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Symptoms and Testing information for ADAM22 Gene Neurodevelopmental Disorder ADAM22 Related Genetic Test

Symptoms and Testing information for ADAM22 Gene Neurodevelopmental Disorder ADAM22 Related Genetic Test

The ADAM22 gene plays a critical role in the development and function of the nervous system. Mutations or alterations in this gene can lead to a range of neurodevelopmental disorders, which may affect an individual’s cognitive, social, and motor skills. Recognizing the symptoms associated with ADAM22 gene neurodevelopmental disorder is crucial for early diagnosis and […]

Symptoms and Testing information for BRAT1 Gene Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures Genetic Test

Symptoms and Testing information for BRAT1 Gene Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures Genetic Test

Understanding BRAT1 Gene Neurodevelopmental Disorder The BRAT1 gene neurodevelopmental disorder, also known as rigidity and multifocal seizure syndrome, neonatal onset, or early infantile epileptic encephalopathy 61, is a rare but severe condition that significantly impacts the central nervous system. This disorder is characterized by a range of symptoms, including cerebellar atrophy, which can lead to […]

Symptoms and Testing information for GTPBP2 Gene Neurodegeneration with Brain Iron Accumulation GTPBP2 Related Genetic Test

Symptoms and Testing information for GTPBP2 Gene Neurodegeneration with Brain Iron Accumulation GTPBP2 Related Genetic Test

Understanding the symptoms of GTPBP2 gene neurodegeneration with brain iron accumulation and the significance of GTPBP2 related genetic testing is crucial for early diagnosis and management of this condition. DNA Labs UAE offers a comprehensive genetic test for this purpose, priced at 4400 AED. This article delves into the symptoms associated with the disorder, the […]

Symptoms and Testing information for COASY Gene Neurodegeneration with Brain Iron Accumulation Type 6 Genetic Test

Symptoms and Testing information for COASY Gene Neurodegeneration with Brain Iron Accumulation Type 6 Genetic Test

Neurodegeneration with brain iron accumulation (NBIA) represents a group of rare, genetic neurological disorders characterized by abnormal accumulation of iron in the basal ganglia, a part of the brain that controls movement, resulting in progressive dystonia, spasticity, parkinsonism, neuropsychiatric abnormalities, and optic atrophy. One specific form of this disorder, known as COASY Protein-Associated Neurodegeneration (CoPAN), […]

Symptoms and Testing information for C19orf12 Gene Neurodegeneration with Brain Iron Accumulation Type 4 Genetic Test

Symptoms and Testing information for C19orf12 Gene Neurodegeneration with Brain Iron Accumulation Type 4 Genetic Test

Symptoms of C19orf12 Gene Neurodegeneration with Brain Iron Accumulation Type 4 Genetic Test Neurodegeneration with brain iron accumulation (NBIA) represents a group of rare, genetic neurological disorders characterized by abnormal accumulation of iron in the basal ganglia, a part of the brain that controls movement, leading to progressive dystonia, spasticity, and parkinsonism. Among the different […]

Symptoms and Testing information for WDR45 Gene Neurodegeneration with Brain Iron Accumulation Type 5 Genetic Test

Symptoms and Testing information for WDR45 Gene Neurodegeneration with Brain Iron Accumulation Type 5 Genetic Test

Neurodegeneration with Brain Iron Accumulation (NBIA) represents a group of rare, genetic neurological disorders characterized by abnormal accumulation of iron in the basal ganglia, a part of the brain that controls movement, leading to progressive dystonia, spasticity, parkinsonism, neuropsychiatric abnormalities, and optic atrophy. Type 5 NBIA, caused by mutations in the WDR45 gene, is particularly […]

Symptoms and Testing information for FOLR1 Gene Neurodegeneration Due to Cerebral Folate Transport Deficiency Genetic Test

Symptoms and Testing information for FOLR1 Gene Neurodegeneration Due to Cerebral Folate Transport Deficiency Genetic Test

Understanding the symptoms of FOLR1 gene neurodegeneration due to cerebral folate transport deficiency is crucial for early diagnosis and intervention. This genetic condition, although rare, can have significant impacts on an individual’s neurological functions due to the impaired transport of folate across the blood-brain barrier. At DNA Labs UAE, we offer a comprehensive genetic test […]

Symptoms and Testing information for CFL2 Gene Nemaline Myopathy Type 7 Genetic Test

Symptoms and Testing information for CFL2 Gene Nemaline Myopathy Type 7 Genetic Test

Nemaline myopathy is a rare genetic disorder that affects muscle tone and strength. It is characterized by muscle weakness, hypotonia, and often, respiratory problems. Among the various types of nemaline myopathy, Type 7, caused by mutations in the CFL2 gene, is particularly noteworthy. Understanding the symptoms of CFL2 gene nemaline myopathy type 7 is crucial […]

Symptoms and Testing information for KBTBD13 Gene Nemaline Myopathy Type 6 Genetic Test

Symptoms and Testing information for KBTBD13 Gene Nemaline Myopathy Type 6 Genetic Test

Nemaline myopathy is a rare genetic disorder that affects muscle tone and strength, leading to a range of physical difficulties. One specific form of this condition, known as Nemaline Myopathy Type 6, is linked to mutations in the KBTBD13 gene. Recognizing the symptoms of this condition early on can be crucial for managing its progression […]

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