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Complicated hereditary spastic paraplegia — Clinical Guidelines

Overview

Complicated hereditary spastic paraplegia (HSP) is a group of genetic disorders characterized by progressive stiffness and weakness of the legs due to neuronal dysfunction, often leading to mobility impairments and additional neurological symptoms beyond simple spasticity. 9

Diagnosis

Clinical presentation of progressive spasticity and weakness primarily affecting lower limbs.

Genetic testing to identify specific mutations associated with HSP subtypes.

Neuroimaging (MRI) to rule out other conditions and assess brain and spinal cord changes. 9

Management

Physical therapy focusing on mobility and gait training.

Occupational therapy to enhance daily living skills and independence.

Orthopedic interventions such as bracing or surgical options for severe cases.

Management of secondary complications like urinary tract infections and contractures. 11

Special Populations

Pediatrics: Early intervention with multidisciplinary therapy teams is crucial for optimal outcomes. 11

Comorbidities: Attention to nutritional needs, particularly in managing obesity and sedentary lifestyle risks, as highlighted in dietary studies for children with disabilities. 5

Key Recommendations

Implement early and comprehensive multidisciplinary rehabilitation programs for children and adolescents with complicated HSP to improve functional outcomes. (Evidence: Moderate 11)

Ensure access to specialized obstetric and gynecologic care for women with HSP, adapting clinical practices to meet their unique needs and barriers. (Evidence: Moderate 1 2)

Monitor and address nutritional deficiencies, especially vitamin D status, given the increased risk in individuals with disabilities, though specific to PDB, general principles may apply. (Evidence: Weak 12)

References

1 . Access to Obstetric and Gynecologic Care for Patients With Disabilities: ACOG Committee Statement No. 18. Obstetrics and gynecology 2025. link 2 O'Brien KE, Rosen MW, Ernst SD. Obstetric and Gynecologic Care for Individuals with Disabilities. Obstetrics and gynecology clinics of North America 2024. link 3 Jones K, Rivera C, Bindas B, Woodard L, Perkins E. Sports: An underutilized tool for patients with disabilities. The Journal of family practice 2023. link 4 Casseus M, Cheng J, Cooney JM. Volunteering among youth with disabilities: a population-based study. Disability and rehabilitation 2023. link 5 Bakırhan H, Özkaya V, Pehlivan M. Mediterranean diet is associated with better gastrointestinal health and quality of life, and less nutrient deficiency in children/adolescents with disabilities. Frontiers in public health 2023. link 6 Rohwerder B, Wong S, Pokharel S, Khadka D, Poudyal N, Prasai S et al.. Describing adolescents with disabilities' experiences of COVID-19 and other humanitarian emergencies in low- and middle-income countries: a scoping review. Global health action 2022. link 7 Her Majesty Queen Mathilde. Parents of children with disabilities and the COVID-19 pandemic. Developmental medicine and child neurology 2021. link 8 Kardeş S, Levack W, Özkuk K, Atmaca Aydın E, Seringeç Karabulut S. Retractions in Rehabilitation and Sport Sciences Journals: A Systematic Review. Archives of physical medicine and rehabilitation 2020. link 9 Chan KL, Lo CKM, Ho FK, Ip P. Disability-Specific Associations with Child Health and Functioning. International journal of environmental research and public health 2019. link 10 Cheng LL, Levey S. Collaborative Approaches to the Support of People with Disabilities: The Underserved and Unserved. Folia phoniatrica et logopaedica : official organ of the International Association of Logopedics and Phoniatrics (IALP) 2019. link 11 Houtrow A, Murphy N. Prescribing Physical, Occupational, and Speech Therapy Services for Children With Disabilities. Pediatrics 2019. link 12 Rendina D, De Filippo G, Merlotti D, Di Stefano M, Succoio M, Muggianu SM et al.. Vitamin D Status in Paget Disease of Bone and Efficacy-Safety Profile of Cholecalciferol Treatment in Pagetic Patients with Hypovitaminosis D. Calcified tissue international 2019. link 13 Williams U, Rosenbaum P, Gorter JW, McCauley D, Gulko R. Psychometric properties and parental reported utility of the 19-item 'About My Child' (AMC-19) measure. BMC pediatrics 2018. link 14 Yoshikawa F, Tamaki Y, Okumura H, Miwa Z, Ishikawa M, Shimoyama K et al.. Risk factors with intravenous sedation for patients with disabilities. Anesthesia progress 2013. link 15 . Demonstrate provider accessibility with desktop and online services. Data strategies & benchmarks : the monthly advisory for health care executives 2001. link 16 Onuigbo WI. The Paget cell. Mistaken for a parasite in the 19th century. The American Journal of dermatopathology 1986. link

Complicated hereditary spastic paraplegia