Neurology Diseases

Progressive External Ophthalmoplegia (PEO) is a condition that affects the muscles controlling eye and eyelid movement, leading to weakness and paralysis. When associated with mitochondrial deletions, and specifically linked to the SLC25A4 gene, it is known as Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 2, an autosomal dominant genetic disorder. Understanding the symptoms and genetic […]

Understanding Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 2 Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 2 (PEO-MD2) is a rare genetic condition primarily characterized by weakness of the external eye muscles and other systemic manifestations. This condition is attributed to mutations in the RNASEH1 gene and is inherited in an autosomal recessive manner. Recognizing […]

Progressive External Ophthalmoplegia (PEO) with mitochondrial deletions is a rare genetic disorder that affects the muscles controlling eye and eyelid movement, leading to weakness and paralysis of these muscles. One specific type of this condition, known as Type 3 Autosomal Dominant Progressive External Ophthalmoplegia, is associated with mutations in the TWNK gene. Understanding the symptoms […]

Understanding POLG2 Gene Mutation and Its Implications Progressive External Ophthalmoplegia (PEO) is a disorder characterized by the gradual weakening of the muscles around the eyes, leading to difficulties in eye movement and, in some cases, affecting the muscles that control swallowing. One of the genetic causes behind this condition is a mutation in the POLG2 […]

Progressive External Ophthalmoplegia (PEO) with Mitochondrial Deletions Type 5, associated with the RRM2B gene, is a rare autosomal dominant disorder that affects mitochondrial function, leading to a range of clinical manifestations primarily involving the eyes and skeletal muscles. Understanding the symptoms and the availability of genetic testing can provide crucial insights for affected individuals and […]

Understanding the symptoms of PRICKLE1 Gene Progressive Myoclonus Epilepsy Type 1A is crucial for early diagnosis and management of the condition. This genetic disorder, while rare, has significant impacts on the lives of those affected and their families. DNA Labs UAE offers a comprehensive genetic test for this condition, providing a crucial tool in the […]

Pontocerebellar hypoplasia type 8 (PCH8) is a severe neurological disorder that impacts the development and function of the brain, particularly the cerebellum and brainstem, which are vital for controlling movement, balance, and coordination. This condition is caused by mutations in the CHMP1A gene, which plays a crucial role in cellular processes. Understanding the symptoms of […]

Progressive Myoclonus Epilepsy (PME) is a group of rare genetic disorders characterized by uncontrolled myoclonic jerks, seizures, and, in many cases, a progressive loss of neurological function. Among the various types of PME, Type 3, associated with mutations in the KCTD7 gene, is a particularly severe form that often begins in early childhood. Understanding the […]

Pontocerebellar hypoplasia type 10 (PCH10) is a severe neurological disorder that affects the development of the brain, particularly the cerebellum and pons. These regions are crucial for controlling voluntary movements, balance, and coordination. PCH10 is caused by mutations in the CLP1 gene, which plays a significant role in brain development and function. Recognizing the symptoms […]

Progressive Myoclonus Epilepsy (PME) Type 6, caused by mutations in the GOSR2 gene, is a rare and severe neurological disorder. This condition is characterized by a combination of myoclonic seizures and progressive neurological decline. Recognizing the symptoms early can lead to timely genetic testing and management of the condition. At DNA Labs UAE, we offer […]