Understanding the Symptoms of PRRT2 Gene DYT10 Genetic Test The PRRT2 gene mutation is associated with a range of neurological conditions, most notably DYT10, also known as paroxysmal kinesigenic dyskinesia (PKD). This condition is characterized by sudden, brief, involuntary movements or spasms that are triggered by sudden motion. Understanding the symptoms associated with this genetic […]
Neurology Diseases
Symptoms and Testing information for SGCE Gene DYT11 Genetic Test
— The SGCE gene, also known as the epsilon-sarcoglycan gene, plays a crucial role in the normal functioning of the brain, particularly in the movement control regions. Mutations in this gene are associated with a condition known as Myoclonus-Dystonia (MD), which is classified under the broader category of dystonia, DYT11. Understanding the symptoms of SGCE […]
Symptoms and Testing information for YARS1 Gene DI-CMTC Genetic Test
Understanding the YARS1 Gene DI-CMTC Genetic Test The YARS1 gene plays a critical role in human biology, and mutations in this gene can lead to a variety of health issues, including the development of DI-CMTC (Dominant Intermediate Charcot-Marie-Tooth disease). Recognizing the symptoms of conditions linked to the YARS1 gene is crucial for timely diagnosis and […]
Symptoms and Testing information for MPZ Gene DI-CMTD Genetic Test
Understanding the symptoms associated with mutations in the MPZ gene, which can lead to a condition known as Dominant Intermediate Charcot-Marie-Tooth Disease (DI-CMTD), is crucial for early diagnosis and management. The MPZ gene plays a significant role in the functioning of peripheral nerves, and its mutations can disrupt nerve transmission, leading to a range of […]
Symptoms and Testing information for PRX Gene Dejerine-Sottas Disease Genetic Test
Dejerine-Sottas Disease, also known as Hereditary Motor and Sensory Neuropathy Type III, is a genetic condition that affects the peripheral nervous system. It is characterized by severe demyelination of peripheral nerves, leading to muscle weakness, sensory loss, and in some cases, deformities of the extremities. The PRX gene plays a significant role in the development […]
Symptoms and Testing information for GABRG2 Gene Dravet Syndrome Genetic Test
Dravet Syndrome, a severe form of epilepsy, manifests in the first year of a child’s life with frequent and prolonged seizures. These seizures are often triggered by high temperatures or fever but can occur without any apparent cause. As the child ages, the condition can lead to developmental delays, behavioral issues, and ongoing challenges with […]
Symptoms and Testing information for ITM2B Gene Dementia Familial British Type Genetic Test
Symptoms of ITM2B Gene Dementia Familial British Type Genetic Test Dementia Familial British Type, also known as Familial British Dementia (FBD), is a rare genetic disorder caused by mutations in the ITM2B gene. This condition is inherited in an autosomal dominant pattern, meaning that only one copy of the altered gene in each cell is […]
Symptoms and Testing information for SCN2A Gene Dravet Syndrome Genetic Test
Understanding the complexities of genetic disorders is crucial for early diagnosis and management. Among these, Dravet Syndrome stands out due to its severe implications on those affected. This condition, primarily caused by mutations in the SCN2A gene, leads to a spectrum of symptoms that can significantly impact the quality of life. At DNA Labs UAE, […]
Symptoms and Testing information for ITM2B Gene Dementia Familial Danish Type Genetic Test
Dementia is a broad category of brain diseases that cause a long-term and often gradual decrease in the ability to think and remember. Familial Danish Dementia (FDD), a very rare form of dementia, is caused by mutations in the ITM2B gene. Recognizing the symptoms of this condition is crucial for early diagnosis and management. At […]
Symptoms and Testing information for SCN9A Gene Dravet Syndrome Modifier of Genetic Test
Dravet Syndrome is a severe form of epilepsy that begins in infancy. It is characterized by frequent, prolonged seizures often triggered by high temperatures or fever. However, the discovery of the role of the SCN9A gene as a modifier in Dravet Syndrome has opened new avenues for understanding and managing this condition. At DNA Labs […]