Mandibulofacial dysostosis with microcephaly (MFDM) is a rare genetic disorder that presents a spectrum of physical anomalies and developmental delays. This condition is primarily associated with mutations in the EFTUD2 gene. Understanding the symptoms and seeking early genetic testing can significantly impact the management and prognosis of the disorder. DNA Labs UAE offers a comprehensive […]
Symptoms of SMARCA1 Gene Mental Retardation X-linked SMARCA1 Related Genetic Test Mental retardation, now more commonly referred to as intellectual disability, is a condition characterized by significant limitations in both intellectual functioning and in adaptive behavior, which covers a range of everyday social and practical skills. This condition manifests before the age of 18. Genetic […]
In the realm of genetic diagnostics, the advancement in identifying and understanding rare genetic disorders has significantly improved the quality of life for many affected individuals and their families. One such condition, Limb-girdle muscular dystrophy autosomal recessive type 2E (LGMDR2, formerly known as LGMD2E), caused by mutations in the SGCB gene, exemplifies the critical role […]
Symptoms of TCAP Gene Limb-Girdle Muscular Dystrophy Autosomal Recessive Type 2G Limb-Girdle Muscular Dystrophy (LGMD) represents a diverse group of genetic disorders characterized by progressive weakness and degeneration of the limb-girdle muscles, which include those of the hips and shoulders. Among the various types, LGMD type 2G, caused by mutations in the TCAP gene, is […]
Limb-girdle muscular dystrophy (LGMD) is a genetically and clinically heterogeneous group of rare muscular dystrophies. It is characterized by progressive muscle weakness and wasting, primarily affecting the shoulder and pelvic girdle muscles. Among the various subtypes of LGMD, the autosomal recessive type 2H, caused by mutations in the TRIM32 gene, stands out due to its […]
Limb-girdle muscular dystrophy (LGMD) represents a diverse group of genetic disorders characterized by progressive weakness and wasting of the muscles, primarily affecting the shoulder and pelvic girdles. Among the various subtypes of LGMD, autosomal recessive type 2I, caused by mutations in the FKRP (fukutin-related protein) gene, stands out due to its unique genetic basis and […]
Limb-girdle muscular dystrophy (LGMD) is a term used 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 progression and symptoms of […]
Limb-girdle muscular dystrophy (LGMD) represents a diverse group of genetic disorders characterized by progressive weakness and wasting of the muscles, particularly those around the hips and shoulders (the limb-girdles). Among the various types, LGMD type 2K, caused by mutations in the POMT1 gene, stands out due to its autosomal recessive inheritance pattern. This means that […]
Limb-girdle muscular dystrophy (LGMD) is a term used to describe 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 […]
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 […]
DNA Labs UAE is a leading provider of genomics services in the United Arab Emirates. Our comprehensive range of services includes DNA sequencing, gene expression analysis, and SNP genotyping. With state-of-the-art equipment and a dedicated team of scientists and technicians, we ensure high-quality, accurate, and reliable data.
