Topic 10.3. Assessing nutritional status in Friedreich ataxia

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This chapter of the Clinical Management Guidelines for Friedreich Ataxia and the recommendations and best practice statements contained herein were endorsed by the authors and the Friedreich Ataxia Guidelines Panel in 2022.

Topic Contents

10.3 Assessing nutritional status in Friedreich ataxia
10.3.1 Nutrition and Friedreich ataxia
10.3.2 Body mass index thresholds

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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.

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.

10.3 Assessing nutritional status in Friedreich ataxia

Jaclyn ‎Tamaroff, Andreas Eigentler, David R. Weber, Miriam Cnop and Shana E. McCormack

10.3.1 Nutrition and Friedreich ataxia

While there are limited data specifically related to Friedreich ataxia (FRDA), ensuring optimal nutrition is critical for any individual with a chronic medical condition. Body mass index (BMI) is frequently used in clinical practice to screen for undernutrition or over-nutrition, with specific cut-off values defined by the WHO (67). However, BMI is often missing from visits recorded in the FA-COMS study (5) and individuals with higher modified FRDA Rating Scale (mFARS) scores and/or who are non-ambulatory are less likely to have measurements recorded at visits (68). The reason for neglecting to measure BMI routinely may be due to difficulties in measuring height in individuals with FRDA. In another study, a cross-sectional analysis including anthropometric measurements in FRDA (n=158, 109 adults, 49 children) found that 20% of children were underweight, with BMI at or below the fifth percentile (3). Similarly, baseline characteristics in the FACOMS reported that 17% of children (42/253) were underweight and 33% of adults (105/317) were overweight or obese (BMI ≥ 25 kg/m2) (68). A smaller study reported that 7/16 individuals with FRDA were overweight and 1/16 was severely obese (14).

10.3.2 Body mass index thresholds

BMI may not be the optimal reflection of body composition (7), particularly when compared to results from detailed assessments typically available in the research setting; however, measuring BMI is a practical way to perform an initial screen for nutritional status in a clinical setting. Standard BMI thresholds, as defined by the WHO or country specific, that are used in the general population are also used in individuals with other disorders impacting the mitochondria. For example, one report using BMI notes a high prevalence of undernutrition in children with genetic mitochondrial diseases, and also a substantial prevalence of overweight or obesity in adults with the same disorders (69, 70). Therefore, we recommend assessing BMI annually in individuals with FRDA. We also suggest beginning with reference BMI thresholds to screen for underweight and overweight/obesity, recognizing that neither the extent to which BMI reflects body composition nor the clinical relevance of BMI are well characterized in FRDA.

While data are limited in FRDA, higher BMI increases the risk of diabetes and other cardio-metabolic disorders in the general population (71, 72). As diabetes and cardiomyopathy are known co-morbidities in FRDA, it is important to counsel patients on healthful nutrition and how to undertake exercise safely. Beyond the associated risks for health problems, elevated BMI may also make mobility and transfers more difficult. With respect to nutritional interventions, individuals who are overweight and/or individuals with specific FRDA-related co-morbidities (e.g., diabetes, cardiomyopathy) for which nutrition is an established part of management, should receive appropriate counseling. As with any child identified to be underweight, children with FRDA who are underweight should be evaluated by a multidisciplinary team with clinical expertise in nutritional management. Currently, there is no specific evidence in support of management practices of underweight children with FRDA.

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Please note: Recommendations 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. Best Practice Statements are commonly accepted practices, as such formal rating of the quality of evidence by the GRADE process is not indicated. In addition if recommendations from the 2014 guidelines were deemed still relevant, although unable to undergo the scrutiny from a GRADE framework, they were also included as best practice statements.
Standard BMI thresholds

QUESTION: Should standard BMI thresholds versus Friedreich ataxia-specific evaluation be used for defining undernutrition and over-nutrition in adults (18 years +) and children (under 18 years) with Friedreich ataxia?
[sg_popup id=”587″ event=”click”][/sg_popup]STRENGTH OF RECOMMENDATION:
[sg_popup id=”658″ event=”click”][/sg_popup]LEVEL OF EVIDENCE: ⨁◯◯◯

RECOMMENDATION: We suggest using standard BMI thresholds to define underweight and overweight in children and adults with Friedreich ataxia.

JUSTIFICATION: There is no current evidence to suggest that Friedreich ataxia-specific BMI thresholds are needed.

SUBGROUP CONSIDERATION: In children, studies have shown that there is an increased prevalence of being underweight (3) and therefore height and weight should be measured at every clinical or research visit. Standard BMI measurements are used in studies of children with other mitochondrial disorders and low BMI is prevalent (70).
While there are limited data on adults with Friedreich ataxia, studies in adults with mitochondrial disease report a high prevalence of being overweight or obese (28% overweight, 20% obese) (69).

Evidence to Recommendation Table PDF
Please note: Recommendations 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. Best Practice Statements are commonly accepted practices, as such formal rating of the quality of evidence by the GRADE process is not indicated. In addition if recommendations from the 2014 guidelines were deemed still relevant, although unable to undergo the scrutiny from a GRADE framework, they were also included as best practice statements.
All individuals with Friedreich ataxia should have height, weight, and BMI measured at least annually. In the minority of individuals who cannot safely stand with assistance, an alternate measurement could be used (e.g., ulnar length, supine length, seated height, or arm span).

The United States Preventive Services Task Force (USPSTF) and other organizations recommend routine screening for nutritional status with BMI (in children, adolescents, and adults).

Lay summary of clinical recommendation for assessing nutritional status in Friedreich ataxia

Why this recommendation?

Body mass index (BMI) is a screening tool used to evaluate an individual’s nutritional status using height and weight measurements. BMI is often used to indicate whether a person is underweight, normal weight or overweight although it does not always reflect body composition (that is, how much muscle, fat, and bone are present). Despite these limitations, both children and adults should have their height and weight measured annually.

What does this mean for you as a person living with Friedreich ataxia or caring for someone living with Friedreich ataxia?

Your healthcare professional may measure your height and weight at all visits. It might be important to speak to your healthcare professional about your BMI and what this means for you in terms of your nutritional status.

If you have an elevated BMI, your healthcare provider may discuss with you how this could increase your risk for diabetes and heart disease and how this might make mobility and transfers more difficult.

For all individuals with Friedreich ataxia, particularly those with BMI outside the typical range, your healthcare provider may discuss ensuring a balanced and nutritious diet.

Based on your individual comorbidities, such as diabetes or heart failure, your healthcare provider may provide specific nutritional recommendations.

Who is this recommendation specifically for? 

This recommendation is for all individuals with Friedreich ataxia.

Miriam Cnop, MD, PhD
Professor, Universite Libre de Bruxelles, Brussels, Belgium

Andreas Eigentler, MD, PhD
Resident of Neurology, Department of Neurology, Medical University Innsbruck, Innsbruck, Austria

Shana E. McCormack, MD, MTR
Assistant Professor of Pediatrics, Attending Physician, Perelman School of Medicine at the University of Pennsylvania, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA

Jaclyn Tamaroff, MD
Instructor in Pediatrics, Division of Pediatric Endocrinology and Diabetes, Vanderbilt University Medical Center, Nasvhille, Tennessee, USA

David R. Weber, MD, MSCE
Assistant Professor of Pediatrics – Endocrinology, The Children’s Hospital of Philadelphia and The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA

1. Ashby DW, Tweedy PS. Friedreich’s ataxia combined with diabetes mellitus in sisters. Br Med J. 1953;1(4825):1418-21.

2. Parkinson MH, Boesch S, Nachbauer W, Mariotti C, Giunti P. Clinical features of Friedreich’s ataxia: classical and atypical phenotypes. J Neurochem. 2013;126 Suppl 1:103-17.

3. Greeley NR, Regner S, Willi S, Lynch DR. Cross-sectional analysis of glucose metabolism in Friedreich ataxia. J Neurol Sci. 2014;342(1-2):29-35.

4. Hewer RL, Robinson N. Diabetes mellitus in Friedreich’s ataxia. J Neurol Neurosurg Psychiatry. 1968;31(3):226-31.

5. McCormick A, Farmer J, Perlman S, Delatycki M, Wilmot G, Matthews K, et al. Impact of diabetes in the Friedreich Ataxia Clinical Outcome Measures Study. Ann Clin Transl Neurol. 2017;4(9):622-31.

6. Patel M, Isaacs CJ, Seyer L, Brigatti K, Gelbard S, Strawser C, et al. Progression of Friedreich ataxia: quantitative characterization over 5 years. Ann Clin Transl Neurol. 2016;3(9):684-94.

7. Cnop M, Igoillo-Esteve M, Rai M, Begu A, Serroukh Y, Depondt C, et al. Central role and mechanisms of beta-cell dysfunction and death in Friedreich ataxia-associated diabetes. Ann Neurol. 2012;72(6):971-82.

8. Garg M, Kulkarni SD, Shah KN, Hegde AU. Diabetes mellitus as the presenting feature of Friedreich’s ataxia. J Neurosci Rural Pract. 2017;8(Suppl 1):S117-S9.

9. American Diabetes Association. 2. Classification and diagnosis of diabetes: Standards of Medical Care in Diabetes-2021. Diabetes Care. 2021;44:S15-S33.

10. Filla A, De Michele G, Cavalcanti F, Pianese L, Monticelli A, Campanella G, et al. The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am J Hum Genet. 1996;59(3):554-60.

11. Delatycki MB, Paris DB, Gardner RJ, Nicholson GA, Nassif N, Storey E, et al. Clinical and genetic study of Friedreich ataxia in an Australian population. Am J Med Genet. 1999;87(2):168-74.

12. Dürr A, Cossee M, Agid Y, Campuzano V, Mignard C, Penet C, et al. Clinical and genetic abnormalities in patients with Friedreich’s ataxia. N Engl J Med. 1996;335(16):1169-75.

13. Bertoni AG, Tsai A, Kasper EK, Brancati FL. Diabetes and idiopathic cardiomyopathy: a nationwide case-control study. Diabetes Care. 2003;26(10):2791-5.

14. Pappa A, Hausler MG, Veigel A, Tzamouranis K, Pfeifer MW, Schmidt A, et al. Diabetes mellitus in Friedreich Ataxia: A case series of 19 patients from the German-Austrian diabetes mellitus registry. Diabetes Res Clin Pract. 2018;141:229-36.

15. Hewer RL. Study of fatal cases of Friedreich’s ataxia. Br Med J. 1968;3(619):649-52.

16. Schoenle EJ, Boltshauser EJ, Baekkeskov S, Landin Olsson M, Torresani T, von Felten A. Preclinical and manifest diabetes mellitus in young patients with Friedreich’s ataxia: no evidence of immune process behind the islet cell destruction. Diabetologia. 1989;32(6):378-81.

17. Tolis G, Mehta A, Harvey C, Andermann E, Andermann F, Barbeau A. Friedreich’s ataxia and oral glucose tolerance: II. The effect of ingested glucose on serum growth hormone in homozygotes, obligate heterozygotes and potential carriers of the Friedreich’s ataxia gene. Can J Neurol Sci. 1980;7(4):401-3.

18. Finocchiaro G, Baio G, Micossi P, Pozza G, di Donato S. Glucose metabolism alterations in Friedreich’s ataxia. Neurology. 1988;38(8):1292-6.

19. Meyer C, Carlqvist H, Vorgerd M, Schols L, Ostenson CG, Ristow M. Regular insulin secretory oscillations despite impaired ATP synthesis in Friedreich Ataxia patients. Horm Metab Res. 2006;38(10):683-7.

20. Fantus IG, Janjua N, Senni H, Andermann E. Glucose intolerance in first-degree relatives of patients with Friedreich’s ataxia is associated with insulin resistance: evidence for a closely linked inherited trait. Metabolism. 1991;40(8):788-93.

21. Fantus IG, Seni MH, Andermann E. Evidence for abnormal regulation of insulin receptors in Friedreich’s ataxia. J Clin Endocrinol Metab. 1993;76(1):60-3.

22. Coppola G, Marmolino D, Lu D, Wang Q, Cnop M, Rai M, et al. Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARgamma pathway as a therapeutic target in Friedreich’s ataxia. Hum Mol Genet. 2009;18(13):2452-61.

23. Campuzano V, Montermini L, Molto MD, Pianese L, Cossee M, Cavalcanti F, et al. Friedreich’s ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science. 1996;271(5254):1423-7.

24. Kahn SE. The relative contributions of insulin resistance and beta-cell dysfunction to the pathophysiology of Type 2 diabetes. Diabetologia. 2003;46(1):3-19.

25. Bergman RN, Prager R, Volund A, Olefsky JM. Equivalence of the insulin sensitivity index in man derived by the minimal model method and the euglycemic glucose clamp. J Clin Invest. 1987;79(3):790-800.

26. Kahn SE, Prigeon RL, McCulloch DK, Boyko EJ, Bergman RN, Schwartz MW, et al. Quantification of the relationship between insulin sensitivity and beta-cell function in human subjects. Evidence for a hyperbolic function. Diabetes. 1993;42(11):1663-72.

27. Jensen CC, Cnop M, Hull RL, Fujimoto WY, Kahn SE, American Diabetes Association GSG. Beta-cell function is a major contributor to oral glucose tolerance in high-risk relatives of four ethnic groups in the U.S. Diabetes. 2002;51(7):2170-8.

28. Cnop M, Vidal J, Hull RL, Utzschneider KM, Carr DB, Schraw T, et al. Progressive loss of beta-cell function leads to worsening glucose tolerance in first-degree relatives of subjects with type 2 diabetes. Diabetes Care. 2007;30(3):677-82.

29. Azzi AS, Cosentino C, Kibanda J, Fery F, Cnop M. OGTT is recommended for glucose homeostasis assessments in Friedreich ataxia. Annals of Clinical and Translational Neurology. 2019;6(1):161-6.

30. Moran A, Brunzell C, Cohen RC, Katz M, Marshall BC, Onady G, et al. Clinical care guidelines for cystic fibrosis-related diabetes: a position statement of the American Diabetes Association and a clinical practice guideline of the Cystic Fibrosis Foundation, endorsed by the Pediatric Endocrine Society. Diabetes Care. 2010;33(12):2697-708.

31. Garber AJ, Handelsman Y, Grunberger G, Einhorn D, Abrahamson MJ, Barzilay JI, et al. Consensus Statement by the American Association of Clinical Endocrinologists and American College of Endocrinology on the Comprehensive Type 2 Diabetes Management Algorithm – 2020 Executive Summary. Endocr Pract. 2020;26(1):107-39.

32. American Diabetes Association. 9. Pharmacologic approaches to glycemic treatment: Standards of Medical Care in Diabetes-2022. Diabetes Care. 2022;45:S125-S43.

33. American Diabetes Association. 7. Diabetes technology: Standards of Medical Care in Diabetes-2021. Diabetes Care. 2021;44:S85-S99.

34. Tamaroff J, DeDio A, Wade K, Wells M, Park C, Leavens K, et al. Friedreich’s ataxia related diabetes: Epidemiology and management practices. Diabetes Res Clin Pract. 2022;186:109828.

35. DeFronzo R, Fleming GA, Chen K, Bicsak TA. Metformin-associated lactic acidosis: Current perspectives on causes and risk. Metabolism. 2016;65(2):20-9.

36. Cameron AR, Logie L, Patel K, Erhardt S, Bacon S, Middleton P, et al. Metformin selectively targets redox control of complex I energy transduction. Redox Biol. 2018;14:187-97.

37. Murphy R, Turnbull DM, Walker M, Hattersley AT. Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation. Diabet Med. 2008;25(4):383-99.

38. Brunmair B, Staniek K, Gras F, Scharf N, Althaym A, Clara R, et al. Thiazolidinediones, like metformin, inhibit respiratory complex I: a common mechanism contributing to their antidiabetic actions? Diabetes. 2004;53(4):1052-9.

39. Erdmann E, Charbonnel B, Wilcox RG, Skene AM, Massi-Benedetti M, Yates J, et al. Pioglitazone use and heart failure in patients with type 2 diabetes and preexisting cardiovascular disease: data from the PROactive study (PROactive 08). Diabetes Care. 2007;30(11):2773-8.

40. Igoillo-Esteve M, Oliveira AF, Cosentino C, Fantuzzi F, Demarez C, Toivonen S, et al. Exenatide induces frataxin expression and improves mitochondrial function in Friedreich ataxia. JCI Insight. 2020;5(2):e134221.

41. Marso SP, Bain SC, Consoli A, Eliaschewitz FG, Jodar E, Leiter LA, et al. Semaglutide and cardiovascular outcomes in patients with Type 2 diabetes. N Engl J Med. 2016;375(19):1834-44.

42. Schernthaner G, Cahn A, Raz I. Is the Use of DPP-4 Inhibitors Associated With an Increased Risk for Heart Failure? Lessons From EXAMINE, SAVOR-TIMI 53, and TECOS. Diabetes Care. 2016;39 Suppl 2:S210-8.

43. McMurray JJV, Solomon SD, Inzucchi SE, Kober L, Kosiborod MN, Martinez FA, et al. Dapagliflozin in patients with heart failure and reduced ejection fraction. N Engl J Med. 2019;381(21):1995-2008.

44. Rosenstock J, Ferrannini E. Euglycemic diabetic ketoacidosis: A predictable, detectable, and preventable safety concern with SGLT2 inhibitors. Diabetes Care. 2015;38(9):1638-42.

45. Tamaroff J, Kilberg M, Pinney SE, McCormack S. Overview of atypical dabetes. Endocrinol Metab Clin North Am. 2020;49(4):695-723.

46. Yeung RO, Al Jundi M, Gubbi S, Bompu ME, Sirrs S, Tarnopolsky M, et al. Management of mitochondrial diabetes in the era of novel therapies. J Diabetes Complications. 2021;35(1):107584.

47. Cosentino F, Grant PJ, Aboyans V, Bailey CJ, Ceriello A, Delgado V, et al. 2019 ESC Guidelines on diabetes, pre-diabetes, and cardiovascular diseases developed in collaboration with the EASD. Eur Heart J. 2020;41(2):255-323.

48. Mayer-Davis EJ, Kahkoska AR, Jefferies C, Dabelea D, Balde N, Gong CX, et al. ISPAD Clinical Practice Consensus Guidelines 2018: Definition, epidemiology, and classification of diabetes in children and adolescents. Pediatr Diabetes. 2018;19 Suppl 27:7-19.

49. Ailts J, Hurd B, Cucak A, Miskimin K, Vitiello P. Metformin-dependent exacerbation of pathologies in Friedreich’s ataxia (Abstract). Free Radic Biol Med. 2019;145(Suppl 1):S81.

50. NIH Consensus Development Panel on Osteoporosis Prevention Diagnosis Therapy. Osteoporosis prevention, diagnosis, and therapy. JAMA. 2001;285(6):785-95.

51. Bishop N, Arundel P, Clark E, Dimitri P, Farr J, Jones G, et al. Fracture prediction and the definition of osteoporosis in children and adolescents: the ISCD 2013 Pediatric Official Positions. J Clin Densitom. 2014;17(2):275-80.

52. Bianchi ML. Osteoporosis in children and adolescents. Bone. 2007;41(4):486-95.

53. Smith EM, Comiskey CM, Carroll AM. A study of bone mineral density in adults with disability. Arch Phys Med Rehabil. 2009;90(7):1127-35.

54. Lynch D. FA Clinical Outcome Measures (FA-COMS) Registry (unpublished data):; 2017 [Available from:

55. Eigentler A, Nachbauer W, Donnemiller E, Poewe W, Gasser RW, Boesch S. Low bone mineral density in Friedreich ataxia. Cerebellum. 2014;13(5):549-57.

56. Holick MF. Optimal vitamin D status for the prevention and treatment of osteoporosis. Drugs Aging. 2007;24(12):1017-29.

57. Tangpricha V, Pearce EN, Chen TC, Holick MF. Vitamin D insufficiency among free-living healthy young adults. Am J Med. 2002;112(8):659-62.

58. Galindo-Zavala R, Bou-Torrent R, Magallares-Lopez B, Mir-Perello C, Palmou-Fontana N, Sevilla-Perez B, et al. Expert panel consensus recommendations for diagnosis and treatment of secondary osteoporosis in children. Pediatr Rheumatol Online J. 2020;18(1):20.

59. Simm PJ, Biggin A, Zacharin MR, Rodda CP, Tham E, Siafarikas A, et al. Consensus guidelines on the use of bisphosphonate therapy in children and adolescents. J Paediatr Child Health. 2018;54(3):223-33.

60. Weber DR, Boyce A, Gordon C, Hogler W, Kecskemethy HH, Misra M, et al. The utility of DXA assessment at the forearm, proximal femur, and lateral distal femur, and vertebral fracture assessment in the pediatric population: 2019 ISCD official position. J Clin Densitom. 2019;22(4):567-89.

61. Lambert AS, Rothenbuhler A, Charles P, Brailly-Tabard S, Trabado S, Celestin E, et al. Lower incidence of fracture after IV bisphosphonates in girls with Rett syndrome and severe bone fragility. PLoS One. 2017;12(10):e0186941.

62. Nasomyont N, Hornung LN, Wasserman H. Intravenous bisphosphonate therapy in children with spinal muscular atrophy. Osteoporos Int. 2020;31(5):995-1000.

63. Ozel S, Switzer L, Macintosh A, Fehlings D. Informing evidence-based clinical practice guidelines for children with cerebral palsy at risk of osteoporosis: an update. Dev Med Child Neurol. 2016;58(9):918-23.

64. Weber DR. Bone health in childhood chronic disease. Endocrinol Metab Clin North Am. 2020;49(4):637-50.

65. International Society for Clinical Densitometry (ISCD). 2019 ISCD official positions: Adult: ISCD; 2019 [Available from:

66. International Society for Clinical Densitometry (ISCD). 2019 ISCD Official Positions: Pediatric: ISCD; 2019 [Available from:

67. World Health Organization. Physical status: the use and interpretation of anthropometry. Report of a WHO Expert Committee. World Health Organ Tech Rep Ser 1995;854:1-452.

68. Patel M, McCormick A, Tamaroff J, Dunn J, Mitchell JA, Lin KY, et al. Body mass index and height in the Friedreich Ataxia Clinical Outcome Measures Study. Neurol Genet. 2021;7(6):e638.

69. Apabhai S, Gorman GS, Sutton L, Elson JL, Plotz T, Turnbull DM, et al. Habitual physical activity in mitochondrial disease. PLoS One. 2011;6(7):e22294.

70. Wolny S, McFarland R, Chinnery P, Cheetham T. Abnormal growth in mitochondrial disease. Acta Paediatr. 2009;98(3):553-4.

71. Narayan KM, Boyle JP, Thompson TJ, Gregg EW, Williamson DF. Effect of BMI on lifetime risk for diabetes in the U.S. Diabetes Care. 2007;30(6):1562-6.

72. Powell-Wiley TM, Poirier P, Burke LE, Despres JP, Gordon-Larsen P, Lavie CJ, et al. Obesity and cardiovascular disease: A scientific statement from the American Heart Association. Circulation. 2021;143(21):e984-e1010.

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.

This chapter of the Clinical Management Guidelines for Friedreich Ataxia and the recommendations and best practice statements contained herein were endorsed by the authors and the Friedreich Ataxia Guidelines Panel in 2022.

It is our expectation that going forward individual topics can be updated in real-time in response to new evidence versus a re-evaluation and update of all topics simultaneously.