COACH Syndrome is a rare genetic disorder that affects multiple organs and systems within the body. It is characterized by a wide range of symptoms that can vary significantly from one individual to another. The condition is caused by mutations in the TMEM67 gene, which plays a crucial role in the development and function of various parts of the body. Understanding the symptoms of COACH Syndrome is essential for early diagnosis and management of the condition. At DNA Labs UAE, we offer a comprehensive TMEM67 Gene COACH Syndrome Genetic Test for those who are at risk or exhibit symptoms of the disorder. The cost of the test is 4400 AED.
Symptoms of COACH Syndrome
COACH Syndrome is an acronym that stands for Cerebellar vermis hypoplasia/aplasia, Oligophrenia (developmental delay/ intellectual disability), Ataxia, Coloboma, and Hepatic fibrosis. The symptoms associated with COACH Syndrome can be classified based on the components of the acronym, along with additional manifestations observed in affected individuals.
Cerebellar Vermis Hypoplasia/Aplasia
The cerebellum is a part of the brain that plays a significant role in motor control, and its underdevelopment (hypoplasia) or absence (aplasia) can lead to coordination and balance problems. Individuals with COACH Syndrome may exhibit:
- Ataxia or lack of voluntary coordination of muscle movements
- Delayed motor skills development
- Difficulty walking or an abnormal gait
Oligophrenia (Intellectual Disability)
Many individuals with COACH Syndrome have some degree of intellectual disability, which can range from mild to severe. This may manifest as:
- Delayed speech and language development
- Difficulty with problem-solving and logical thinking
- Challenges in learning at the same pace as peers
Ataxia
As part of the COACH acronym, ataxia is a prominent feature and refers to the lack of muscle coordination. It affects various movements and can lead to:
- Unsteady walking
- Difficulty with fine motor tasks, such as writing or buttoning clothes
- Tremors or involuntary movements
Coloboma
Coloboma is a condition where normal tissue in or around the eye is missing from birth, which can affect one or both eyes. It can lead to:
- Visual impairments
- Issues with depth perception
- Increased sensitivity to light
Hepatic Fibrosis
Hepatic fibrosis is the excessive accumulation of scar tissue in the liver, which can impair the liver’s ability to function properly. Symptoms may include:
- Jaundice (yellowing of the skin and eyes)
- Enlarged liver
- Abdominal swelling due to fluid accumulation
Additional Symptoms
Besides the core symptoms described by the COACH acronym, individuals with COACH Syndrome may also experience:
- Respiratory problems
- Kidney abnormalities
- Heart defects
- Endocrine disorders, such as diabetes
TMEM67 Gene COACH Syndrome Genetic Test at DNA Labs UAE
Early diagnosis and intervention are crucial for managing COACH Syndrome effectively. The TMEM67 Gene COACH Syndrome Genetic Test provided by DNA Labs UAE is a vital tool for diagnosing this complex condition. The test, priced at 4400 AED, is designed to detect mutations in the TMEM67 gene that are responsible for the syndrome. By identifying these mutations, healthcare providers can offer targeted treatments and support to improve the quality of life for individuals with COACH Syndrome.
For more information on the TMEM67 Gene COACH Syndrome Genetic Test and to schedule your appointment, please visit our website at https://dnalabsuae.com/tests/tmem67-gene-coach-syndrome-genetic-test/.
