genetic tests Archives

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 ...

Oct272023 by AdminNo Comments

Rare Infectious Diseases: Diagnosing and Managing

Diseases

Infectious diseases are an ever-evolving and changing field of medicine. Scientists and healthcare professionals may encounter common pathogens as well as rare and unknown pathogens. These rare infectious diseases can present special challenges in diagnosis and treatment. This article will provide detailed information about the diagnosis and management of rare infectious diseases. Diagnosis of Rare Infectious Diseases 1. Diagnosis of Genetic and Unknown Diseases Many rare infectious diseases are based on genetic factors and can lead to rare syndromes. Genetic tests, analysis of tissue samples and evaluation of family history are important in the diagnosis of such diseases. Additionally, molecular techniques and advanced imaging methods can be used in the diagnosis of infections o...

Oct242023 by AdminNo Comments

The Role of Genetic Factors in Disease Development

Diseases

Genetic factors are one of the key components that have a significant impact on an individual's health. Genes regulate a person's bodily functions, determine their physical characteristics, and potentially affect their susceptibility to disease. In this article, we will examine the role of genetic factors in disease development. The impact of genetic factors on disease development is a complex concept. It will be explained through both monogenic diseases and polygenic diseases. Monogenic Diseases and Genetic Predisposition Monogenic diseases are diseases in which a single genetic change (mutation) causes the development of a disease. Examples of such diseases include cystic fibrosis, sickle cell anemia, and Huntington's disease. The development of these diseases depends on the prese...

Oct12023 by Admin1 Comment

Rare Genetic Diseases: Diagnosis and Treatment Problems

Diseases

Rare genetic diseases affect a small patient population worldwide. They are conditions that have a genetic basis and often lead to serious health problems. In this article, we will discuss the difficulties encountered in the diagnosis and treatment of rare genetic diseases. We will examine the progress in this field. Diagnosing and treating rare genetic diseases can be a huge challenge for both patients and healthcare professionals. I. Diagnostic Challenges Heterogeneity: Rare genetic diseases have great heterogeneity. The fact that the same disease can occur with different symptoms in different individuals complicates accurate diagnosis. Diagnostic Delays: Symptoms of rare diseases can often be confused with symptoms of other common diseases. Therefore, long periods may be...

Aug262023 by AdminNo Comments

Rare Diseases: Diagnosis, Treatment and Patient Advocacy

Diseases

Diseases are widely known and treated around the world, with access to many resources and experts. However, rare medical conditions called rare diseases are health problems that are often overlooked and little known. In this article, we will discuss the diagnosis, treatment and patient advocacy of these diseases. Diagnosis of Rare Diseases Diagnosing these diseases often requires a long and complex process. In many cases, the symptoms of these diseases are similar to other common diseases, making diagnosis difficult. The diagnostic process consists of the following stages: 1. Genetic Tests: Since most rare diseases are of genetic origin, DNA analyzes and genetic tests are important in diagnosing the disease. 2. Expert Opinions: Diagnosis of rare diseases is made by clini...