Myotubular Myopathy (MTM) is a rare genetic disorder that affects muscle strength and tone from birth or early infancy. Specifically, the MTM1 gene mutation leads to X-linked myotubular myopathy, one of the most severe forms of this condition. DNA Labs UAE offers a comprehensive genetic test for those concerned about this condition, providing invaluable insights […]
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Symptoms and Testing information for CNBP Gene Myotonic Dystrophy Type 2 Genetic Test
Myotonic dystrophy type 2 (DM2), also known as proximal myotonic myopathy (PROMM), is a form of muscular dystrophy that affects the muscles and other systems in the body. This condition is caused by mutations in the CNBP gene, which plays a crucial role in muscle function. Understanding the symptoms of CNBP gene myotonic dystrophy type […]
Symptoms and Testing information for DMPK Gene Myotonic Dystrophy Type 1 Genetic Test
Myotonic Dystrophy Type 1 (DM1) is a complex and multi-system genetic disorder, which is characterized by muscle weakness and myotonia. It is caused by a mutation in the DMPK gene, which involves an abnormal expansion of a CTG trinucleotide repeat. The severity and symptoms of the condition can vary widely among individuals, even within the […]
Symptoms and Testing information for CLCN1 Gene Myotonia Congenita Genetic Test
Myotonia Congenita is a genetic disorder that affects muscle relaxation after voluntary contraction, leading to stiffness and delayed muscle relaxation. This condition is primarily caused by mutations in the CLCN1 gene, which plays a crucial role in regulating muscle cell membrane electrical stability. Recognizing the symptoms of Myotonia Congenita and undergoing genetic testing can be […]
Symptoms and Testing information for MYOT Gene Myotilinopathy Genetic Test
Symptoms of MYOT Gene Myotilinopathy Genetic Test Understanding the symptoms and early detection of MYOT gene myotilinopathy is crucial for managing the condition effectively. MYOT gene myotilinopathy is a rare genetic disorder that affects muscle function and can lead to significant physical disability. It is caused by mutations in the MYOT gene, which plays a […]
Symptoms and Testing information for MYH7 Gene Myosin Storage Myopathy Genetic Test
At DNA Labs UAE, we are committed to providing comprehensive genetic testing services to help individuals understand their genetic health. One of the specialized tests we offer is the MYH7 Gene Myosin Storage Myopathy Genetic Test. This test is critical for diagnosing Myosin Storage Myopathy (MSM), a rare genetic disorder that affects muscle function. The […]
Symptoms and Testing information for COL6A2 Gene Myosclerosis Autosomal Recessive Genetic Test
Understanding COL6A2 Gene Myosclerosis Autosomal Recessive Genetic Test Myosclerosis, a rare form of muscular dystrophy, is often linked to mutations in the COL6A2 gene. This condition is characterized by a range of symptoms, from muscle weakness to more severe physical disabilities. The COL6A2 gene plays a crucial role in the production of collagen, which is […]
Symptoms and Testing information for STIM1 Gene Myopathy Tubular Aggregate Type 1 Genetic Test
At DNA Labs UAE, we are committed to providing comprehensive genetic testing services that cater to a wide array of genetic conditions, including STIM1 Gene Myopathy Tubular Aggregate Type 1. This particular genetic disorder is characterized by a range of symptoms that can significantly impact an individual’s quality of life. Understanding these symptoms is crucial […]
Symptoms and Testing information for ACTA1 Gene Myopathy Scapulohumeroperoneal Genetic Test
Understanding the symptoms of ACTA1 gene myopathy scapulohumeroperoneal condition is crucial for early diagnosis and management. This genetic disorder, caused by mutations in the ACTA1 gene, affects skeletal muscles, leading to muscle weakness and other characteristic symptoms. Recognizing these symptoms can prompt individuals to seek genetic testing, such as the ACTA1 Gene Myopathy Scapulohumeroperoneal Genetic […]
Symptoms and Testing information for LDB3 Gene Myopathy Myofibrillar ZASP Related Genetic Test
Myofibrillar myopathies (MFMs) are a group of genetic muscle diseases characterized by progressive muscle weakness and wasting. Among the genes associated with MFMs, the LDB3 gene, also known as ZASP, plays a significant role. Mutations in the LDB3 gene can lead to a specific form of myopathy known as LDB3 gene myopathy myofibrillar ZASP related. […]