Symptoms of POMK Gene Muscle-Eye-Brain Disease
Muscle-Eye-Brain (MEB) disease is a rare genetic disorder that affects the development of the muscles, eyes, and brain. This condition is caused by mutations in the POMK gene. The symptoms of MEB disease can vary significantly from one individual to another but generally include a combination of muscular, ocular, and neurological deficits.
One of the primary symptoms of MEB disease is muscle weakness, which can lead to delayed motor milestones such as sitting, standing, and walking. In some cases, individuals with MEB disease may never achieve these milestones. Muscle stiffness, or hypertonia, is also common, further complicating motor functions.
Visual impairments are another hallmark of MEB disease, stemming from structural abnormalities in the eyes. These can include nearsightedness, glaucoma, cataracts, and a condition known as retinal dysplasia, which can significantly impact vision.
Neurological symptoms are also prevalent in individuals with MEB disease due to brain abnormalities. These can include intellectual disability, seizures, and difficulties with coordination and balance. The severity of these symptoms can vary widely among affected individuals.
Other symptoms may include abnormalities in brain structure, such as a smooth brain surface (lissencephaly), cysts in the brain, and a smaller than normal brain size (microcephaly). These structural issues contribute to the neurological symptoms experienced by those with MEB disease.
POMK Related Genetic Test
To confirm a diagnosis of Muscle-Eye-Brain disease and identify the specific mutations in the POMK gene, genetic testing is necessary. DNA Labs UAE offers a comprehensive POMK Related Genetic Test designed to identify mutations in the POMK gene that are responsible for the condition. This test is critical for confirming the diagnosis, understanding the prognosis, and making informed decisions about the management and treatment of the disease.
The cost of the POMK Related Genetic Test at DNA Labs UAE is 4400 AED. This test is an important investment in the health and well-being of individuals showing symptoms of MEB disease, as it provides essential information for the management of the condition.
Conclusion
Muscle-Eye-Brain disease is a challenging condition that affects individuals from a young age, impacting their muscular, ocular, and neurological development. Recognizing the symptoms early and undergoing genetic testing for the POMK gene mutations is crucial for diagnosis and management. DNA Labs UAE offers a specialized genetic test for MEB disease, providing families and healthcare professionals with the information needed to address the condition effectively. With a cost of 4400 AED, this test is a valuable tool in the fight against Muscle-Eye-Brain disease.
- Muscle weakness and stiffness
- Delayed motor milestones
- Visual impairments including nearsightedness, glaucoma, cataracts, and retinal dysplasia
- Neurological symptoms such as intellectual disability, seizures, and coordination difficulties
- Brain abnormalities including lissencephaly, cysts, and microcephaly
