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Congenital Spinal Developmental Disorders
The spinal developmental disorders occur during the early stages of fetal development, and the resulting abnormalities can have lifelong effects on the health of those affected. Such disorders impact one of the most important structures of the human body, playing a key role in movement, stability, and the protection of the central nervous system. Types of Spinal Disorders Spinal disorders can manifest in various forms and often cause pain, limited mobility, or other symptoms. The consequences of disturbances during fetal development require continuous attention and treatment throughout life. Spinal exercises and appropriate forms of movement play an important role in alleviating symptoms and maintaining spinal health. The treatment of various…
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Spinal Muscular Atrophy (SMA)
The spinal muscular atrophy (SMA) is a neuromuscular disease with an autosomal recessive inheritance pattern, characterized by the gradual degeneration of the motor neurons in the spinal cord. This disease causes varying degrees of muscle weakness and atrophy, significantly impacting the quality of life of patients. In Hungary, 10-15 new children with SMA are born each year, indicating the relatively rare occurrence of the disease, yet it can have severe effects on the lives of families. The underlying cause of SMA is a defect in the SMN1 (Survival Motor Neuron 1) gene, which plays a key role in the survival of motor neurons. When this gene does not function properly,…
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Klippel-Feil syndrome
The Klippel-Feil syndrome is a rare developmental disorder characterized by anomalies of the cervical vertebrae. As a result of this condition, fusion of two or more cervical vertebrae occurs, which can lead to various restrictions in movement. Those affected often suffer from limited neck mobility, which can have a significant impact on their quality of life. Various physical characteristics can be observed among individuals living with the syndrome, such as a shorter neck and a lower hairline, which are visible symptoms of the condition. Although the presence of Klippel-Feil syndrome may remain unnoticed during childhood, symptoms can worsen in adulthood. According to current medical understanding, the exact cause of the…
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Down Syndrome: The Basics of the Condition and Screening Methods
Down syndrome is a genetic disorder that significantly impacts development and physical appearance. This condition involves an extra chromosome, resulting from trisomy of the 21st chromosome. The disorder affects not only the lives of those directly impacted but also their families, who play a crucial role in understanding treatment options and providing support. The development and needs of children with Down syndrome are unique and can bring many challenges and joys to parents. The prevalence of Down syndrome The occurrence of Down syndrome depends not only on genetic factors but also on various environmental and lifestyle influences. Screening for the disorder during pregnancy allows parents to prepare for future challenges.…
