Neurodegeneration with brain iron accumulation (NBIA) represents a group of rare, genetic neurological disorders characterized by abnormal accumulation of iron in the basal ganglia, a part of the brain that controls movement, resulting in progressive dystonia, spasticity, parkinsonism, neuropsychiatric abnormalities, and optic atrophy. One specific form of this disorder, known as COASY Protein-Associated Neurodegeneration (CoPAN), […]
Symptoms of C19orf12 Gene Neurodegeneration with Brain Iron Accumulation Type 4 Genetic Test Neurodegeneration with brain iron accumulation (NBIA) represents a group of rare, genetic neurological disorders characterized by abnormal accumulation of iron in the basal ganglia, a part of the brain that controls movement, leading to progressive dystonia, spasticity, and parkinsonism. Among the different […]
Neurodegeneration with Brain Iron Accumulation (NBIA) represents a group of rare, genetic neurological disorders characterized by abnormal accumulation of iron in the basal ganglia, a part of the brain that controls movement, leading to progressive dystonia, spasticity, parkinsonism, neuropsychiatric abnormalities, and optic atrophy. Type 5 NBIA, caused by mutations in the WDR45 gene, is particularly […]
Understanding the symptoms of FOLR1 gene neurodegeneration due to cerebral folate transport deficiency is crucial for early diagnosis and intervention. This genetic condition, although rare, can have significant impacts on an individual’s neurological functions due to the impaired transport of folate across the blood-brain barrier. At DNA Labs UAE, we offer a comprehensive genetic test […]
Leigh Syndrome is a severe neurological disorder that usually becomes apparent in the first year of life and is characterized by progressive loss of mental and movement abilities, leading to early death. This disorder can be caused by mutations in various genes, including the mitochondrial gene MT-TV. Understanding the symptoms and undergoing genetic testing can […]
Nemaline myopathy is a rare genetic disorder that affects muscle tone and strength. It is characterized by muscle weakness, hypotonia, and often, respiratory problems. Among the various types of nemaline myopathy, Type 7, caused by mutations in the CFL2 gene, is particularly noteworthy. Understanding the symptoms of CFL2 gene nemaline myopathy type 7 is crucial […]
Nemaline myopathy is a rare genetic disorder that affects muscle tone and strength, leading to a range of physical difficulties. One specific form of this condition, known as Nemaline Myopathy Type 6, is linked to mutations in the KBTBD13 gene. Recognizing the symptoms of this condition early on can be crucial for managing its progression […]
Nemaline Myopathy Type 5, caused by mutations in the TNNT1 gene, is a rare genetic disorder that primarily affects muscle tissue, leading to muscle weakness and other significant health issues. Recognizing the symptoms early on can be crucial for managing the condition and improving the quality of life for those affected. DNA Labs UAE offers […]
Nemaline myopathy is a rare genetic disorder that affects muscle tone and strength, leading to muscle weakness that can range from mild to severe. Among the various types of nemaline myopathy, Type 4, caused by mutations in the TPM2 gene, is of significant interest to researchers and clinicians. Understanding the symptoms of TPM2 gene nemaline […]
Symptoms of ACTA1 Gene Nemaline Myopathy Type 3 Genetic Test Nemaline Myopathy Type 3, caused by mutations in the ACTA1 gene, is a rare genetic disorder that primarily affects skeletal muscles, responsible for movement. This condition manifests through various symptoms that can significantly impact the quality of life of those affected. Recognizing these symptoms is […]
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.
