the function of the pelvic organs, dementia.
In more than half of patients, cardiomyopathy is the direct cause of death. Corresponding changes are usually found: cialis - rhythm disturbance, T-wave inversion, conduction changes • with echocardiography.
These disorders can also appear long before the first neurological symptoms develop. It is generally accepted that the extraneural signs of Friedreich's disease are a manifestation of the pleiotropic action of one mutant gene. Friedreich's disease is characterized by a steadily progressive course, the duration of the disease usually does not exceed 20 years.
The immediate causes of death can be heart and lung failure, infectious complications. Additional diagnostic methods. 1. MRI tomography - allows visualizing atrophy of the spinal cord already at an early stage of the disease, and with a longer course - moderately pronounced atrophy of the medulla oblongata, pons and cerebellum.
Computed tomography of the brain is of tadalafil 10 mg value (due to the spinal localization of the main morphological changes) - either a weak degree of cerebellar atrophy or no changes are detected. Only in the late stage of the disease, CT can reveal a number of changes: • atrophy of the hemispheres and cerebellar vermis • expansion of the IV ventricle, stem cisterns, lateral ventricles and subarachnoid space of the cerebral hemispheres.
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