Hereditary Spastic Paraplegia Treatment & Management
- Author: Nam-Jong Paik, MD, PhD; Chief Editor: Stephen Kishner, MD, MHA more...
Currently, no specific treatment exists to prevent, retard, or reverse progressive disability in patients with hereditary spastic paraplegia (HSP). Nonetheless, treatment approaches used for chronic paraplegia from other causes are useful.
Regular physical therapy (PT) is important for maintaining and improving range of motion (ROM) and muscle strength, as well as for maintaining aerobic conditioning of the cardiovascular system.
Consultations in HSP can include a physical medicine and rehabilitation specialist and a neurologist.
As stated previously, regular PT is important for maintaining and improving ROM and muscle strength. Furthermore, PT is necessary to maintain aerobic conditioning of the cardiovascular system. Although PT does not reduce the degenerative process within the spinal cord, individuals with HSP must maintain an exercise regimen performed at least several times each week, as guided by their physical therapist.
Exercise can help the patient to retain or improve muscle strength, minimize atrophy of the muscles caused by disuse, increase endurance, reduce fatigue, prevent spasms and cramps, and maintain or improve ROM. Exercise also has a positive psychological effect, helping to reduce stress and produce feelings of well-being.
Patients with HSP may experience spasticity and weakness (ie, increased muscle tone and reduced muscle strength). Because of the increased resistance to passive stretching, spasticity may make it difficult for patients to exercise certain muscles. Antispasmodic drugs may help the patient to reduce the spasticity and may allow weakened muscles to be targeted in order to improve the effectiveness of PT.
Types of exercises
The types of exercise incorporated into PT programs for patients with HSP may include strengthening, stretching, and aerobic exercises.
Strengthening exercises help to strengthen muscles that have not yet weakened. Strengthened muscles help to compensate for muscles that have weakened, decreasing the rate of functional impairment. Exercise may also help to slow the development of disuse atrophy, which occurs in muscles that are not being used (eg, in calf muscles of people who use wheelchairs). Back-strengthening exercises may help to reduce or eliminate back pain associated with HSP. Such pain is probably not due to HSP itself but to strain on the back resulting from HSP (eg, poor gait, poor posture, use of a mobility device).
Stretching exercises help to maintain or increase ROM and to reduce such problems as tendinitis, bursitis, and muscle cramps.
Aerobic exercises improve cardiovascular fitness, reduce fatigue, and increase endurance and general fitness. Walking, bicycle riding, water aerobics, and swimming are among many excellent forms of aerobic exercise.
Tesson C, Koht J, Stevanin G. Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology. Hum Genet. 2015 Jun. 134 (6):511-38. [Medline]. [Full Text].
Sawhney IM, Bansal SK, Upadhyay PK, et al. Evoked potentials in hereditary spastic paraplegia. Ital J Neurol Sci. 1993 Sep. 14(6):425-8. [Medline].
Salinas S, Proukakis C, Crosby A, Warner TT. Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. Lancet Neurol. 2008 Dec. 7(12):1127-38. [Medline].
Schule R, Wiethoff S, Martus P, et al. Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients. Ann Neurol. 2016 Apr. 79 (4):646-58. [Medline].
Tarrade A, Fassier C, Courageot S, Charvin D, Vitte J, Peris L. A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition. Hum Mol Genet. 2006 Dec 15. 15(24):3544-58. [Medline].
Sanderson CM, Connell JW, Edwards TL, Bright NA, Duley S, Thompson A. Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners. Hum Mol Genet. 2006 Jan 15. 15(2):307-18. [Medline].
Nolden M, Ehses S, Koppen M, Bernacchia A, Rugarli EI, Langer T. The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria. Cell. 2005 Oct 21. 123(2):277-89. [Medline].
Depienne C, Stevanin G, Brice A, et al. Hereditary spastic paraplegias: an update. Curr Opin Neurol. 2007 Dec. 20(6):674-80. [Medline].
Agosta F, Scarlato M, Spinelli EG, et al. Hereditary Spastic Paraplegia: Beyond Clinical Phenotypes toward a Unified Pattern of Central Nervous System Damage. Radiology. 2015 Jul. 276 (1):207-18. [Medline].
Fink JK. Advances in the hereditary spastic paraplegias. Exp Neurol. 2003 Nov. 184 Suppl 1:S106-10. [Medline].
Tallaksen CM, Durr A, Brice A. Recent advances in hereditary spastic paraplegia. Curr Opin Neurol. 2001 Aug. 14(4):457-63. [Medline].
Züchner S. The genetics of hereditary spastic paraplegia and implications for drug therapy. Expert Opin Pharmacother. 2007 Jul. 8(10):1433-9. [Medline].
Paisan-Ruiz C, Dogu O, Yilmaz A, et al. SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia. Neurology. 2008 Apr 15. 70(16 Pt 2):1384-9. [Medline].
Blackstone C, O'Kane CJ, Reid E. Hereditary spastic paraplegias: membrane traffic and the motor pathway. Nat Rev Neurosci. 2011 Jan. 12(1):31-42. [Medline].
Hazan J, Fonknechten N, Mavel D, et al. Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat Genet. 1999 Nov. 23(3):296-303. [Medline].
Fink JK, Rainier S. Hereditary spastic paraplegia: spastin phenotype and function. Arch Neurol. 2004 Jun. 61(6):830-3. [Medline].
Orlacchio A, Patrono C, Gaudiello F, et al. Silver syndrome variant of hereditary spastic paraplegia: A locus to 4p and allelism with SPG4. Neurology. 2008 May 20. 70(21):1959-66. [Medline].
Tzoulis C, Denora PS, Santorelli FM, et al. Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene. J Neurol. 2008 Jun 23. [Medline].
Stevanin G, Santorelli FM, Azzedine H, Coutinho P, Chomilier J, Denora PS. Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet. 2007 Mar. 39(3):366-72. [Medline].
Steinmüller R, Lantigua-Cruz A, Garcia-Garcia R, Kostrzewa M, Steinberger D, Müller U. Evidence of a third locus in X-linked recessive spastic paraplegia. Hum Genet. 1997 Aug. 100(2):287-9. [Medline].
Fink JK, Heiman-Patterson T, Bird T, et al. Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working Group. Neurology. 1996 Jun. 46(6):1507-14. [Medline].
Hazan J, Lamy C, Melki J, et al. Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q. Nat Genet. 1993 Oct. 5(2):163-7. [Medline].
Appleton RE, Farrell K, Dunn HG. Pure' and 'complicated' forms of hereditary spastic paraplegia presenting in childhood. Dev Med Child Neurol. 1991 Apr. 33(4):304-12. [Medline].
Schlipf N, Schüle R, Klimpe S, Karle K, Synofzik M, Schicks J, et al. Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients. Clin Genet. 2011 Aug. 80(2):148-60. [Medline].