Symptoms of ASPM Gene Microcephaly Autosomal Recessive Type 5
Microcephaly is a medical condition characterized by a smaller than normal head size, which is usually a result of abnormal brain development. Autosomal Recessive Primary Microcephaly (MCPH) is a rare genetic disorder, and Type 5, caused by mutations in the ASPM gene, is one of its variants. This condition is significant not only for its impact on the physical attributes of the brain but also for its effects on neurological development. Understanding the symptoms is crucial for early diagnosis and intervention.
The primary symptom of ASPM gene microcephaly autosomal recessive type 5 is a significantly reduced head circumference, noticeable at birth or in the first few months of life. This reduction in head size is often accompanied by a range of neurological and developmental challenges. Individuals with this condition may experience delayed developmental milestones, such as sitting up, crawling, and walking. Cognitive impairment is also common, ranging from mild to severe. In some cases, individuals may encounter difficulties with speech and language development.
Seizures are another symptom that can be associated with this form of microcephaly. These can vary in frequency and severity, and in some cases, may be resistant to medication. Furthermore, motor skills development can be affected, leading to challenges with coordination and fine motor activities. Despite the physical and neurological challenges, some individuals with ASPM gene microcephaly autosomal recessive type 5 have normal intelligence and life expectancy. However, this varies widely among affected individuals.
Genetic Test for ASPM Gene Microcephaly Autosomal Recessive Type 5
Given the complexity and variability of symptoms associated with ASPM gene microcephaly autosomal recessive type 5, genetic testing plays a crucial role in diagnosis. DNA Labs UAE offers a comprehensive genetic test specifically designed to identify mutations in the ASPM gene associated with this condition. This test is an invaluable tool for confirming the diagnosis, which can be particularly helpful for families seeking early intervention and support services.
The cost of the ASPM gene microcephaly autosomal recessive type 5 genetic test at DNA Labs UAE is 4400 AED. This test is performed with a high degree of accuracy and sensitivity, ensuring reliable results for affected families. By identifying the specific genetic mutation, this test can also provide essential information for genetic counseling, helping families understand the risk of recurrence in future pregnancies.
For more information on the ASPM gene microcephaly autosomal recessive type 5 genetic test, including how to arrange for testing, please visit DNA Labs UAE. This resource offers detailed insights into the testing process, as well as additional support and resources for families navigating the challenges of microcephaly.
Conclusion
ASPM gene microcephaly autosomal recessive type 5 is a complex condition with a wide range of symptoms and outcomes. Early diagnosis through genetic testing can provide families with the information they need to seek appropriate care and support. With the test available at DNA Labs UAE, families have access to a critical resource in understanding and managing this condition. The cost of 4400 AED for the test is an investment in gaining crucial insights into an affected individual’s health and future.
Understanding the symptoms and availing of genetic testing services are vital steps in managing the challenges associated with ASPM gene microcephaly autosomal recessive type 5. With ongoing research and support, families can navigate the complexities of this condition and seek the best possible outcomes for their loved ones.
