Nemaline Myopathy Type 1, caused by mutations in the TPM3 gene, is a rare genetic disorder that affects muscle function. This condition is characterized by muscle weakness that typically presents from birth or early infancy. The TPM3 gene plays a crucial role in the development and function of skeletal muscles, and mutations in this gene […]
Neurology Diseases
Symptoms and Testing information for NEB Gene Nemaline Myopathy Type 2 Autosomal Recessive Genetic Test
Nemaline Myopathy Type 2, also known as NM type 2, is a rare genetic disorder caused by mutations in the NEB gene. This condition falls under the broader category of neuromuscular disorders, which affect the muscles and the nerves that control them. NM type 2 is inherited in an autosomal recessive pattern, meaning that an […]
Symptoms and Testing information for ACTA1 Gene Nemaline Myopathy Type 3 Genetic Test
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 […]
Symptoms and Testing information for TPM2 Gene Nemaline Myopathy Type 4 Genetic Test
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 and Testing information for TNNT1 Gene Nemaline Myopathy Type 5 Genetic Test
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 […]
Symptoms and Testing information for KBTBD13 Gene Nemaline Myopathy Type 6 Genetic Test
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 […]
Symptoms and Testing information for CFL2 Gene Nemaline Myopathy Type 7 Genetic Test
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 […]
Symptoms and Testing information for MT-TV Gene Neonatal Death Due Leigh Syndrome MT-TV Related 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 […]
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 FOLR1 Gene Neurodegeneration Due to Cerebral Folate Transport Deficiency Genetic Test
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 […]