Walker-Warburg Syndrome (WWS) and Muscle-Eye-Brain Disease (MEB) are severe forms of congenital muscular dystrophies associated with brain and eye abnormalities. These conditions are linked to mutations in several genes, including the FKRP gene (Fukutin-Related Protein). Understanding the symptoms and genetic testing options for these diseases is crucial for early diagnosis and management. DNA Labs UAE […]
Understanding the genetic underpinnings of various diseases is a crucial step towards effective diagnosis and treatment. One such condition that has been the focus of recent genetic studies is the Essential Tremor (ET), a neurological disorder that causes involuntary and rhythmic shaking. It can affect almost any part of the body, but the trembling occurs […]
Warburg Micro Syndrome is a rare genetic disorder that significantly impacts the development and function of various parts of the body. This condition is characterized by a wide range of symptoms, primarily affecting the eyes, brain, and reproductive organs. One of the genes associated with this syndrome is RAB3GAP1, and mutations in this gene lead […]
Symptoms of TSC1 Gene Tuberous Sclerosis Genetic Test Tuberous Sclerosis Complex (TSC) is a genetic disorder that affects multiple systems of the body, leading to the growth of benign tumors in organs such as the brain, kidneys, heart, lungs, and skin. It is caused by mutations in either the TSC1 or TSC2 genes. The TSC1 […]
Tuberous Sclerosis Complex (TSC) is a genetic disorder that affects multiple systems of the body, leading to the growth of benign tumors in organs such as the brain, kidneys, heart, eyes, lungs, and skin. It is caused by mutations in either the TSC1 or TSC2 genes. The TSC2 gene, located on chromosome 16, plays a […]
Ullrich Congenital Muscular Dystrophy (UCMD) is a severe form of muscular dystrophy characterized by muscle weakness, joint stiffness, and developmental challenges. This condition is primarily caused by mutations in the COL6A1 gene, among others, which play a crucial role in maintaining the structural integrity of muscle and connective tissues. Understanding the symptoms and undergoing genetic […]
Ullrich Congenital Muscular Dystrophy (UCMD) is a rare genetic disorder that affects muscle development and function. It is part of a group of disorders known as congenital muscular dystrophies, which are characterized by muscle weakness and degeneration starting early in life. One of the genes associated with UCMD is COL6A2. Mutations in this gene can […]
Ullrich Congenital Muscular Dystrophy Type 1 (UCMD1) is a rare genetic disorder that affects muscle function and development. This condition is caused by mutations in the COL6A3 gene, which plays a critical role in the strength and stability of muscle and connective tissue. Early diagnosis and understanding of the symptoms can greatly assist in managing […]
Symptoms of COL12A1 Gene Ullrich Congenital Muscular Dystrophy Type 2 Ullrich Congenital Muscular Dystrophy Type 2, a rare genetic disorder, is caused by mutations in the COL12A1 gene. This condition is characterized by muscle weakness, joint flexibility issues, and developmental delays in motor skills. Recognizing the symptoms early can significantly impact the management and quality […]
Unverricht-Lundborg disease, also known as Baltic myoclonus or progressive myoclonic epilepsy, is a rare inherited disorder that affects the nervous system. It typically begins in childhood or adolescence and is characterized by episodes of involuntary muscle jerking or twitching (myoclonus), seizures, and, in some cases, a decline in cognitive abilities. The disease is caused by […]
DNA Labs UAE is a leading provider of genomics services in the United Arab Emirates. Our comprehensive range of services includes DNA sequencing, gene expression analysis, and SNP genotyping. With state-of-the-art equipment and a dedicated team of scientists and technicians, we ensure high-quality, accurate, and reliable data.
