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1324 - Hereditary Spastic Paraplegia - Rehabilitation and Outcomes: A Case Series

Friday, February 28, 2025

5:00 PM - 6:30 PM MST

Presenting Author(s)

YC

Yelim Chung, MD

Resident Physician
NYP Columbia-Cornell Rehabilitation Medicine
Long Island City, New York, United States

Co-Author(s)

Vera A. Tsetlina, MD

Medical Director of Pediatric Physiatry
Westchester Medical Center, New York Medical College
Ossining, New York, United States
EB

Elisabeth Bates, BSN, MSN, CPNP

Pediatric Nurse Practitioner
Columbia University Medical Center
Ridgewood, New York, United States
Hana Azizi, MD, MPH

Director and Fellowship Director, Pediatric Rehabilitation Medicine
Columbia University Medical Center, NYP
New York, New York, United States

Case Diagnosis: This case series provides a unique longitudinal review of the clinical and rehabilitation courses of 5 patients with hereditary spastic paraplegia.

Case Description: Hereditary spastic paraplegias are a group of genetically and clinically diverse neurological disorders characterized by retrograde axonal degeneration involving the long corticospinal tracts. Clinical hallmarks include slowly progressive lower-limb spasticity, weakness, and hyperreflexia. Currently, there are no known curative or disease-modifying treatments for HSP. We performed a retrospective review of five patients with HSP followed in our rehabilitation clinic. We highlight the clinical variability amongst onset of symptoms, progression of disease, and functional limitations and discuss the unique rehabilitation needs of each patient.

Discussions: Patients were diagnosed as early as 2 years of age, with time from initial symptoms to diagnosis ranging from 2 to 10 years. Four patients had pure forms of HSP with primarily neuromuscular symptoms and developmental delay. Hypertonia was shared amongst these patients, most of them primarily with spasticity in the lower extremities. Functionally, patients demonstrated a range of abilities from being ambulatory with UCBLs to being non ambulatory. All patients received physical, occupational and speech therapies and were followed by a multidisciplinary care team. For tone management, four patients received repeat cycles of botulinum toxin injections, with and without phenol. Botulinum toxin A doses varied from 5.2 to 20 units/kg. All patients responded with a temporary reduction of tone and enhanced brace fit, allowing for improved ambulation and ease of care.

Conclusions: HSP encompasses a broad spectrum of neuromuscular disorders characterized by diverse clinical manifestations and symptom progression. The progressive nature of HSP makes rehabilitation of these patients a moving target. We advocate for a multidisciplinary, patient-centered and family-oriented approach for the treatment of this condition. Additionally, botulinum toxin and phenol chemoneurolysis use in this patient population may be relatively safe and effective.