Rare genetic disorder claims dozens in Spanish family

Antonio Lamelas, a resident of Spain, has reported witnessing the deaths of 35 family members due to fatal familial insomnia (FFI), a rare and deadly genetic disorder. 

Lamelas’ son, Vicente, was among those affected, gradually losing the ability to walk, swallow, and control his body. Lack of sleep destroys the brain, causing rapid deterioration, El Periódico de España writes.

Neurologist Celia García Malo clarified that FFI is not ordinary insomnia, but a complete inability to fall asleep caused by a malfunction of the thalamus. The disorder typically manifests between the ages of 30 and 60 and leads to death within months. Symptoms include memory problems, motor disorders, hallucinations, and muscle twitching.

FFI is an autosomal dominant neurodegenerative disorder, marked by severe sleep disturbances, rapidly progressive dementia, and autonomic dysfunction. Its clinical features can vary significantly, making early diagnosis challenging. Doctors must carefully differentiate FFI from other conditions, such as autoimmune encephalitis and Creutzfeldt-Jakob disease.

Currently, there is no cure for FFI. 

By Sabina Mammadli