Evidence-Informed Pediatric Physiotherapy in Hallervorden-Spatz Disease: A Case Report

Abstract

Background: Hallervorden-Spatz Disease (HSD), an aggressive and rare form of Neurodegeneration with Brain Iron Accumulation (NBIA), has specific rehabilitation issues in its rapid neurodegenerative course and early loss of motor milestones. Physiotherapy literature still lacks the entire clinical and therapeutic profile of such patients. Case Summary: This article reports the lengthy, birth-end-of-life clinical history of an 11-year-old female patient with genetically established HSD. Her symptoms began in infancy, with feeding difficulties and delayed motor milestones noted by 6 months, and she died at age 11 in late 2024. She had severe dystonia, fixed postures, scoliosis, compromised respiration, and total dependence on all activities of daily living (ADLs). Standardized assessments and outcome measures — Functional Independence Measure for Children (WeeFIM), Gross Motor Function Measure – 88 (GMFM-88), Pantothenate Kinase-Associated Neurodegeneration – Activities of Daily Living Scale (PKAN-ADL), Manual Ability Classification System (MACS) and Communication Function Classification System (CFCS), Caregiver Quality of Life Index – Pediatric (CQOL-P) —were documented systematically. Intervention: A structured, evidence-based physiotherapy plan was initiated with task-based training in sitting, chest expansion, postural re-education, and caregiver-supervised home programs specific to her degenerating state. Conclusion: This is the first physiotherapy case report to comprehensively use longitudinal history, validated outcome measures, and evidence-based therapy in HSD, demonstrating the vital role of neurorehabilitation in the course of the disease.