Symptoms of DMD Gene Muscular Dystrophy Duchenne Type Genetic Test Duchenne Muscular Dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness. It is caused by an absence of dystrophin, a protein that helps keep muscle cells intact. DMD symptom onset is in early childhood, usually between ages 3 to 5. The […]
Neurology Diseases
Symptoms and Testing information for GFPT1 Gene Myasthenia Congenital with Tubular Aggregates 1 Genetic Test
Understanding the complexities of genetic disorders is crucial in the field of medical science. Among these, GFPT1 Gene Myasthenia Congenital with Tubular Aggregates 1 is a condition that demands attention due to its impact on muscle function. This disorder, though rare, can significantly affect the quality of life of those diagnosed with it. DNA Labs […]
Symptoms and Testing information for CAPN3 Gene Muscular Dystrophy Limb-Girdle Type 2A Genetic Test
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. […]
Symptoms and Testing information for MUSK Gene Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency Genetic Test
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 […]
Symptoms and Testing information for PLEC Gene Muscular Dystrophy Limb-Girdle Type 2Q Genetic Test
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 and Testing information for SCN4A Gene Myasthenic Syndrome Due to Mutation in SCN4A Genetic Test
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 […]
Symptoms and Testing information for PABPN1 Gene Muscular Dystrophy Oculopharyngeal Genetic Test
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 and Testing information for RXYLT1 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies Type A10 Genetic Test
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 and Testing information for B4GAT1 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies Type A13 Genetic Test
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 […]
Symptoms and Testing information for POMT2 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies Type A2 Genetic Test
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 […]