Medscape is available in 5 Language Editions – Choose your Edition here.


Hereditary Spastic Paraplegia Treatment & Management

  • Author: Nam-Jong Paik, MD, PhD; Chief Editor: Stephen Kishner, MD, MHA  more...
Updated: Apr 15, 2016

Approach Considerations

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.


Physical Therapy

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.

Contributor Information and Disclosures

Nam-Jong Paik, MD, PhD Chair, CardioCerebralVascular Center, Seoul National University Bundang Hospital; Professor, Department of Rehabilitation Medicine, Seoul National University College of Medicine

Disclosure: Nothing to disclose.


Jae-Young Lim, MD, PhD Associate Professor, Seoul National University College of Medicine, Seoul National University Bundang Hospital, South Korea

Jae-Young Lim, MD, PhD is a member of the following medical societies: American Association of Neuromuscular and Electrodiagnostic Medicine

Disclosure: Nothing to disclose.

Chief Editor

Stephen Kishner, MD, MHA Professor of Clinical Medicine, Physical Medicine and Rehabilitation Residency Program Director, Louisiana State University School of Medicine in New Orleans

Stephen Kishner, MD, MHA is a member of the following medical societies: American Academy of Physical Medicine and Rehabilitation, American Association of Neuromuscular and Electrodiagnostic Medicine

Disclosure: Nothing to disclose.


Kat Kolaski, MD Assistant Professor, Departments of Orthopedic Surgery and Pediatrics, Wake Forest University School of Medicine

Kat Kolaski, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine and American Academy of Physical Medicine and Rehabilitation

Disclosure: Nothing to disclose.

Teresa L Massagli, MD Professor of Rehabilitation Medicine and Pediatrics, University of Washington School of Medicine

Teresa L Massagli, MD is a member of the following medical societies: American Academy of Pediatrics, American Academy of Physical Medicine and Rehabilitation, and Association of Academic Physiatrists

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

  1. 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].

  2. 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].

  3. Reid E. Pure hereditary spastic paraplegia. J Med Genet. 1997 Jun. 34(6):499-503. [Medline]. [Full Text].

  4. 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].

  5. 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].

  6. 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].

  7. 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].

  8. 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].

  9. Depienne C, Stevanin G, Brice A, et al. Hereditary spastic paraplegias: an update. Curr Opin Neurol. 2007 Dec. 20(6):674-80. [Medline].

  10. 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].

  11. Fink JK. Advances in the hereditary spastic paraplegias. Exp Neurol. 2003 Nov. 184 Suppl 1:S106-10. [Medline].

  12. Tallaksen CM, Durr A, Brice A. Recent advances in hereditary spastic paraplegia. Curr Opin Neurol. 2001 Aug. 14(4):457-63. [Medline].

  13. Züchner S. The genetics of hereditary spastic paraplegia and implications for drug therapy. Expert Opin Pharmacother. 2007 Jul. 8(10):1433-9. [Medline].

  14. 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].

  15. 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].

  16. 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].

  17. Fink JK, Rainier S. Hereditary spastic paraplegia: spastin phenotype and function. Arch Neurol. 2004 Jun. 61(6):830-3. [Medline].

  18. 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].

  19. 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].

  20. 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].

  21. 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].

  22. 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].

  23. 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].

  24. 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].

  25. 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].

  26. Schady W, Smith CM. Sensory neuropathy in hereditary spastic paraplegia. J Neurol Neurosurg Psychiatry. 1994 Jun. 57(6):693-8. [Medline]. [Full Text].

  27. Schady W, Dick JP, Sheard A, Crampton S. Central motor conduction studies in hereditary spastic paraplegia. J Neurol Neurosurg Psychiatry. 1991 Sep. 54(9):775-9. [Medline]. [Full Text].

Photograph of a 16-year-old girl with complicated hereditary spastic paraplegia. She has a spastic gait disturbance, mental retardation, and extrapyramidal symptoms. Note the dysmorphic features.
Dysmorphic appearance of a 16-year-old girl with complicated hereditary spastic paraplegia. This patient displays a short stature (145 cm) and hair loss. Anterior (left), lateral (middle), and posterior (right) views are shown.
General appearance of sisters with complicated hereditary spastic paraplegia. They are aged 16 and 17 years. Physical examination revealed increased deep tendon reflexes in all 4 extremities, with an extensor plantar reflex. Sensory losses in the patients have affected mainly their joint positions and vibration sensations.
All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.