Spinal Muscular Atrophy Lower Extremity Autosomal Dominant Type 2 (SMA-LED2) is a rare genetic disorder characterized by muscle weakness and atrophy, predominantly affecting the lower limbs. It is caused by mutations in the BICD2 gene. Understanding the symptoms of this condition is crucial for early diagnosis and management. DNA Labs UAE offers a comprehensive genetic […]
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Symptoms and Testing information for ATP7A Gene Spinal Muscular Atrophy Distal X-Linked Genetic Test
— Spinal Muscular Atrophy Distal X-Linked, associated with mutations in the ATP7A gene, is a rare genetic disorder that can have profound implications on the health and development of affected individuals. DNA Labs UAE offers a comprehensive genetic test for this condition, helping families and individuals gain crucial insights into their genetic health. Understanding the […]
Symptoms and Testing information for ASAH1 Gene Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy Genetic Test
Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME) is a rare, genetic disorder characterized by progressive muscle weakness and wasting (atrophy), along with an uncontrolled jerking movement known as myoclonic epilepsy. This condition is caused by mutations in the ASAH1 gene, which plays a crucial role in the metabolism of certain fats in the body. […]
Symptoms and Testing information for DNAJB2 Gene Spinal Muscular Atrophy Type 5 Genetic Test
Symptoms of DNAJB2 Gene Spinal Muscular Atrophy Type 5 Spinal Muscular Atrophy Type 5, caused by mutations in the DNAJB2 gene, is a rare genetic disorder that affects the motor neurons, leading to muscle weakness and atrophy. This condition is part of a group of hereditary diseases that impair the control of muscle movement. Understanding […]
Symptoms and Testing information for SMN1 Gene Spinal Muscular Atrophy Type 4 Genetic Test
Spinal Muscular Atrophy (SMA) is a genetic disorder characterized by the loss of motor neurons in the spinal cord, leading to muscle wasting and weakness. Among its types, Type 4 SMA, also known as adult-onset SMA, is less common and presents milder symptoms that typically emerge after the age of 30. Understanding the genetic basis […]
Symptoms and Testing information for SMN1 Gene Spinal Muscular Atrophy Type 3 Genetic Test
Spinal Muscular Atrophy (SMA) is a genetic disorder that affects the control of muscle movement. It is caused by a loss of specialized nerve cells, known as motor neurons, in the spinal cord and the part of the brain that is connected to the spinal cord. SMA leads to the weakening and wasting of muscles […]
Symptoms and Testing information for SMN1 Gene Spinal Muscular Atrophy Type 2 Genetic Test
Spinal Muscular Atrophy (SMA) is a genetic disorder that affects the control of muscle movement. It is caused by a loss of specialized nerve cells, called motor neurons, in the spinal cord and the part of the brain that is connected to the spinal cord. The SMN1 gene plays a crucial role in the production […]
Symptoms and Testing information for SMN1 Gene Spinal Muscular Atrophy Type 1 Genetic Test
Spinal Muscular Atrophy (SMA) is a severe genetic disorder that affects the motor neurons in the spinal cord, leading to progressive muscle wasting and weakness. Among its types, SMA Type 1, also known as Werdnig-Hoffmann disease, is the most severe and early-onset form, typically manifesting within the first six months of a child’s life. The […]
Symptoms and Testing information for PLEKHG5 Gene Spinal Muscular Atrophy Distal Autosomal Recessive Type 4 Genetic Test
Spinal Muscular Atrophy Distal Autosomal Recessive Type 4 (SMA-DAR4), also known as Spinal Muscular Atrophy with Lower Extremity Predominance 2 (SMA-LED2), is a rare genetic disorder caused by mutations in the PLEKHG5 gene. This condition is characterized by progressive muscle weakness and atrophy, predominantly affecting the lower limbs. The disease’s onset can vary from early […]
Symptoms and Testing information for AR Gene Spinal and Bulbar Muscular Atrophy X-Linked Genetic Test
Symptoms of AR Gene Spinal and Bulbar Muscular Atrophy X-Linked Genetic Test Spinal and Bulbar Muscular Atrophy (SBMA), also known as Kennedy’s Disease, is a rare, X-linked recessive genetic disorder that primarily affects males. It is caused by mutations in the androgen receptor (AR) gene, leading to the degeneration of motor neurons in the spinal […]