Spinocerebellar Ataxia Type 3 (SCA3), also known as Machado-Joseph Disease, is a progressive neurodegenerative disorder that affects the cerebellum—the part of the brain that controls muscle movement. This condition is caused by a genetic mutation in the ATXN3 gene and is inherited in an autosomal dominant pattern. This means that only one copy of the […]
Understanding the complexities of genetic disorders is crucial for early diagnosis and effective management. Among these, the SLC25A19 Gene Thiamine Metabolism Dysfunction Syndrome 4, also known as Progressive Polyneuropathy Type, is a condition that has garnered significant attention within the medical community. This genetic disorder is marked by a range of symptoms that can severely […]
Understanding Spinocerebellar Ataxia Type 13 (SCA13) Linked to the GRM1 Gene Spinocerebellar ataxia type 13 (SCA13) is a rare, autosomal recessive neurological disorder characterized by a wide range of symptoms, primarily affecting the cerebellum – the part of the brain that controls coordination and balance. This disorder is caused by mutations in the GRM1 gene, […]
Understanding PRKCG Gene Spinocerebellar Ataxia Type 14 Spinocerebellar ataxia type 14 (SCA14) is a progressive neurodegenerative disorder characterized by a wide array of symptoms, primarily affecting motor coordination. This condition is caused by mutations in the PRKCG gene, which plays a crucial role in the functioning of neurons in the cerebellum. The cerebellum is the […]
Spinocerebellar ataxia type 15 (SCA15) is a genetic disorder characterized by progressive ataxia, which is a condition marked by coordination problems and unsteady movements. This condition is caused by mutations in the ITPR1 gene, which plays a critical role in the functioning of nerve cells in the brain. Understanding the symptoms and undergoing genetic testing […]
Spinocerebellar ataxia type 17 (SCA17) is a rare neurodegenerative disorder characterized by a wide array of symptoms, including but not limited to, involuntary movements, lack of coordination, and cognitive decline. This condition is caused by mutations in the TBP gene, which is inherited in an autosomal dominant manner. This means that an individual only needs […]
Spinocerebellar ataxia type 17 (SCA17), a progressive neurodegenerative disorder, is a condition that has garnered significant attention in the field of genetic research due to its profound impact on individuals and families affected by it. This disorder is characterized by a wide range of symptoms, which can significantly impair the quality of life of those […]
Spinocerebellar ataxia type 18 (SCA18) is a rare genetic disorder that affects the nervous system. It is caused by mutations in the IFRD1 gene and is inherited in an autosomal dominant pattern. This means that a mutation in just one of the two copies of the gene a person has is enough to cause the […]
Spinocerebellar ataxia type 18 (SCA18) is a rare, inherited neurological disorder characterized by a variety of symptoms resulting from the degeneration of the cerebellum and its associated pathways in the brain. This condition is caused by mutations in the GRID2 gene and follows an autosomal recessive pattern of inheritance. Understanding the symptoms and the availability […]
In the realm of genetic testing and diagnosis, advancements have significantly improved our understanding of hereditary diseases. One such condition that has gained attention due to its impact on motor control and coordination is Spinocerebellar Ataxia Type 2 (SCA2), a disorder linked to the ATXN2 gene. This condition is autosomal dominant, meaning that only one […]
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