3.4.BPS3 Best practice statement

Individuals with Friedreich ataxia, families and caregivers should be educated to monitor…

Published June 23, 2022

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Individuals with Friedreich ataxia, families and caregivers should be educated to monitor the development of spasticity and incipient contractures.

Part of 3.4 Spasticity and spasms in Friedreich ataxia

References (47)

1. Klockgether T, Chamberlain S, Wullner U, Fetter M, Dittmann H, Petersen D, et al. Late-onset Friedreich's ataxia. Molecular genetics, clinical neurophysiology, and magnetic resonance imaging. Arch Neurol. 1993;50(8):803-6.

2. Bhidayasiri R, Perlman SL, Pulst SM, Geschwind DH. Late-onset Friedreich ataxia: phenotypic analysis, magnetic resonance imaging findings, and review of the literature. Arch Neurol. 2005;62(12):1865-9.

3. Geoffroy G, Barbeau A, Breton G, Lemieux B, Aube M, Leger C, et al. Clinical description and roentgenologic evaluation of patients with Friedreich's ataxia. Can J Neurol Sci. 1976;3(4):279-86.

4. Harding AE. Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain. 1981;104(3):589-620.

5. Montermini L, Andermann E, Labuda M, Richter A, Pandolfo M, Cavalcanti F, et al. The Friedreich ataxia GAA triplet repeat: premutation and normal alleles. Hum Mol Genet. 1997;6(8):1261-6.

6. Badhwar A, Jansen A, Andermann F, Pandolfo M, Andermann E. Striking intrafamilial phenotypic variability and spastic paraplegia in the presence of similar homozygous expansions of the FRDA1 gene. Mov Disord. 2004;19(12):1424-31.

7. Milne SC, Corben LA, Yiu E, Delatycki MB, Georgiou-Karistianis N. Gastrocnemius and soleus spasticity and muscle length in Friedreich's ataxia. J Clin Neurosci. 2016;29:29-34.

8. Corben LA, Yiu EM, Tai G, Milne SC, Lynch B, Delatycki MB. Probing the multifactorial source of hand dysfunction in Friedreich ataxia. J Clin Neurosci. 2019;64:71-6.

9. Ragno M, De Michele G, Cavalcanti F, Pianese L, Monticelli A, Curatola L, et al. Broadened Friedreich's ataxia phenotype after gene cloning. Minimal GAA expansion causes late-onset spastic ataxia. Neurology. 1997;49(6):1617-20.

10. Gates PC, Paris D, Forrest SM, Williamson R, Gardner RJ. Friedreich's ataxia presenting as adult-onset spastic paraparesis. Neurogenetics. 1998;1(4):297-9.

11. Coppola G, De Michele G, Cavalcanti F, Pianese L, Perretti A, Santoro L, et al. Why do some Friedreich's ataxia patients retain tendon reflexes? A clinical, neurophysiological and molecular study. J Neurol. 1999;246(5):353-7.

12. Richter A, Poirier J, Mercier J, Julien D, Morgan K, Roy M, et al. Friedreich ataxia in Acadian families from eastern Canada: clinical diversity with conserved haplotypes. Am J Med Genet. 1996;64(4):594-601.

13. Barbeau A. The Quebec Cooperative Study of Friedreich's Ataxia: 1974-1984--10 years of research. Can J Neurol Sci. 1984;11(4 Suppl):646-60.

14. Gellera C, Castellotti B, Mariotti C, Mineri R, Seveso V, Didonato S, et al. Frataxin gene point mutations in Italian Friedreich ataxia patients. Neurogenetics. 2007;8(4):289-99.

15. Cossée M, Dürr A, Schmitt M, Dahl N, Trouillas P, Allinson P, et al. Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes. Ann Neurol. 1999;45(2):200-6.

16. Corben LA, Yiu EM, Tai G, Milne SC, Lynch B, Delatycki MB. Probing the multifactorial source of hand dysfunction in Friedreich ataxia. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. 2019;64:71-6.

17. Ben Smail D, Jacq C, Denys P, Bussel B. Intrathecal baclofen in the treatment of painful, disabling spasms in Friedreich's ataxia. Mov Disord. 2005;20(6):758-9.

18. National Clinical Guideline Centre (UK). Multiple Sclerosis: Management of Multiple Sclerosis in Primary and Secondary Care. London: National Institute for Health and Care Excellence (UK); 2014 [Available from: https://www.ncbi.nlm.nih.gov/books/NBK328181/.

19. Shakespeare DT, Boggild M, Young C. Anti-spasticity agents for multiple sclerosis. Cochrane Database Syst Rev. 2003(4):CD001332.

20. Amatya B, Khan F, La Mantia L, Demetrios M, Wade DT. Non pharmacological interventions for spasticity in multiple sclerosis. Cochrane Database Syst Rev. 2013(2):CD009974.

21. Taricco M, Adone R, Pagliacci C, Telaro E. Pharmacological interventions for spasticity following spinal cord injury. Cochrane Database Syst Rev. 2000(2):CD001131.

22. Ashworth NL, Satkunam LE, Deforge D. Treatment for spasticity in amyotrophic lateral sclerosis/motor neuron disease. Cochrane Database Syst Rev. 2012(2):CD004156.

23. Ade-Hall RA, Moore AP. Botulinum toxin type A in the treatment of lower limb spasticity in cerebral palsy. Cochrane Database Syst Rev. 2000(2):CD001408.

24. Hoare BJ, Wallen MA, Imms C, Villanueva E, Rawicki HB, Carey L. Botulinum toxin A as an adjunct to treatment in the management of the upper limb in children with spastic cerebral palsy (UPDATE). Cochrane Database Syst Rev. 2010(1):CD003469.

25. Thompson AJ, Jarrett L, Lockley L, Marsden J, Stevenson VL. Clinical management of spasticity. J Neurol Neurosurg Psychiatry. 2005;76(4):459-63.

26. Abbruzzese G. The medical management of spasticity. Eur J Neurol. 2002;9 Suppl 1:30-4; discussion 53-61.

27. Stevenson VL. Rehabilitation in practice: Spasticity management. Clin Rehabil. 2010;24(4):293-304.

28. Groves L, Shellenberger MK, Davis CS. Tizanidine treatment of spasticity: a meta-analysis of controlled, double-blind, comparative studies with baclofen and diazepam. Adv Ther. 1998;15(4):241-51.

29. US Food and Drug Administration. New risk management plan and patient Medication Guide for Qualaquin (quinine sulfate) 2010 [Available from: https://www.fda.gov/drugs/postmarket-drug-safety-information-patients-and-providers/fda-drug-safety-communication-new-risk-management-plan-and-patient-medication-guide-qualaquin.

30. Karst M, Wippermann S, Ahrens J. Role of cannabinoids in the treatment of pain and (painful) spasticity. Drugs. 2010;70(18):2409-38.

31. Collin C, Davies P, Mutiboko IK, Ratcliffe S, Sativex Spasticity in MSSG. Randomized controlled trial of cannabis-based medicine in spasticity caused by multiple sclerosis. Eur J Neurol. 2007;14(3):290-6.

32. Zajicek J, Fox P, Sanders H, Wright D, Vickery J, Nunn A, et al. Cannabinoids for treatment of spasticity and other symptoms related to multiple sclerosis (CAMS study): multicentre randomised placebo-controlled trial. Lancet. 2003;362(9395):1517-26.

33. Olver J, Esquenazi A, Fung VS, Singer BJ, Ward AB, Cerebral Palsy I. Botulinum toxin assessment, intervention and aftercare for lower limb disorders of movement and muscle tone in adults: international consensus statement. Eur J Neurol. 2010;17 Suppl 2:57-73.

34. Yablon SA, Brashear A, Gordon MF, Elovic EP, Turkel CC, Daggett S, et al. Formation of neutralizing antibodies in patients receiving botulinum toxin type A for treatment of poststroke spasticity: a pooled-data analysis of three clinical trials. Clin Ther. 2007;29(4):683-90.

35. Greene P, Fahn S, Diamond B. Development of resistance to botulinum toxin type A in patients with torticollis. Mov Disord. 1994;9(2):213-7.

36. Tilton A, Vargus-Adams J, Delgado MR. Pharmacologic treatment of spasticity in children. Semin Pediatr Neurol. 2010;17(4):261-7.

37. Milne SC, Corben LA, Georgiou-Karistianis N, Delatycki MB, Yiu EM. Rehabilitation for individuals with genetic degenerative ataxia: A systematic review. Neurorehabil Neural Repair. 2017;31(7):609-22.

38. Rodriguez-Diaz JC, Velazquez-Perez L, Rodriguez Labrada R, Aguilera Rodriguez R, Laffita Perez D, Canales Ochoa N, et al. Neurorehabilitation therapy in spinocerebellar ataxia type 2: A 24-week, rater-blinded, randomized, controlled trial. Mov Disord. 2018;33(9):1481-7.

39. Katalinic OM, Harvey LA, Herbert RD, Moseley AM, Lannin NA, Schurr K. Stretch for the treatment and prevention of contractures. Cochrane Database Syst Rev. 2010(9):CD007455.

40. Paleg G, Livingstone R. Systematic review and clinical recommendations for dosage of supported home-based standing programs for adults with stroke, spinal cord injury and other neurological conditions. BMC Musculoskelet Disord. 2015;16:358.

41. Richardson D. Physical therapy in spasticity. Eur J Neurol. 2002;9 Suppl 1:17-22; dicussion 53-61.

42. Delatycki MB, Holian A, Corben L, Rawicki HB, Blackburn C, Hoare B, et al. Surgery for equinovarus deformity in Friedreich’s ataxia improves mobility and independence. Clin Orthop Relat Res. 2005;430:138-41.

43. Lazorthes Y, Sol JC, Sallerin B, Verdie JC. The surgical management of spasticity. Eur J Neurol. 2002;9 Suppl 1:35-41; dicussion 53-61.

44. Kinnear BZ, Lannin NA, Cusick A, Harvey LA, Rawicki B. Rehabilitation therapies after botulinum toxin-A injection to manage limb spasticity: a systematic review. Phys Ther. 2014;94(11):1569-81.

45. de Silva RN, Greenfield J, Cook A, Bonney H, Vallortigara J, Hunt B, et al. Guidelines on the diagnosis and management of progressive ataxia in adults. Orphanet J Rare Dis. 2019;14:51.

46. Benussi A, Pascual-Leone A, Borroni B. Non-invasive cerebellar stimulation in neurodegenerative ataxia: A literature review. Int J Mol Sci. 2020;21(6).

47. Leo A, Naro A, Molonia F, Tomasello P, Saccà I, Bramanti A, et al. Spasticity management: The current state of transcranial neuromodulation. PM R. 2017;9(10):1020-9.

Disclaimer, intended use and funding

Disclaimer
The Clinical Management Guidelines for Friedreich ataxia (‘Guidelines’) are protected by copyright owned by the authors who contributed to their development or said authors’ assignees.

These Guidelines are systematically developed evidence statements incorporating data from a comprehensive literature review of the most recent studies available (up to the Guidelines submission date) and reviewed according to the Grading of Recommendations, Assessment Development and Evaluations (GRADE) framework © The Grade Working Group.

Guidelines users must seek out the most recent information that might supersede the diagnostic and treatment recommendations contained within these Guidelines and consider local variations in clinical settings, funding and resources that may impact on the implementation of the recommendations set out in these Guidelines.

The authors of these Guidelines disclaim all liability for the accuracy or completeness of the Guidelines, and disclaim all warranties, express or implied to their incorrect use.

Intended Use
These Guidelines are made available as general information only and do not constitute medical advice. These Guidelines are intended to assist qualified healthcare professionals make informed treatment decisions about the care of individuals with Friedreich ataxia. They are not intended as a sole source of guidance in managing issues related to Friedreich ataxia. Rather, they are designed to assist clinicians by providing an evidence-based framework for decision-making.

These Guidelines are not intended to replace clinical judgment and other approaches to diagnosing and managing problems associated with Friedreich ataxia which may be appropriate in specific circumstances. Ultimately, healthcare professionals must make their own treatment decisions on a case-by-case basis, after consultation with their patients, using their clinical judgment, knowledge and expertise.
Guidelines users must not edit or modify the Guidelines in any way – including removing any branding, acknowledgement, authorship or copyright notice.

Funding
The authors of this document gratefully acknowledge the support of the Friedreich Ataxia Research Alliance (FARA). The views and opinions expressed in the Guidelines are solely those of the authors and do not necessarily reflect the official policy or position of FARA.