Neurology Diseases

Understanding the complexities of genetic disorders is crucial in providing accurate diagnoses and appropriate interventions. Among these disorders, the mutation of the PCDH19 gene, leading to Early Infantile Epileptic Encephalopathy Type 9 (EIEE9), is particularly challenging due to its early onset and severe impact on affected individuals. DNA Labs UAE is at the forefront of […]

In the realm of genetic diagnostics, the identification of specific genes responsible for rare neurological disorders has marked a significant milestone. Among these, the SERPINI1 gene plays a pivotal role in a condition known as familial encephalopathy with neuroserpin inclusion bodies (FENIB). DNA Labs UAE stands at the forefront of this diagnostic frontier, offering comprehensive […]

Emery-Dreifuss muscular dystrophy (EDMD) is a rare genetic condition that primarily affects the skeletal muscles and the heart. Among its several types, EDMD type 1 is specifically linked to mutations in the EMD gene. This condition often leads to muscle weakness and wasting, joint contractures, and heart-related issues. Recognizing the symptoms early can be crucial […]

Understanding the intricacies of genetic disorders is crucial for early diagnosis and management. Among the various conditions that have come under the spotlight for their complex manifestations and genetic underpinnings, BSCL2 Gene Encephalopathy, whether associated with lipodystrophy or not, stands out. This condition, rooted in genetic anomalies, presents a spectrum of symptoms that can significantly […]

Emery-Dreifuss muscular dystrophy (EDMD) is a rare genetic condition that affects the muscles and heart. It is characterized by muscle weakness and wasting, joint contractures, and heart problems. The condition can be caused by mutations in several genes, including the LMNA gene, which leads to a specific form of the disease known as LMNA-related Emery-Dreifuss […]

Understanding COLQ Gene Endplate Acetylcholinesterase Deficiency The COLQ gene is crucial for the proper functioning of acetylcholinesterase (AChE) at the neuromuscular junction. AChE is an enzyme responsible for breaking down acetylcholine, a neurotransmitter that transmits signals between nerve cells and muscles. Deficiencies in this enzyme due to mutations in the COLQ gene can lead to […]

Emery-Dreifuss muscular dystrophy (EDMD) is a rare genetic condition that affects the muscles and the heart. Type 4 of this condition, specifically linked to mutations in the SYNE1 gene, presents unique challenges and symptoms for those affected. Understanding these symptoms is crucial for early diagnosis and management of the condition. DNA Labs UAE offers a […]

Epidermolysis Bullosa Simplex with Muscular Dystrophy (EBS-MD) is a rare genetic disorder that affects the skin and muscles. It is caused by mutations in the PLEC gene, which plays a critical role in the integrity of skin cells and muscle tissue. Individuals with this condition often experience a wide range of symptoms, which can vary […]

Emery-Dreifuss muscular dystrophy (EDMD) is a rare genetic condition that affects the skeletal muscles and the heart. One variant of this condition, known as EDMD type 5, is linked to mutations in the SYNE2 gene. Understanding the symptoms associated with this condition is crucial for early diagnosis and management. DNA Labs UAE offers a comprehensive […]

Emery-Dreifuss muscular dystrophy type 6, caused by mutations in the FHL1 gene, is a rare genetic disorder that affects muscle function and heart health. DNA Labs UAE offers a comprehensive genetic test for this condition, providing essential information for individuals and families concerned about this disease. This article explores the symptoms associated with FHL1 gene […]