PelizaeusaMerzbacha

Pelizaeus-Merzbacher disease (PMD) is a rare, inherited neurological disorder that affects the nervous system. It is caused by mutations in the gene responsible for producing myelin, a fatty substance that insulates nerve fibers and allows for rapid transmission of nerve impulses. Without sufficient myelin, nerve signals are not transmitted properly, leading to a range of neurological symptoms. PMD is part of a group of disorders known as leukodystrophies, which are characterized by the abnormal development or maintenance of myelin.

The symptoms of PMD typically appear in infancy and can vary in severity. Common signs include developmental delays, poor muscle tone (hypotonia), involuntary eye movements (nystagmus), muscle spasms, and difficulties with coordination and balance. As the disease progresses, individuals may experience vision impairment, intellectual disability, and seizures. In severe cases, PMD can be fatal within the first few years of life, while milder forms may allow individuals to live into adolescence or adulthood with significant disabilities.

PMD is inherited in an X-linked recessive pattern, meaning it primarily affects males. Females can be carriers of the gene mutation but usually do not exhibit symptoms, although some may have milder manifestations. Diagnosis is typically made through a combination of clinical evaluation, neuroimaging studies such as MRI, and genetic testing to confirm the presence of mutations in the relevant gene. Currently, there is no cure for PMD, and treatment focuses on managing symptoms and providing supportive care to improve quality of life. Research is ongoing to explore potential therapeutic interventions aimed at addressing the underlying cause of the disease.