a genetic disorder Archives

Feb272024 by AdminNo Comments

A Major Danger in Eye Health: Retinal Problems

Diseases

Eyes have a complex structure that forms the basis of our ability to see. The retina, located within this structure, is an important component that detects light and transmits the image to the brain. However, retinal problems may occur as a result of various factors. Types of Retinal Problems These eye problems can occur due to various factors. The most common retina problems are: Retinal Tears: It is a condition where the retina is torn and requires urgent medical intervention. Retinal Detachment: It is the separation of the retina from the inner surface of the eye and is a serious eye problem. Macular Degeneration: The macula is a central region within the retina. Macular degeneration occurs when this area is damaged and can cause loss of central vision. Retinit...

Jan312024 by AdminNo Comments

SMA Types and Differences: Progression and Treatment

Diseases

Spinal Muscular Atrophy (SMA) is a genetic disorder that affects motor nerve cells. This disorder causes muscle weakness and loss, significantly affecting a person's movement abilities. There are several SMA types, and each is characterized by different symptoms, levels of severity, and prognoses. Types of SMA Type 1: Werdnig-Hoffmann Disease This type usually appears in infancy. Babies experience poor muscle tone, weakness, and a significant loss of movement abilities. Type 1 is the most severe form of SMA and usually shows symptoms in the first 6 months of life. Type 2: Intermediate SMA Intermediate SMA usually occurs between 6 and 18 months. In this type, children can sit up on their own but have limited ability to walk. Type 2 has a milder course and a longer lifesp...

Jan312024 by AdminNo Comments

What is Spinal Muscular Atrophy (SMA)? Symptoms and Diagnosis

Diseases

Spinal Muscular Atrophy is a genetic disease that affects motor neurons in the central nervous system. This condition causes weakness and atrophy of the muscles, limiting the patient's mobility. SMA usually begins in childhood and progresses over time. Causes of SMA SMA usually occurs as a result of a mutation in the SMN1 gene. This gene ensures the healthy functioning of motor neurons in the body. Mutation in the SMN1 gene causes motor neurons to fail to function properly and atrophy over time. Symptoms Symptoms of SMA may vary depending on the patient's age, type and severity of the disease. However, the following symptoms are usually observed: Muscle Weakness: Decreased ability to move and muscle weakness. Muscle Atrophy: Muscles shrink and weaken over time. Loss ...

Jan312024 by AdminNo Comments

Spinal Muscular Atrophy (SMA) Disease

Diseases

Spinal Muscular Atrophy (SMA) is a rare neuromuscular disease. In this article, we will examine detailed information about SMA disease. We will cover many important issues from diagnosis to treatment and improving quality of life. What is Spinal Muscular Atrophy (SMA)? SMA is a genetic disorder that causes the loss over time of motor neurons in the spinal cord, which is part of the central nervous system. These neurons are necessary to move the body's muscles. SMA usually begins in childhood but can last a lifetime. SMA Types There are various types of SMA. These determine the severity and symptoms of the disease. The main types of SMA are: SMA Type 1 (Werdnig-Hoffmann Disease): This most serious type appears in infancy and causes severe muscle weakness in babies at an ear...

Dec302023 by AdminNo Comments

Autism Spectrum Disorder and Genetic Foundations

Special Psychology

Genetic foundations play a critical role in the development of autism. The effect of genetic predisposition becomes more evident in individuals with a family history of autism. In this article, we will discuss the studies carried out to understand the genetic basis of autism and the important findings that emerge. We will examine how genetic factors as well as environmental factors interact to explain different aspects of autism. What is Autism Spectrum Disorder (ASD)? Autism spectrum disorder (ASD) occurs in individuals' social interaction, communication and behavioral skills. It is a complex neurodevelopmental disorder characterized by a range of difficulties. This condition is usually noticed in childhood and shows many different symptoms. Research on the causes of autism shows t...

Dec302023 by AdminNo Comments

Cri-du-chat Syndrome: Deletion in Chromosome 5 and Its Features

Special Psychology

Cri-du-chat syndrome is a genetic disorder that occurs on chromosome 5. In this article, the basic features of the syndrome and the effects of the deletion in chromosome 5 will be discussed. What is Cri-du-chat Syndrome? Cri-du-chat syndrome occurs especially in infancy. It is a genetic condition that involves a number of physical and mental characteristics. This syndrome occurs as a result of the deficiency or deletion of a gene located on chromosome 5. The Effects of Deletion in Chromosome 5: In Cri-du-chat syndrome, the loss of a specific region on chromosome 5 affects the development of the individual. This syndrome is typically recognized by a characteristic feature in which the baby's cry resembles a sound like a cat's meow. In addition, individuals may experience a numb...

Dec292023 by AdminNo Comments

Effects of Changes in Chromosomes on Human Health

Diseases

The human body stores genetic information through chromosomes, one of the basic structural units that carry genetic information. However, changes in these chromosomes can affect an individual's health and cause various genetic diseases. In this article, we will discuss in detail the effects of chromosome abnormalities on human health. From numerical changes such as trisomy and monosomy to structural changes such as deletions and duplications. Changes in Chromosomes and Genetic Structure Human cells contain chromosomes that carry genetic information. Any change in chromosomes affects the genetic structure and causes health problems. Trisomy and Monosomy: Numerical Changes Trisomy refers to the presence of more than normal chromosomes in a chromosome pair. Monosomy represents a ...

Dec292023 by AdminNo Comments

Klinefelter Syndrome: Anomalies in Sex Chromosomes

Special Psychology

Klinefelter syndrome is a genetic disorder and is usually seen in male individuals. This syndrome is characterized by one or both of the individual's sex chromosomes having a different structure than normal. Deviation of genetic material from normal results in a variety of effects, from physical characteristics to language and learning abilities. In this article, we will examine this syndrome in detail. What is Klinefelter Syndrome? Klinefelter syndrome is a genetic condition that usually occurs in men. In this syndrome, one or both of the individual's sex chromosomes have a different structure than normal. XXY Chromosome Structure: Genetic Anomaly Individuals with this syndrome usually have an XXY chromosome structure instead of an XY sex chromosome. This condition is associa...

Dec292023 by AdminNo Comments

Turner Syndrome: Single X Chromosome Anomaly and Its Effects

Special Psychology

Turner syndrome is a genetic disorder that usually occurs in girls. This syndrome is characterized by a fundamental abnormality in the individual's genetic makeup: the presence of only one X chromosome. It is a condition that causes significant changes in physical characteristics. It also manifests itself with various effects on growth, sexual development and fertility. In this article, we will examine the basic features and effects of Turner syndrome in detail. What is Turner Syndrome? This syndrome is a genetic disorder usually seen in girls. In this case, the individual is missing one of the sex chromosomes. So there is usually one X chromosome. Single X Chromosome: At the Basis of Genetic Anomalies This syndrome is usually associated with the individual having only one X c...