Short Description

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterized by macrocephaly, diffuse and swollen cerebral hemispheric white matter, progressive motor dysfunction, spasticity, recurrent episodes of ataxia often with or without mental retardation and epileptic seizures. Onset of the MLC disease may be neonatal, childhood or very rarely in adulthood. Van der Knaap described the MLC1 pathogenic variant which has been identified in individuals from Japan, Finland, Turkey, Italy and India. In India, major cases have been reported from Bansal-Agarwal community in Agra and some cases from non-Agarwal communities. Accurate clinical diagnosis in most cases are difficult due to overlapping clinical manifestations with other leukodystrophies. The accurate diagnosis of the type of leukodystrophy is pivotal for the clinical management of the disease.

PreTest Information

Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.

Detail Description

MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS VAN DER KNAAP AND NALBAND MLC GENE HOTSPOT MUTATION Test

Megalenphalic Leukoencephalopathy with Subcortical Cysts Van der Knaap and Nalband MLC Gene Hotspot Mutation (MLC) is a rare genetic disorder that affects the brain and central nervous system. It is caused by mutations in the MLC1 or GLIALCAM genes, which control the production of a protein that helps maintain the myelin sheath that surrounds nerve fibers in the brain.

The disorder is characterized by the growth of cysts in the brain's white matter, which can cause damage to the brain's structure and function. Symptoms of MLC can vary widely, but generally include developmental delays, seizures, muscle weakness, and movement disorders. The condition is typically diagnosed through a combination of clinical evaluation, genetic testing, and brain imaging studies.

Symptoms of MLC

• Developmental delays
• Seizures
• Muscle weakness
• Movement disorders
• Speech and language impairments
• Visual and hearing impairments
• Behavioral problems
• Cognitive impairment

Diagnosing MLC

Diagnosing MLC usually involves a combination of clinical evaluation, genetic testing, and brain imaging studies. A thorough medical history and physical examination will be conducted to evaluate the patient's symptoms and rule out other possible causes. Genetic testing can confirm the presence of MLC1 or GLIALCAM gene mutations.

Brain imaging studies such as magnetic resonance imaging (MRI) or computed tomography (CT) scans can detect the presence of cysts in the brain's white matter. These imaging studies can also help evaluate the extent of brain damage and guide treatment decisions.

Test Cost

The cost for the MLC gene hotspot mutation test at DNA Labs India is INR 7500. This test is an important diagnostic tool for individuals suspected of having MLC and can help guide treatment decisions and genetic counseling.

Conclusion

MLC is a rare genetic disorder that can cause significant damage to the brain and central nervous system. Symptoms can vary widely and may include developmental delays, seizures, muscle weakness, and movement disorders. Diagnosing MLC typically involves a combination of clinical evaluation, genetic testing, and brain imaging studies. The MLC gene hotspot mutation test at DNA Labs India is an important tool for diagnosing this condition and can help guide treatment decisions and genetic counseling.

It is important to seek medical attention if you or a loved one is experiencing symptoms of MLC or any other neurological disorder. Early diagnosis and treatment can help improve outcomes and quality of life.

For more information about MLC or to schedule a consultation with a genetic counselor, contact DNA Labs India today.