Microcephaly is a rare neurological condition in which an infant’s head is significantly smaller than the heads of other children of the same age and sex. This condition often occurs because the brain has not developed properly during pregnancy or has stopped growing after birth, resulting in a smaller head size. Autosomal recessive primary microcephaly (MCPH) is a genetic form of microcephaly that typically presents at birth and is characterized by a significantly reduced head circumference, with little or no impact on intelligence. Among the various genetic mutations that can lead to MCPH, mutations in the PHC1 gene are responsible for MCPH type 11.
Symptoms of PHC1 Gene Microcephaly Autosomal Recessive Type 11
Individuals with mutations in the PHC1 gene often present with a range of symptoms, most notably a significantly reduced head circumference that is apparent at birth. This reduction in head size is usually more severe than in other types of microcephaly and can be accompanied by delayed growth and development in other parts of the body. While intelligence is often preserved, there can be mild to moderate developmental delays or intellectual disability in some cases. Other potential symptoms include seizures, difficulties with coordination and motor functions, and speech delays. It is important to note that the severity of symptoms can vary widely among affected individuals.
Genetic Testing for PHC1 Gene Microcephaly Autosomal Recessive Type 11
Genetic testing for mutations in the PHC1 gene can confirm a diagnosis of microcephaly autosomal recessive type 11. This testing is crucial for families seeking to understand the genetic basis of the condition, for accurate genetic counseling, and for making informed decisions about future pregnancies. The test involves analyzing the DNA for mutations in the PHC1 gene that are known to cause the condition.
The cost of the PHC1 gene microcephaly autosomal recessive type 11 genetic test is 4400 AED. This test is available through DNA Labs UAE, a leading provider of genetic testing services in the region. For more information about this test and to schedule an appointment, please visit DNA Labs UAE.
Importance of Early Diagnosis and Intervention
Early diagnosis of PHC1 gene microcephaly autosomal recessive type 11 is critical for the management of the condition. While there is no cure, early intervention and supportive care can significantly improve the quality of life for affected individuals. Therapies can include physical therapy, speech therapy, and occupational therapy, which can help maximize an individual’s abilities and independence. Additionally, regular monitoring and management of any associated conditions, such as seizures, are important for optimizing health and development.
Conclusion
Microcephaly autosomal recessive type 11, caused by mutations in the PHC1 gene, is a rare genetic condition that results in a significantly reduced head circumference and can be associated with a range of developmental delays. Genetic testing for mutations in the PHC1 gene, available through DNA Labs UAE for 4400 AED, can confirm a diagnosis and facilitate appropriate genetic counseling and management. Early diagnosis and intervention are crucial for supporting the health and development of affected individuals.
For more detailed information about the PHC1 gene microcephaly autosomal recessive type 11 genetic test and to learn more about the services offered by DNA Labs UAE, please visit their website at https://dnalabsuae.com.
