Saratov JOURNAL of Medical and Scientific Research

Hereditary spastic paraplegia (clinical cases)

Year: 2022, volume 18 Issue: №1 Pages: 97-102
Heading: Тhematic supplement Article type: Case report
Authors: Akhmadeeva L.R., Izhbuldina K.R., Gizatullin R.R., Derevyanko Kh.P., Sharipova A.Sh., Akhmadeeva E.N.
Organization: Bashkir State Medical University of the Russian Health Care

In this paper, we present three clinical cases of patients whom we observed with genetically proven familial cases of hereditary spastic paraplegia caused by mutations in SPG4 gene. We give detailed clinical descriptions, pedigrees and discuss these patients comparing them with data published in Russian and international journals. The considered clinical cases attract attention with manifestations that are not often encountered in practice (cognitive deficiency, limbs malformations), and demonstrate additional possibilities for symptomatic relief using botulinum toxin therapy to alleviate muscle spasticity in the legs. All patients registered a positive effect.

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