Ataxia-Telangiectasia
Also known as: A-T, Louis-Bar Syndrome
A rare, inherited, progressive neurological disorder that typically appears in early childhood and causes increasing difficulties with movement, coordination, and immune function. Children with A-T usually begin walking at a typical age but experience progressive ataxia (loss of coordination), leading most to use wheelchairs by their second decade. The condition also affects arm motor control, making computer use increasingly challenging over time. A-T is caused by mutations in the ATM gene and has an average life expectancy of approximately 25 years. The progressive nature makes longitudinal motor assessment valuable for tracking disease progression and evaluating potential treatments.
Category: neurological conditions · rare diseases · progressive conditions · pediatric
Related: Ataxia · Motor Impairment · Progressive Disability