Ametia

Ametia is a rare genetic disorder characterized by the congenital absence oficeps muscles. This absence affects the ability to extend the forearm at the elbow. Individuals with ametia typically have a shortened upper arm and a fused elbow joint, making pronation and supination of the forearm impossible. The condition is bilateral in most cases, meaning both arms are affected. The underlying genetic cause is still being researched, but it is believed to involve mutations in genes crucial for limb development during fetal growth. Diagnosis is usually made at birth based on the physical presentation. Treatment options are limited and focus on improving functional independence. Therapeutic interventions may include occupational therapy to develop compensatory strategies and, in some instances, surgical procedures to improve elbow mobility or appearance. The severity of ametia can vary, with some individuals having more functional limitations than others. Despite the challenges, many people with ametia lead fulfilling lives by adapting and utilizing assistive devices.