Overview
Through a prospective cohort study, we aim to dynamically evaluate the long-term benefits and risks associated with surgical interventions for hereditary spastic paraparesis (HSP) accompanied by foot deformities. Our goal is to systematically summarize clinical experiences to guide practice and ultimately optimize patient outcomes.
The core research objectives include elucidating:
- the long-term efficacy of foot deformity correction procedures;
- the optimal timing for surgical intervention;
- the establishment of objective evaluation criteria to guide therapeutic decision-making.
Description
Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder characterized by axonal degeneration of the corticospinal tract. This degeneration often leads to foot deformities such as equinovarus, cavus foot, and Achilles tendon contracture, which result from lower limb spasticity and muscular imbalance. These deformities result in gait abnormalities, uneven plantar pressure distribution, and secondary osteoarticular damage, which significantly impair motor function and quality of life. Surgical correction serves as the primary intervention to address fixed deformities and delay disease progression.This prospective, open-label, single-center study aims to evaluate the long-term functional outcomes of surgical treatment for HSP-related foot deformities, determine the optimal timing for surgical intervention, and establish objective evaluation criteria. Over a 2-year period, 100 patients aged 10-45 years with HSP-confirmed isolated Achilles tendon contracture or equinovarus cavus foot deformity will be enrolled in the study. Eligible patients must exhibit progressive deformity refractory to conservative therapy, accompanied by walking pain, frequent falls, and significant quality-of-life impairment. They must also retain the ability to walk independently or with assistive devices for at least 10 meters. All participants will undergo regular clinical assessments.
Eligibility
Inclusion Criteria:
- Age: 10 to 45 years old.
- Clinically and molecular genetically confirmed diagnosis of hereditary spastic paraparesis (HSP) with either isolated Achilles tendon contracture or equinovarus cavus deformity.
- Radiographic (X-ray) or computed tomography (CT) evidence confirming the presence of isolated Achilles tendon contracture or equinovarus cavus deformity.
- Signed informed consent form by patients/legal guardians for voluntary participation in the clinical study, with full comprehension of and commitment to study protocols .
- Suboptimal response to standard conservative treatments (pharmacotherapy and/or rehabilitative exercise programs) with progressive worsening of gait abnormalities and foot deformities .
- Functional impairment secondary to isolated Achilles tendon contracture or equinovarus cavus deformity, manifesting as ambulatory pain, frequent falls, and significant quality-of-life limitations.
- Ability to ambulate barefoot for 10 meters independently or with assistive devices.
Exclusion Criteria:
- Prior history of foot and ankle orthopedic surgery.
- Severe cognitive impairment or an inability to adhere to postoperative protocols and functional assessments.
- Isolated Achilles tendon contracture or equinovarus cavus deformity resulting from definitive etiologies (e.g., diabetes mellitus, infectious arthritis, or inflammatory arthropathy).
- Significant peripheral vascular disease or clinically significant unstable medical conditions, including malignancies, hematologic disorders, and cardiopulmonary, hepatic, or renal insufficiency.
- Coexisting neurodegenerative or neuromuscular disorders that are unrelated to hereditary spastic paraplegia (HSP).
- Poor compliance with study requirements or other contraindications to participation in clinical trials.