Surgical Management

Friedreich ataxia (FA) is an inherited neurodegenerative condition affecting the brain and spinal cord. The disease is characterized by a lack of muscle coordination, progressive loss of proprioception and sensory function, and loss of mobility and ambulation. Frequent disease-related comorbidities include hypertrophic cardiomyopathy, scoliosis, and diabetes mellitus.¹

In some cases, patients with disease-related comorbidities may require surgical intervention if conservative therapeutic or pharmacological approaches are unsuccessful.²

Musculoskeletal Surgical Interventions

Muscular imbalance around the spine, a consequence of progressive neurodegeneration, may lead to the development of kyphoscoliosis.³ Clinical practice guidelines for the treatment of FA state that surgical intervention may be considered to correct a curvature of more than 40 degrees in patients with scoliosis due to FA.² Such severe curvature may impede lung function.⁴

In the past, surgical intervention in patients with FA often entailed posterior instrumented fusion with Harrington or Luque rods; however, these methods of treating scoliosis have been replaced by newer, less invasive approaches, some of which do not involve fusion of the spine.^5,6 Other surgical approaches used to treat scoliosis in patients with FA include all-pedicle screw fixation and hybrid constructs in which hooks, screws, and wires are used.⁵

In one study, a total of 17 children with FA underwent surgery for severe scoliosis; in 7 of them, scoliosis had progressed despite initial treatment with bracing. Postoperative complications included 1 death due to cardiorespiratory failure, 1 surgical revision for non-union, and 4 cases of proximal junction kyphosis. No neurological complications or wound infections occurred.⁵

Surgery to correct progressive foot deformities, such as equinovarus, high plantar arches, and hammertoes, may be required if splinting, rehabilitation, and botulinum toxin injections are unsuccessful in helping patients retain their functional mobility. The function and mobility of patients with FA have been shown to improve following surgical interventions to correct these foot deformities.^2,3,7

Read more about FA guidelines

Cardiac Surgical Interventions

The most common cause of mortality in patients with FA is cardiac dysfunction. Two-thirds of patients die of arrhythmias and hypertrophic cardiomyopathy leading to congestive heart failure.³

Placement of an automatic internal cardioverter defibrillator (AICD) should be considered if a patient with FA has²:

Left ventricular ejection fraction of 35% or lower;
Functional class 2 or 3 symptoms per the New York Heart Association (NYHA) classification system despite optimal pharmacological treatment; or
Anticipated survival of more than 1 year with good functional status.

To prevent sudden cardiac death, prophylactic placement of an AICD is generally indicated for a patient with FA and sustained ventricular tachyarrhythmia with hemodynamic significance.⁸

Cardiac transplant may be considered for patients with relatively mild neurological progression of FA and severe heart failure that remains unresponsive to optimal medical management.^2,3,9 Cardiac transplant should especially be considered in pediatric patients whose cardiac symptoms develop before and progress more severely than their neurological symptoms.⁹

Patients with FA should be evaluated by a cardiologist before undergoing any major surgical procedure. Cardiac monitoring should be part of any major surgery, which should be performed in a center with a cardiac intensive care unit.²

Read more about FA complications

Surgical Interventions for Dysphagia

If severe, potentially life-threatening dysphagia develops and a patient has high risk of choking or food aspiration, the patient may require enteral nutrition via a nasogastric or gastrostomy feeding tube. Other characteristics of FA that may necessitate surgical placement of a feeding tube include impaired postural or hand-to-mouth coordination that makes self-feeding difficult.¹⁰

Read more about FA clinical features

Neurological Surgical Interventions

Functional neurosurgery may be required for a patient with FA if advanced spasticity, dystonia, or tremor becomes refractory to physical therapy and pharmacological management.¹¹ Functional neurosurgical interventions may include placement of an intrathecal baclofen pump¹² or a deep brain stimulator (DBS) to treat spasticity, pain, muscle spasms, dystonia, or tremor (including dystonic tremor).^13,14 However, a DBS should be placed with caution in a patient with an ataxia disorder because it may worsen gait abnormalities and other disease-related symptoms.¹⁴

Potential neuromodulation of the cerebellum with a DBS may eventually be used to treat ataxia in patients with FA; however, success with these treatment methods has at present been demonstrated only in murine models with early-stage ataxia.¹⁵

Read more about FA treatment

References

Friedreich ataxia. MedlinePlus. Accessed January 12, 2023.
Corben LA, Lynch D, Pandolfo M, Schulz JB, Delatycki MB. Consensus clinical management guidelines for Friedreich ataxia. Orphanet J Rare Dis. 2014;9:184. doi:10.1186/s13023-014-0184-7
Williams CT, De Jesus O. Friedreich ataxia. StatPearls [Internet]. Updated September 5, 2022. Accessed January 13, 2023.
Surgical treatment for scoliosis. OrthoInfo. Reviewed August 2020. Accessed January 13, 2023.
Tsirikos AI, Smith G. Scoliosis in patients with Friedreich’s ataxia. J Bone Joint Surg Br 2012;94-B(5):684-689. doi:10.1302/0301-620X.94B5.28391
New treatment options correct spinal curves through a minimally invasive approach. Ascension Texas Spine & Scoliosis. Accessed January 13, 2023.
Delatycki MB, Holian A, Corben L, et al. Surgery for equinovarus deformity in Friedreich’s ataxia improves mobility and independence. Clin Orthop Relat Res. 2005;(430):138-141. doi:10.1097/01.blo.0000150339.74041.0e
Coskun KO, Popov AF, Schmitto JD, et al. Feasibility of implantable cardioverter defibrillator treatment in five patients with familial Friedreich’s ataxia—a case series. Artif Organs. 2010;34(11):1061-1065. doi:10.1111/j.1525-1594.2010.01140.x
Yoon G, Soman T, Wilson J, et al. Cardiac transplantation in Friedreich ataxia. J Child Neurol. 2012;27(9):1193-1196. doi:10.1177/0883073812448229
Vogel AP, Keage MJ, Johansson K, Schalling E. Treatment for dysphagia (swallowing difficulties) in hereditary ataxia. Cochrane Database Syst Rev. 2015;2015(11):CD010169. doi:10.1002/14651858.CD010169.pub2
de Silva R, Greenfield J, Cook A, et al. Guidelines on the diagnosis and management of the progressive ataxias. Orphanet J Rare Dis. 2019;14:51. doi:10.1186/s13023-019-1013-9
Kalyvas AV, Drosos E, Korfias S, Gatzonis S, Themistocleous M, Sakas DE. Intrathecal baclofen therapy for painful muscle spasms in a patient with Friedreich’s ataxia. Stereotact Funct Neurosurg. 2018;96:127-130. doi:10.1159/000489220
Crowell JL, Shah BB. Surgery for dystonia and tremor. Curr Neurol Neurosci Rep. 2016;16(3):22. doi:10.1007/s11910-016-0627-8
Oyama G, Thompson A, Foote KD, et al. Deep brain stimulation for tremor associated with underlying ataxia syndromes: a case series and discussion of issues. Tremor Other Hyperkinet Mov (N Y). 2014;4:228. doi:10.7916/D8542KQ5
Miterko LN, Lin T, Zhou J, et al. Neuromodulation of the cerebellum rescues movement in a mouse model of ataxia. Nat Commun. 2021;12(1):1295. doi:10.1038/s41467-021-21417-8

Reviewed by Hasan Avcu, MD, on 1/28/2023.

Maria Arini Lopez, PT, DPT, CSCS, CMTPT, CIMT

Maria Arini Lopez, PT, DPT, CSCS, CMTPT, CIMT is a freelance medical writer and Doctor of Physical Therapy from Maryland. She has expertise in the therapeutic areas of orthopedics, neurology, chronic pain, gastrointestinal dysfunctions, and rare diseases especially Ehlers Danlos Syndrome.

Friedreich Ataxia (FA)

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