Cervical dystonia, also known as spasmodic torticollis, is a painful condition in which neck muscles contract involuntarily, causing the head to twist or turn to one side. Cervical dystonia can also cause the head to uncontrollably tilt forward or backward. A variant of dystonia, this condition can lead to substantial discomfort and pain, as well […]
Charcot-Marie-Tooth disease (CMT) represents a group of inherited disorders that affect the peripheral nerves, which are located outside the brain and spinal cord. Among its various types, the DYNC1H1 gene mutation leads to a specific form known as Axonal Type 20. This condition primarily affects the motor and sensory nerves, leading to muscle weakness and […]
Genetic testing has become an invaluable tool in the diagnosis and management of various inherited conditions. Among these, disorders affecting the CA8 gene, which can lead to cerebellar ataxia and mental retardation with or without quadrupedal locomotion type 3, stand out due to their unique clinical presentations and inheritance patterns. DNA Labs UAE is at […]
At DNA Labs UAE, we are committed to providing comprehensive genetic testing services to help individuals and families understand their genetic health. One of the specialized tests we offer is for the DNMT1 gene, which is associated with cerebellar ataxia with deafness and narcolepsy, an autosomal recessive genetic condition. This article aims to shed light […]
At DNA Labs UAE, we are committed to providing comprehensive genetic testing services to help diagnose a variety of genetic conditions, including the rare WDR81 gene cerebellar ataxia with mental retardation and dysequilibrium syndrome type 2. This condition, although rare, has significant implications for affected individuals and their families, making early and accurate diagnosis crucial […]
Symptoms of ATP1A3 Gene CAPOS Syndrome Genetic Test CAPOS syndrome is a rare genetic disorder that affects various systems within the body, leading to a range of symptoms that can impact an individual’s quality of life. This disorder is caused by mutations in the ATP1A3 gene, which plays a critical role in the function of […]
Cerebellar ataxia with spasticity is a rare, inherited neurological disorder characterized by a combination of cerebellar ataxia, which affects coordination and balance, and spasticity, which refers to stiffness or tightness of the muscles. The condition is linked to mutations in the GBA2 gene. Understanding the symptoms of this disorder is crucial for early diagnosis and […]
— Cardiomyopathy is a disease of the heart muscle that makes it harder for the heart to pump blood to the rest of the body. Hypertrophic cardiomyopathy (HCM) is one type of cardiomyopathy that involves the thickening of the heart muscle, potentially leading to heart failure and other complications. Genetic testing has become an invaluable […]
Understanding the complexities of genetic conditions is crucial for early diagnosis and management. Among these, the ATP8A2 gene-related disorders represent a significant concern due to their profound impact on individuals’ lives. Specifically, the condition known as Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome Type 4 (CAMRQ4) has garnered attention within the medical community for its […]
The CTDP1 gene plays a critical role in the proper development and function of various systems within the human body. Mutations in this gene can lead to a rare but complex condition that manifests through a constellation of symptoms, including cataracts, facial dysmorphism, and neuropathy. Recognizing the symptoms early on can be crucial for managing […]
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.
