Consensus Clinical Management Guideline for PLA2G6 -Associated Neurodegeneration (PLAN)

Résumé fourni par la source

associated neurodegeneration (PLAN). PLAN, a neurodegeneration with brain iron accumulation disorder, presents with infantile-onset (infantile neuroaxonal dystrophy), juvenile-onset, and adult-onset forms with motor, cognitive, ophthalmologic, and autonomic symptoms. This guideline was developed using a modified Delphi process with input from PLAN experts and family members of individuals with PLAN. A literature search was performed, although in the absence of data, recommendations were based on expert opinion. The guideline contains recommendations on diagnostic approach, disease-specific treatment, and symptom-based management.

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.