Joubert Syndrome is a rare genetic disorder that affects the development of the cerebellum, a part of the brain that controls balance and coordination. Joubert Syndrome Type 6 is specifically linked to mutations in the TMEM67 gene. This condition is characterized by a distinctive malformation of the brain’s structure, often referred to as the “molar tooth sign” due to its appearance on MRI scans. Individuals with Joubert Syndrome Type 6 may experience a wide range of symptoms, and understanding these can be crucial for early diagnosis and management. DNA Labs UAE offers a genetic test specifically designed to identify mutations in the TMEM67 gene, providing essential information for families and healthcare providers.
Symptoms of TMEM67 Gene Joubert Syndrome Type 6
Joubert Syndrome Type 6 presents a variety of symptoms that can affect individuals differently. These symptoms often become apparent in early childhood and can include:
- Hypotonia: Low muscle tone, leading to difficulties in sitting, standing, or walking.
- Ataxia: Lack of muscle control or coordination of voluntary movements, such as walking or picking up objects.
- Cognitive Impairment: Developmental delays, learning disabilities, and sometimes intellectual disability.
- Breathing Irregularities: Episodes of rapid breathing (tachypnea) or abnormally slow breathing (apnea), especially in newborns.
- Retinal Dystrophy: Progressive vision loss due to degeneration of the retina.
- Cystic Kidney Disease: Development of cysts in the kidneys that can lead to impaired kidney function over time.
- Liver Fibrosis: Development of scar tissue in the liver, which can impair its function.
- Molar Tooth Sign: A characteristic appearance on MRI that shows abnormal brainstem and cerebellar development, resembling the shape of a molar tooth.
It is important to note that not all individuals with TMEM67 gene mutations will experience all these symptoms, and the severity can vary significantly from one person to another.
TMEM67 Gene Joubert Syndrome Type 6 Genetic Test
DNA Labs UAE offers a genetic test for Joubert Syndrome Type 6, focusing on identifying mutations in the TMEM67 gene. This test is crucial for confirming the diagnosis, understanding the risk of passing the condition to future generations, and guiding management and treatment decisions. The test involves collecting a small sample of blood or saliva from the individual. It is then analyzed in the lab using advanced genetic sequencing techniques to identify any mutations in the TMEM67 gene.
The cost of the TMEM67 Gene Joubert Syndrome Type 6 Genetic Test is 4400 AED. While the cost may seem significant, the information provided by this test can be invaluable for affected families. It offers insights into the condition that can help in planning for the individual’s care, understanding the prognosis, and connecting with support resources.
For more information on the TMEM67 Gene Joubert Syndrome Type 6 Genetic Test, or to schedule a test, please visit DNA Labs UAE.
Early diagnosis and intervention can make a significant difference in the management of Joubert Syndrome Type 6. With the support of genetic testing and comprehensive care, individuals with this condition can achieve better health outcomes and quality of life.
