Unverricht-Lundborg disease, also known as Baltic myoclonus or progressive myoclonic epilepsy, is a rare inherited disorder that affects the nervous system. It typically begins in childhood or adolescence and is characterized by episodes of involuntary muscle jerking or twitching (myoclonus), seizures, and, in some cases, a decline in cognitive abilities. The disease is caused by […]
Neurology Diseases
Symptoms and Testing information for UROC1 Gene Urocanase Deficiency Genetic Test
Symptoms of UROC1 Gene Urocanase Deficiency Genetic Test The UROC1 gene plays a critical role in the breakdown process of histidine, an essential amino acid necessary for growth and tissue repair. A deficiency in the UROC1 gene, known as Urocanase Deficiency, can lead to a range of health issues due to the accumulation of urocanic […]
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 […]
Symptoms and Testing information for KCNJ18 Gene Thyrotoxic Periodic Paralysis Type 2 Genetic Test
— Thyrotoxic Periodic Paralysis (TPP) is a rare condition that can cause sudden episodes of muscle weakness in individuals. The KCNJ18 gene plays a critical role in this condition, particularly in TPP type 2. Understanding the symptoms and genetic underpinnings of this condition is crucial for effective management and treatment. DNA Labs UAE offers a […]