Hereditary Spastic Paraplegia: Diagnostic and Management Challenges in Resources-limited setting – A Case Report and Literature Review
Keywords:
Hereditary spastic paraplegia, Low and middle income countries, Genetic diagnosis, Lower limb spasticityAbstract
Hereditary spastic paraplegias (HSPs) are a group of genetically heterogeneous neurodegenerative disorders characterized primarily by progressive lower-limb spasticity. Diagnosis is often challenging in low- and middle-income countries (LMICs) due to limited access to advanced diagnostics and rehabilitation. We present a case of a 37-year-old male with progressive lower limb spasticity and gait abnormalities. Diagnostic efforts were hindered by the unavailability of genetic testing, financial constraints, and inaccurate family history due to low health literacy. Despite these challenges, a diagnosis of HSP was made based on clinical and radiological evaluation. This case highlights the diagnostic and management difficulties of HSPs in resource-limited settings and underscores the need for improved access to genetic testing and multidisciplinary care.
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Bellofatto M, De Michele G, Iovino A, Filla A, Santorelli FM. Management of hereditary spastic paraplegia: a systematic review of the literature. Front Neurol. 2019;10:
Priya S, Siddique N, Das R, Singh A. Multiparametric 3T MRI evaluation of hereditary spastic paraplegia: a case report. Indian Journal of Radiology and Imaging. 2016 Jul;26(03):328-31.
Coutinho P, Barros J, Zemmouri R, Guimarães J, Alves C, Chorão R, Lourenço E, Ribeiro P, Loureiro JL, Santos JV, Hamri A. Clinical heterogeneity of autosomal recessive spastic paraplegias: analysis of 106 patients in 46 families. Archives of neurology. 1999 Aug 1;56(8):943-9.
Reid E. The hereditary spastic paraplegias. J Neurol 1999;246:995‑1003.
Reid E. The hereditary spastic paraplegias. J Neurol 1999;246:995‑1003.
Suchowersky O, Ashtiani S, Au PY, McLeod S, Estiar MA, Gan-Or Z, Rouleau GA. Hereditary spastic paraplegia initially diagnosed as cerebral palsy. Clinical Parkinsonism & Related Disorders. 2021 Jan 1;5:100114.
Saputra L, Kumar KR. Challenges and controversies in the genetic diagnosis of hereditary spastic paraplegia. Curr Neurol Neurosci Rep. 2021;21:1–15.
Caceres V, Murray T, Myers C, Parbhoo K. Prenatal genetic testing and screening: a focused review. Semin Pediatr Neurol. 2022;42:100976
Krause A. New genetic testing technologies: advantages and limitations. S Afr Med J. 2019;109(4):207–9.
Carroll J, Wigby K, Murray S. Genetic testing strategies in the newborn. J Perinatol. 2020;40(7):1007–16.
Meshcheriakova A, Konovalova Z, Orlova O, Krasavina D, Yakovleva P, Artemyev D. IncobotulinumtoxinA Treatment For Hereditary Spastic Paraplegia: A Case Report. Toxicon. 2024 Jan 1;237:107458.
Dukhovny S, Norton ME. What are the goals of prenatal genetic testing?. InSeminars in perinatology 2018 Aug 1 (Vol. 42, No. 5, pp. 270-274). WB Saunders.
UAE Ministry of Health and Prevention. MOHAP announces mandatory genetic testing as part of premarital screening for Emiratis starting early January 2025 [Internet]. Dubai: MOHAP; 2025 [cited 2025 May 29]. Available from: https://mohap.gov.ae/en/w/mohap-announces-mandatory-genetic-testing-as-part-of-premarital-screening-for-emiratis-starting-early-january-2025
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