Understanding Caregiver Descriptions of Initial Signs and Symptoms to Improve Diagnosis of Metachromatic Leukodystrophy

How Recognizing Signs Can Lead to Earlier Diagnosis and Intervention in MLD Patients

This study captures the caregiver description of the physical, behavioral, and cognitive signs of MLD prior to diagnosis. The understanding of the caregiver language at symptom onset sheds light on a critical window of often missed opportunity for earlier diagnosis and therapeutic intervention in MLD.