adult-onset progressive leukoencephalopathy-early-onset deafness

Adult-onset progressive leukoencephalopathy-early-onset deafness is a rare genetic neurological disorder. It is characterized by congenital or early-onset sensorineural deafness that is present from birth or early childhood, and later in life, adults develop progressive changes in the white matter of the brain (leukoencephalopathy). These brain changes may be accompanied by worsening thinking skills and behavior alterations that usually start during the second or third decade of life. Some individuals may also have a history of mild developmental delay or learning difficulties during childhood, and there have been reports of visual challenges appearing in later years. Importantly, while many changes are observed in the brain and cognition, no central nervous system calcification has been reported with this condition.

Common features include early sensorineural deafness, which means hearing loss that begins at birth or early in life. In adulthood, people with this condition may develop progressive changes in the brain's white matter that lead to cognitive decline and behavioral changes. Some may have experienced mild developmental delays or learning difficulties, and there have been reports of visual problems later in life.

This condition is recognized as a genetic disorder, indicating that it is inherited. However, no specific gene or genetic mutation has been clearly identified in the available information. The genetic aspect underlies both the early-onset deafness and the later development of neurological symptoms.

Information about treatment options and management approaches is currently limited for this condition.

The condition tends to progress over time, with worsening cognitive impairment and behavioral changes beginning in early adult life. The long-term outlook and quality of life for people with this condition are not fully defined in the current information.

Information about current research and future directions is currently limited for this condition.