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Rett syndrome
The Rett syndrome is a complex developmental disorder that primarily affects the central nervous system and has a significant impact on children’s development. The consequences of this condition include delayed motor development and intellectual disability, which affect the child’s quality of life and future. The most characteristic feature of Rett syndrome is that it occurs almost exclusively in girls, as the inheritance is linked to the X chromosome. In boys, the disease rarely develops because a defect in the X chromosome can have severe consequences for the developing fetus. The genetic defect that causes Rett syndrome usually appears as a new mutation and is not inherited from the parents. As…
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Osteogenesis imperfecta – The child with fragile bones
Osteogenesis imperfecta, also known as brittle bone disease, is a hereditary disorder characterized by the weakness and fragility of bones. The name refers to the nature of the disease, where the tissues of the bones are unable to regenerate properly, leading to frequent fractures. OI encompasses a complex group of disorders that include various types of hereditary defects and are associated with severe abnormalities in bone metabolism. The term “brittle bone” indicates the nature of the disease, as the bones of affected individuals are as fragile as glass. This condition is relatively rare, with estimates suggesting that only one in 30,000 newborns is affected, regardless of gender. The prevalence and…
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The Genetic Background of Endometriosis
The research on women’s reproductive health is increasingly coming to the forefront, as various conditions such as endometriosis affect the lives of many women worldwide. Endometriosis is a complex and often painful disease that places tissue similar to the inner lining of the uterus outside the uterine cavity. Continued scientific research is essential for understanding and treating this disease, which can help improve diagnosis and therapies. The prevalence of endometriosis among women of reproductive age is notable, affecting 6-10% of these women. The disease poses not only physical but also emotional and mental challenges, as pain and symptoms can significantly impact daily quality of life. Researchers aim to gain deeper…
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The Importance of the Restart of SMA Screening in Hungary
The spinal muscular atrophy (SMA) is a rare genetic disorder that can severely impact the lives of children. The disease manifests in some infants, thus deserving attention from families and healthcare professionals. Among genetic disorders, SMA requires special attention as early detection and treatment can be crucial for the quality of life of children. Emphasizing the importance of prevention and screening is essential, as the disease can have serious consequences if not detected in time. Screening plays a significant role in ensuring that families are informed about the disease in a timely manner, allowing for early intervention. With this approach, both parents and doctors can prepare for the necessary actions.…
