Myoclonic dystonia, a disorder characterized by rapid, involuntary muscle contractions (myoclonus) and sustained muscle contractions (dystonia) causing twisting and repetitive movements or abnormal postures, can significantly impact an individual’s quality of life. A genetic link, specifically related to the DRD2 gene, has been identified in some cases of this disorder. DNA Labs UAE offers a […]
Symptoms of EPM2A Gene Myoclonic Epilepsy of Lafora Myoclonic Epilepsy of Lafora, also known as Lafora Disease, is a rare and severe form of progressive myoclonus epilepsy. This genetic disorder is characterized by the presence of Lafora bodies, which are abnormal glycogen inclusions within cells. The disease typically manifests in late childhood or adolescence and […]
Symptoms of CAPN3 Gene Muscular Dystrophy Limb-Girdle Type 2A Limb-girdle muscular dystrophy type 2A (LGMD2A), also known as Calpainopathy, is a form of muscular dystrophy that primarily affects the voluntary muscles around the hips and shoulders (the limb-girdle muscles). It is caused by mutations in the CAPN3 gene, which encodes the muscle-specific enzyme calpain 3. […]
MUSK gene myasthenic syndrome is a rare, genetic condition that affects the communication between nerves and muscles, leading to muscle weakness and fatigue. This condition is associated with a deficiency in acetylcholine receptors, which are crucial for muscle contraction. Understanding the symptoms of this condition is vital for early diagnosis and treatment. At DNA Labs […]
Understanding the intricacies of genetic conditions is crucial for effective diagnosis and management. One such condition that has garnered attention in the medical community is Muscular Dystrophy Limb-Girdle Type 2Q, associated with mutations in the PLEC gene. DNA Labs UAE is at the forefront of offering comprehensive genetic testing services, including the PLEC Gene Muscular […]
Symptoms of SCN4A Gene Myasthenic Syndrome Due to Mutation in SCN4A Genetic Test The SCN4A gene is responsible for encoding the alpha subunit of the voltage-gated sodium channel NaV1.4, which is primarily expressed in skeletal muscle cells. Mutations in the SCN4A gene can lead to a variety of neuromuscular disorders, including the SCN4A gene myasthenic […]
Understanding the symptoms of a genetic condition is crucial for early diagnosis and management. One such condition is Muscular Dystrophy Oculopharyngeal (OPMD), which is associated with mutations in the PABPN1 gene. DNA Labs UAE offers a comprehensive genetic test for this condition, providing insights into your genetic health and guiding you towards appropriate interventions. This […]
Symptoms of RXYLT1 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies Type A10 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies, also known as Type A10, is a rare genetic disorder caused by mutations in the RXYLT1 gene. This condition is part of a group of diseases known as limb-girdle muscular dystrophies, which are […]
Symptoms of B4GAT1 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies Type A13 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies, also known as Type A13, is a rare genetic disorder caused by mutations in the B4GAT1 gene. This condition is part of a group of diseases known as limb-girdle muscular dystrophies, which are […]
Muscular dystrophies are a group of genetic disorders characterized by progressive muscle weakness and degeneration. Among these, the POMT2 gene-related muscular dystrophy, also known as Dystroglycanopathy Congenital with Brain and Eye Anomalies Type A2, is a rare but severe form. This condition is caused by mutations in the POMT2 gene, which plays a crucial role […]
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.
