Neurology Diseases

MELAS syndrome, an acronym for Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes, is a rare genetic disorder that affects the body’s ability to generate energy. This condition is primarily caused by mutations in the mitochondrial DNA, particularly in the MT-TL1 gene. Understanding the symptoms of MELAS syndrome and the importance of genetic testing, specifically the […]

DNA Labs UAE is at the forefront of genetic testing and diagnostics, offering a wide range of services to cater to various genetic conditions. Among these, the FLNA Gene Melnick-Needles Syndrome Genetic Test is a significant offering, designed to help diagnose this rare genetic disorder. Melnick-Needles Syndrome (MNS) is a condition that affects the skeletal […]

DNA Labs UAE is at the forefront of genetic testing and analysis, providing comprehensive services to diagnose and understand various genetic disorders. Among the numerous tests offered, one significant test focuses on the FKTN gene, which is associated with Limb-girdle muscular dystrophy autosomal recessive type 2M (LGMDR2, formerly LGMD2M). This article delves into the symptoms […]

Limb-girdle muscular dystrophy (LGMD) is a genetically and clinically heterogeneous group of rare muscular dystrophies. It is characterized by progressive weakness and wasting of the muscles around the hips and shoulders (the limb-girdle area). Among the various types of LGMD, the autosomal recessive type 2N, caused by mutations in the POMT1 gene, stands out due […]

Limb-girdle muscular dystrophy (LGMD) is a diverse group of genetic disorders characterized by progressive weakness and degeneration of the muscles, primarily affecting the shoulder and pelvic girdles. Among the various types, LGMD type 2S, caused by mutations in the TRAPPC11 gene, represents a rare and autosomal recessive form of this condition. DNA Labs UAE is […]

Lissencephaly, a rare, gene-linked brain formation disorder, presents significant challenges not only to the affected individuals but also to their families and healthcare providers. Among its various types, Lissencephaly type 4 with microcephaly, caused by mutations in the NDE1 gene, is particularly notable. Understanding the symptoms and the availability of genetic testing can be crucial […]

Limb-girdle muscular dystrophy (LGMD) is a term for a group of diseases that cause weakness and wasting of the muscles in the arms and legs. The muscles most affected are those closest to the body (proximal muscles), specifically the muscles of the shoulders, upper arms, pelvic area, and thighs. The severity, age of onset, and […]

Lissencephaly, which literally means “smooth brain,” is a rare, gene-linked brain malformation characterized by the absence of normal convolutions (folds) in the cerebral cortex and an unusually small head (microcephaly). Among the genetic variations that can lead to lissencephaly, mutations in the DCX (Doublecortin) gene are significant, especially in causing X-linked lissencephaly and subcortical band […]

Limb-girdle muscular dystrophy (LGMD) is a group of genetic disorders characterized by progressive muscle weakness and atrophy, primarily affecting the shoulder and pelvic girdles. Among the various subtypes, LGMD autosomal recessive type 2A, caused by mutations in the CAPN3 gene, is one of the most common. The CAPN3 gene provides instructions for producing a protein […]

Lowe oculocerebrorenal syndrome (OCRL) is a rare genetic condition that primarily affects the eyes, brain, and kidneys. This multisystem disorder, caused by mutations in the OCRL gene, presents a spectrum of symptoms and challenges for those affected. DNA Labs UAE offers a comprehensive genetic test to diagnose this condition, providing essential information for affected families. […]