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I. Introduction In the realm of contemporary medicine, Tay Sachs Disease stands as a noteworthy subject to probe into. This uncommon, genetically transmitted condition continues to pose challenges to healthcare professionals around the globe. The following discourse extensively elucidates upon Tay Sachs disease, spanning its core definition to its potential treatment methodologies. II. Definition of … Read more
Introduction In the increasingly intricate world of behavioural health, an area of burgeoning interest and acute relevance involves the role of genetics in individual susceptibility to addiction. It cannot be understated that the role of genetic predisposition in addiction is a compelling aspect of addiction research and understanding it entails delving deep into a complex … Read more
Introduction Known as an uncommon genetic disorder that typically disturbs the normal growth of nerve cell tissues, neurofibromatosis has been the subject of immense medical research and study. This genetic disease primarily comes in three different types, each with its own unique set of symptoms and potential complications. The Different Types of Neurofibromatosis There are … Read more
Introduction to Neurofibromatosis ICD 10 Neurofibromatosis is a genetic disorder that exposes the nervous system to multiple tumors. The ICD-10-Medical Classification, a universally acknowledged system, categorizes Neurofibromatosis under the code Q85.00 – Q85.09. Understanding Neurofibromatosis Diagnosing Neurofibromatosis involves looking at family history, clinical symptoms, and performing a few diagnostic tests. Broadly, it is bifurcated into … Read more
Introduction Usher syndrome Type 2 is a rare genetic disorder primarily marked by moderate to severe hearing loss at birth, progressive vision impairment in adolescence, and occasional balance problems. Though these symptoms seem ordinary, the implications are far reaching, affecting every aspect of life of those living with this syndrome. This article aims to provide … Read more
We all inherit traits from our parents, but unfortunately, we can also inherit diseases. These are known as Hereditary Diseases. Hereditary diseases, also known as genetic disorders, are diseases that are passed down from one generation to the next through defective genes. Section 1: Understanding Hereditary Diseases and their Impact Hereditary Diseases manifest when an … Read more
Introducing Kallmann Syndrome Having a comprehensive understanding of Kallmann Syndrome is an essential step towards an effective approach to managing the condition. Kallmann Syndrome is a rare genetic disorder characterized by hypogonadotropic hypogonadism and anosmia. Albeit not commonly encountered, its impacts on patients’ lives – particularly on their reproductive health and sense of smell – … Read more
Understanding SMA Genetic Disease Spinal muscular atrophy (SMA) is a genetic disease primarily characterized by the degeneration of motor neurons and progressive muscle wasting. It affects individuals globally, presenting a significant impact on quality of life and life expectancy. Genetics and Pathophysiology of SMA SMA genetic disease is categorized as an autosomal recessive disorder. This … Read more
Introduction to Norrie’s Disease Norrie Disease is a rare genetic disorder that primarily affects the male population. It is mostly characterized by eye abnormalities leading to blindness, mental health impairments, and often, hearing loss. Understanding the intricate aspects of this disease can help us pave the way for improved healthcare solutions and better support for … Read more
Table of Contents Introduction to Turner’s Syndrome Understanding Chromosomal Abnormalities The Role of Chromosomes in Turner’s Syndrome The Symptoms and Diagnosis of Turner’s Syndrome Treatment Options for Turner’s Syndrome Conclusion Introduction to Turner’s Syndrome Turner’s Syndrome, a genetic disorder affecting approximately 1 in every 2,500 female live births worldwide, is a significant topic in the … Read more