MTCH2

MTCH2, also known as Metachromatic Leukodystrophy 2, is a genetic disorder that affects the nervous system. It is caused by mutations in the MTCH2 gene, which is located on chromosome 11. The MTCH2 gene provides instructions for making a protein that plays a crucial role in the breakdown of lipids, which are essential for the structure and function of the brain and spinal cord.

The primary symptom of MTCH2 is progressive cognitive decline, which can lead to severe intellectual disability and behavioral problems. Other symptoms may include ataxia (difficulty with coordination and balance), spasticity (stiffness and spasms in the muscles), and vision problems. The severity and progression of these symptoms can vary greatly among individuals.

MTCH2 is inherited in an autosomal recessive manner, meaning that a person must inherit two mutated copies of the MTCH2 gene, one from each parent, to develop the disorder. Individuals who carry one mutated copy of the MTCH2 gene are typically unaffected and are referred to as carriers.

There is currently no cure for MTCH2, but treatment focuses on managing symptoms and improving quality of life. This may include physical therapy, occupational therapy, speech therapy, and medications to control symptoms such as spasticity and seizures. Research is ongoing to better understand the underlying mechanisms of MTCH2 and to develop potential treatments.