ACTA2 gene multisystemic smooth muscle dysfunction syndrome is a rare genetic disorder that affects multiple organ systems within the body. This condition is characterized by a wide range of symptoms, due to the critical role that the ACTA2 gene plays in the function of smooth muscle cells. These cells are found throughout the body, including […]
Neurology Diseases
Symptoms and Testing information for MSTN Gene Muscle Hypertrophy Genetic Test
In the realm of genetic testing, the MSTN gene muscle hypertrophy genetic test stands out for its unique ability to identify individuals who have a genetic predisposition to developing increased muscle mass. This condition, known as muscle hypertrophy, can have a significant impact on an individual’s physical capabilities and overall health. At DNA Labs UAE, […]
Symptoms and Testing information for POMK Gene Muscle-Eye-Brain Disease POMK Related Genetic Test
Symptoms of POMK Gene Muscle-Eye-Brain Disease Muscle-Eye-Brain (MEB) disease is a rare genetic disorder that affects the development of the muscles, eyes, and brain. This condition is caused by mutations in the POMK gene. The symptoms of MEB disease can vary significantly from one individual to another but generally include a combination of muscular, ocular, […]
Symptoms and Testing information for LAMA2 Gene Muscular Dystrophy Type 1A Genetic Test
Muscular dystrophy encompasses a group of genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Among these, LAMA2-related muscular dystrophy, specifically type 1A, is caused by mutations in the LAMA2 gene. This condition has garnered attention within the medical community due to its significant impact on individuals’ quality of […]
Symptoms and Testing information for POLG Gene Mitochondrial Neurogastrointestinal Encephalopathy Syndrome without Leukoencephalopathy Genetic Test
Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) syndrome is a rare genetic disorder that affects various parts of the body, particularly the nervous and digestive systems. This condition is caused by mutations in the POLG gene, which plays a crucial role in the replication and repair of mitochondrial DNA. Unlike the typical form of MNGIE syndrome, there are […]
Symptoms and Testing information for FKRP Gene Muscular Dystrophy Type 1C Genetic Test
Understanding FKRP Gene Muscular Dystrophy Type 1C Muscular dystrophies are a group of genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Among these, FKRP gene muscular dystrophy type 1C, also known as LGMD2I, is a rare form that is caused by mutations in the FKRP gene. This condition […]
Symptoms and Testing information for TYMP Gene Mitochondrial Neurogastrointestinal Encephalopathy Syndrome without Leukoencephalopathy Genetic Test
Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) syndrome is a rare genetic disorder that affects various systems within the body, particularly the nervous and digestive systems. This condition is caused by mutations in the TYMP gene, which plays a crucial role in maintaining the DNA within mitochondria, the energy-producing structures within cells. In some cases, MNGIE syndrome may […]
Symptoms and Testing information for LARGE1 Gene Muscular Dystrophy Type 1D Genetic Test
Muscular dystrophy is a group of genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Among these, LARGE1 Gene Muscular Dystrophy Type 1D is a rare form that has garnered attention due to its unique genetic basis and the specific symptoms it presents. Understanding these symptoms is crucial for […]
Symptoms and Testing information for SDHA Gene Mitochondrial Respiratory Chain Complex II Deficiency Genetic Test
Symptoms of SDHA Gene Mitochondrial Respiratory Chain Complex II Deficiency Mitochondrial diseases are a group of disorders caused by dysfunctional mitochondria, the organelles that generate energy for the cell. One such condition is the deficiency in the mitochondrial respiratory chain complex II, specifically linked to mutations in the SDHA gene. This condition can lead to […]
Symptoms and Testing information for DMD Gene Muscular Dystrophy Becker Type Genetic Test
Muscular dystrophy encompasses a group of genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Among these, Becker Muscular Dystrophy (BMD) is a milder variant of Duchenne Muscular Dystrophy (DMD), with symptoms typically appearing in late childhood to adolescence. Understanding the symptoms and undergoing genetic testing, such as the […]