Symptoms of AKT3 Gene Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome Type 2 Genetic Test
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus (MPPH) Syndrome Type 2 is a rare genetic disorder primarily affecting the development of the brain. This condition is characterized by several key features, including an abnormally large brain (megalencephaly), irregularities in the brain’s surface (polymicrogyria), extra fingers or toes (polydactyly), and an accumulation of cerebrospinal fluid in the brain (hydrocephalus). These symptoms result from mutations in the AKT3 gene, a crucial player in brain development. Understanding the symptoms of this condition is vital for early diagnosis and intervention. DNA Labs UAE offers a comprehensive genetic test for this syndrome, priced at 4400 AED.
Key Symptoms and Features
Individuals with MPPH Syndrome Type 2 may exhibit a wide range of symptoms, with varying degrees of severity. The most common features of this condition include:
- Megalencephaly: This refers to an abnormally large brain size, which can be detected early in life, sometimes even prenatally via ultrasound.
- Polymicrogyria: This involves the development of an excessive number of small and irregular folds on the surface of the brain, leading to developmental delays and neurological issues.
- Polydactyly: The presence of extra fingers or toes is another hallmark of this syndrome, which can be observed at birth.
- Hydrocephalus: An accumulation of cerebrospinal fluid within the brain cavities, leading to increased head size and potentially causing neurological symptoms if not treated.
- Developmental Delay: Children with MPPH Syndrome Type 2 often experience delays in reaching developmental milestones, such as sitting up, walking, and talking.
- Seizures: A significant number of affected individuals may experience seizures, which can vary in frequency and severity.
Other symptoms may include intellectual disability, vision problems, and difficulties with muscle coordination and movement. The severity of these symptoms can vary widely among individuals with MPPH Syndrome Type 2.
Genetic Testing for MPPH Syndrome Type 2
Given the complex nature of MPPH Syndrome Type 2, genetic testing is a critical tool for accurate diagnosis. DNA Labs UAE offers a specialized genetic test for the AKT3 gene mutations associated with this condition. The test is priced at 4400 AED and provides valuable information for families seeking answers about this rare genetic disorder.
Genetic testing can help in several ways:
- Confirming the diagnosis of MPPH Syndrome Type 2 in symptomatic individuals.
- Providing information about the prognosis and potential complications associated with the condition.
- Guiding treatment and management decisions to improve the quality of life for affected individuals.
- Offering insight into the risk of recurrence in future pregnancies for families with an affected child.
For more information about the AKT3 gene megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 2 genetic test, please visit DNA Labs UAE.
Conclusion
MPPH Syndrome Type 2 is a complex genetic condition that requires a comprehensive approach to diagnosis and management. Understanding the symptoms and undergoing genetic testing are crucial steps in the journey toward better health outcomes. DNA Labs UAE is committed to providing accurate and timely genetic testing services to help families navigate the challenges of this rare syndrome. With the right support and interventions, individuals with MPPH Syndrome Type 2 can achieve their full potential and lead fulfilling lives.
