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Symptoms and Testing information for SLITRK1 Gene Tourette Syndrome Genetic Test

Symptoms of SLITRK1 Gene Tourette Syndrome Genetic Test Tourette Syndrome (TS) is a complex neurological disorder characterized by repetitive, stereotyped, involuntary movements and vocalizations called tics. The condition is named after the French physician Georges Gilles de la Tourette, who first described it in 1885. While the exact cause of Tourette Syndrome is unknown, it

Symptoms and Testing information for MECP2 Gene Rett Syndrome Preserved Speech Variant Genetic Test

Rett Syndrome is a rare, severe neurological disorder that primarily affects females. It is usually caused by mutations in the MECP2 gene. This condition leads to severe impairments, affecting nearly every aspect of the patient’s life: their ability to speak, walk, eat, and even breathe easily. However, there’s a variant known as the Preserved Speech

Symptoms and Testing information for SOX10 Gene Peripheral Demyelinating Neuropathy Waardenburg Syndrome and Hirschsprung Disease Genetic Test

Understanding the complexities of genetic conditions is crucial for early diagnosis and effective treatment. Among these, the SOX10 gene plays a pivotal role in the development of a group of conditions, namely Peripheral Demyelinating Neuropathy, Waardenburg Syndrome, and Hirschsprung Disease. These conditions, while distinct, share a common genetic underpinning that can lead to a wide

Symptoms and Testing information for ATP7A Gene Occipital Horn Syndrome Genetic Test

Symptoms of ATP7A Gene Occipital Horn Syndrome Genetic Test Occipital Horn Syndrome (OHS), also known as X-linked cutis laxa or Ehlers-Danlos syndrome type IX, is a rare connective tissue disorder caused by mutations in the ATP7A gene. This condition is characterized by a variety of symptoms that can affect multiple systems of the body. Recognizing

Symptoms and Testing information for ROGDI Gene Kohlschutter Tonz syndrome Genetic Test

Symptoms of ROGDI Gene Kohlschutter Tonz Syndrome Genetic Test Kohlschutter Tonz Syndrome is a rare genetic disorder that impacts the neurological system and dental health. It is characterized by epilepsy, developmental delay, and amelogenesis imperfecta, a condition affecting dental enamel. This disorder is caused by mutations in the ROGDI gene, and understanding its symptoms is

Symptoms and Testing information for FXN Gene Friedreich Ataxia Genetic Test

Friedreich ataxia (FRDA) is a rare, inherited disease that causes progressive damage to the nervous system. It manifests in symptoms ranging from gait disturbance and speech problems to heart disease. The condition is named after the physician Nicholaus Friedreich, who first described the syndrome in the 1860s. It’s caused by a defect in the FXN