Spinocerebellar Ataxia with Axonal Neuropathy (SCAN1) is a rare genetic disorder that affects the nervous system, leading to a range of neurological symptoms. This condition is caused by mutations in the TDP1 gene and is inherited in an autosomal recessive manner. Understanding the symptoms of this condition is crucial for early diagnosis and management. DNA […]
Neurology Diseases
Symptoms and Testing information for TWNK Gene Spinocerebellar Ataxia Infantile-Onset Genetic Test
Spinocerebellar ataxia is a term used to describe a group of hereditary ataxias that are characterized by degenerative changes in the part of the brain related to the control of movement, and sometimes in the spinal cord. Among these, a specific type known as infantile-onset spinocerebellar ataxia is particularly noteworthy due to its early onset […]
Symptoms and Testing information for SHROOM4 Gene Stocco dos Santos X-Linked Mental Retardation Syndrome Genetic Test
Understanding the genetic underpinnings of various conditions is crucial for accurate diagnosis and effective treatment. Among these conditions is the SHROOM4 gene Stocco dos Santos X-linked mental retardation syndrome. This rare genetic disorder has been the focus of extensive research, leading to the development of specialized genetic tests designed to diagnose this condition accurately. At […]
Symptoms and Testing information for ITPR1 Gene Spinocerebellar Ataxia Type 29 Congenital Nonprogressive Genetic Test
Spinocerebellar ataxia type 29 (SCA29) is a rare genetic disorder that is congenital and nonprogressive. It is characterized by early-onset cerebellar ataxia, which affects coordination and balance. This condition is caused by mutations in the ITPR1 gene, which plays a crucial role in the signaling pathways within cells, particularly in the cerebellum, which is the […]
Symptoms and Testing information for PDE8B Gene Striatal Degeneration Genetic Test
In the realm of genetic testing, advancements are continuously being made to help identify and manage various genetic disorders. Among these, the PDE8B gene striatal degeneration genetic test stands out as a critical tool for diagnosing a rare but impactful condition. DNA Labs UAE is at the forefront of providing this essential service, offering a […]
Symptoms and Testing information for ATXN3 Gene Spinocerebellar Ataxia Type 3 Autosomal Dominant Genetic Test
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 […]
Symptoms and Testing information for SLC25A19 Gene Thiamine Metabolism Dysfunction Syndrome 4 Progressive Polyneuropathy Type Genetic Test
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 […]
Symptoms and Testing information for BEAN1 Gene Spinocerebellar Ataxia Type 31 Autosomal Dominant Genetic Test
Spinocerebellar ataxia type 31 (SCA31) is a neurodegenerative disorder characterized by progressive ataxia, which affects coordination and balance. This condition is part of a group of genetic disorders known as autosomal dominant cerebellar ataxias, which are caused by degeneration of the cerebellum and its associated pathways. Among the genes associated with this condition, the BEAN1 […]
Symptoms and Testing information for CACNA1S Gene Thyrotoxic Periodic Paralysis Type 1 Genetic Test
Understanding the symptoms of Thyrotoxic Periodic Paralysis Type 1 is crucial for individuals who are at risk of this condition. This genetic disorder is associated with mutations in the CACNA1S gene, which plays a significant role in muscle contraction and relaxation. DNA Labs UAE offers a comprehensive genetic test for this condition, aimed at providing […]
Symptoms and Testing information for TGM6 Gene Spinocerebellar Ataxia Type 35 Autosomal Dominant Genetic Test
Spinocerebellar ataxia type 35 (SCA35), caused by mutations in the TGM6 gene, is a rare genetic disorder that affects the nervous system. It is characterized by a progressive loss of coordination and balance, which are hallmark symptoms of conditions affecting the cerebellum – the part of the brain that controls movement coordination. Understanding the symptoms […]