Because FEM1C-related neurodevelopmental conditions have only very recently been described (the first reported case appeared in 2023), there are currently no specific guidelines for managing or mitigating symptoms, and no established surveillance recommendations. Standard care must therefore be individualized and may involve:
• Multidisciplinary support to address developmental delay, which could include physical therapy, occupational therapy, and speech therapy.
• Symptomatic management for spasticity and ataxia (e.g., medical treatments and adaptive devices) based on clinical judgment.
• Periodic neurologic evaluations to monitor disease progression and adapt interventions as needed.
• Genetic testing and counseling for patients and their families to better understand inheritance patterns and the implications of FEM1C variants.
As more cases are identified and additional data become available, recommendations for FEM1C-specific therapies, follow-up schedules, and best practices for surveillance may become clearer.
FEM1C