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Polymicrogyria Perisylvian with Cerebellar Hypoplasia and Arthrogryposis is a complex genetic condition that affects the development of the human brain and musculoskeletal system. This condition, caused by mutations in the PI4KA gene, leads to a range of developmental and neurological challenges. DNA Labs UAE offers a comprehensive genetic test to diagnose this condition, ensuring that affected individuals and their families can access the support and interventions they need. The cost of the test is 4400 AED.
Understanding the symptoms of this condition is crucial for early diagnosis and management. The primary symptom of Polymicrogyria Perisylvian with Cerebellar Hypoplasia and Arthrogryposis is abnormal brain development, specifically in the areas responsible for motor functions and coordination. This can lead to a range of neurological symptoms, including:
- Delayed motor milestones, such as sitting up, crawling, and walking
- Difficulties with speech and language development
- Seizures, which can vary in severity and frequency
- Issues with muscle tone, leading to stiffness or floppiness in different parts of the body
In addition to these neurological symptoms, individuals with this condition may also experience arthrogryposis, a congenital joint contracture in two or more areas of the body. This can significantly impact mobility and require ongoing physical therapy and, in some cases, surgical interventions.
Cerebellar hypoplasia, another hallmark of this condition, refers to the underdevelopment of the cerebellum, a part of the brain that plays a vital role in motor control. This can lead to difficulties with balance, coordination, and fine motor skills.
Given the complexity and variability of symptoms, a genetic test is invaluable for accurate diagnosis. DNA Labs UAE’s genetic test for the PI4KA gene mutation offers a definitive diagnosis, guiding treatment and management strategies. The test, priced at 4400 AED, is a critical step towards understanding the condition and optimizing the quality of life for those affected.
For more information on this genetic test and to schedule a consultation, please visit DNA Labs UAE.
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Polymicrogyria Perisylvian with Cerebellar Hypoplasia and Arthrogryposis is a complex genetic condition that affects the development of the human brain and musculoskeletal system. This condition, caused by mutations in the PI4KA gene, leads to a range of developmental and neurological challenges. DNA Labs UAE offers a comprehensive genetic test to diagnose this condition, ensuring that affected individuals and their families can access the support and interventions they need. The cost of the test is 4400 AED.
Understanding the symptoms of this condition is crucial for early diagnosis and management. The primary symptom of Polymicrogyria Perisylvian with Cerebellar Hypoplasia and Arthrogryposis is abnormal brain development, specifically in the areas responsible for motor functions and coordination. This can lead to a range of neurological symptoms, including:
- Delayed motor milestones, such as sitting up, crawling, and walking
- Difficulties with speech and language development
- Seizures, which can vary in severity and frequency
- Issues with muscle tone, leading to stiffness or floppiness in different parts of the body
In addition to these neurological symptoms, individuals with this condition may also experience arthrogryposis, a congenital joint contracture in two or more areas of the body. This can significantly impact mobility and require ongoing physical therapy and, in some cases, surgical interventions.
Cerebellar hypoplasia, another hallmark of this condition, refers to the underdevelopment of the cerebellum, a part of the brain that plays a vital role in motor control. This can lead to difficulties with balance, coordination, and fine motor skills.
Given the complexity and variability of symptoms, a genetic test is invaluable for accurate diagnosis. DNA Labs UAE’s genetic test for the PI4KA gene mutation offers a definitive diagnosis, guiding treatment and management strategies. The test, priced at 4400 AED, is a critical step towards understanding the condition and optimizing the quality of life for those affected.
For more information on this genetic test and to schedule a consultation, please visit DNA Labs UAE.
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