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 […]
Neurology Diseases
Symptoms and Testing information for TTN Gene Limb-girdle muscular dystrophy autosomal recessive type 2J Genetic Test
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 […]
Symptoms and Testing information for GBA Gene Lewy body dementia susceptibility to Genetic Test
Lewy body dementia (LBD) is a complex, progressive brain disorder that affects an individual’s ability to think, reason, and move. It shares symptoms with other more common diseases like Alzheimer’s and Parkinson’s, making it challenging to diagnose accurately. However, advancements in genetics have opened new doors to understanding the susceptibility to LBD, particularly through the […]
Symptoms and Testing information for MYOT Gene Limb-girdle muscular dystrophy autosomal dominant type 1A Genetic Test
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, known as the limb-girdle area. Among the various subtypes of LGMD, autosomal dominant type 1A, linked to mutations in the MYOT gene, stands out for its distinct clinical […]
Symptoms and Testing information for TUBB4A Gene Leukodystrophy hypomyelinating type 6 Genetic Test
Leukodystrophies are a group of rare, genetic disorders that affect the white matter of the brain. Among these, TUBB4A gene leukodystrophy, also known as hypomyelinating leukodystrophy type 6, is a condition that presents with a variety of symptoms and requires specific genetic testing for diagnosis. At DNA Labs UAE, we offer a comprehensive genetic test […]
Symptoms and Testing information for LMNA Gene Limb-girdle muscular dystrophy autosomal dominant type 1B Genetic Test
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 and upper arms and the muscles of the hips and thighs. LGMD […]
Symptoms and Testing information for POLR3A Gene Leukodystrophy hypomyelinating type 7 Genetic Test
Understanding POLR3A Gene Leukodystrophy Hypomyelinating Type 7 Leukodystrophies are a group of rare genetic disorders characterized by the progressive degeneration of the white matter in the brain. Among these, POLR3A gene leukodystrophy hypomyelinating type 7 stands out due to its unique genetic underpinnings and the specific symptoms it presents. Caused by mutations in the POLR3A […]
Symptoms and Testing information for CAV3 Gene Limb-girdle muscular dystrophy autosomal dominant type 1C Genetic Test
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 […]
Symptoms and Testing information for POLR3B Gene Leukodystrophy hypomyelinating type 8 Genetic Test
“` Understanding POLR3B Gene Leukodystrophy Hypomyelinating Type 8 Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord, and often the peripheral nerves. Among these, POLR3B gene leukodystrophy, also known as hypomyelinating leukodystrophy type 8, stands out due to its unique genetic basis and clinical manifestations. This condition is […]
Symptoms and Testing information for DNAJB6 Gene Limb-girdle muscular dystrophy autosomal dominant type 1E Genetic Test
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 […]