Friedreich's Ataxia and Scoliosis

Milbrandt, Todd A.; Kunes, Justin; Karol, Lori A.

doi:10.1097/bpo.0b013e318164fa79

Cited by 51 publications

(16 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This disorder is caused by an expansion repeat of the GAA trinucleotide on the 9q13 chromosome, leading to iron deposition in the mitochondria and ultimately creation of free radicals [ 35 ]. Cardiomyopathy leads to death in many patients before the age of 40 [ 36 ].…”

Section: Resultsmentioning

confidence: 99%

See 1 more Smart Citation

Complications associated with surgical repair of syndromic scoliosis

et al. 2015

View full text Add to dashboard Cite

BackgroundThere are a number of syndromes that have historically been associated with scoliosis e.g.: Marfan, Down, and Neurofibromatosis. These syndromes have been grouped together as one etiology of scoliosis, known as syndromic scoliosis. While multiple studies indicate that these patients are at high risk for perioperative complications, there is a paucity of literature regarding the collective complication rates and surgical needs of this population.MethodsPubMed and Embase databases were searched for literature encompassing the surgical complications associated with the surgical management of patients undergoing correction of scoliosis in the syndromic scoliosis population. Following exclusion criteria, 24 articles were analyzed for data regarding these complications.ResultsThe collective complication rates and findings of these articles were categorized based on specific syndrome. The rates and types of complications for each syndrome and the special needs of patients with each syndrome are discussed. Several complication trends of note were observed, including but not limited to the universally nearly high rate of wound infections (>5% in each group), high rate of pulmonary complications in patients with Rett syndrome (29.2%), high rate (>10%) of dural tears in Marfan and Ehlers-Danlos syndrome patients, high rate (>20%) of implant failure in Down and Prader-Willi syndrome patients, and high rate (>25%) of pseudarthrosis in Down and Ehlers-Danlos patients.ConclusionsThough these syndromes have been classically grouped together under the umbrella term “syndromic,” there may be specific needs for patients with each of these ailments. Given the high rate of complications, further research is necessary to understand the unique needs for each of these patient groups in the preoperative, intraoperative, and postoperative settings.

show abstract

Section: Resultsmentioning

confidence: 99%

“…Moreover, they concluded that there was no significant impact from surgical correction on what age patients became wheelchair bound. Despite cardiomyopathy concerns, the authors felt that surgery could be preformed safely with close anesthesia monitoring [ 36 ].…”

Section: Resultsmentioning

confidence: 99%

Complications associated with surgical repair of syndromic scoliosis

et al. 2015

View full text Add to dashboard Cite

show abstract

“…20–22 In one study, 20% of individuals with Friedreich ataxia required the prescription of a brace and 33% required spinal fusion. 21 Pes cavus is common, occurring in 55% to 75% of individuals with Friedreich ataxia (Table 3), but it rarely causes morbidity. Equinovarus deformity of the feet is more commonly a cause of morbidity.…”

Section: Friedreich Ataxia Due To Homozygous Fxn Intron 1 Gaa Expansionsmentioning

confidence: 99%

Clinical Features of Friedreich Ataxia

2012

View full text Add to dashboard Cite

Friedreich ataxia, the most common hereditary ataxia, affects about 1:29 000 Caucasians. In about 98% of these individuals it is due to homozygosity for a GAA trinucleotide repeat expansion in intron 1 of FXN; in the other 2% it is due to compound heterozygosity for a GAA expansion and point mutation or deletion. The condition affects multiple sites in the central and peripheral nervous system as well as a number of other organ systems, resulting in multiple signs and symptoms. Onset of this autosomal recessive condition is usually in the first 2 decades of life. Major clinical features include progressive ataxia, absent lower limb reflexes, upgoing plantar responses, and peripheral sensory neuropathy. The main non-neurological sites of morbidity are the heart, resulting in cardiomyopathy, and the pancreas, resulting in diabetes mellitus. In this review, we provide an overview of the clinical features of Friedreich ataxia and discuss differential diagnoses.

show abstract

“…Most people diagnosed with the disorder require mobility aids such as a cane, walker or wheelchair by their teens or early 20s, and may require surgery for scoliosis or foot deformities [6]. Regular follow-up with annual echocardiograms and blood tests are necessary to detect and monitor the development of cardiac involvement and diabetes.…”

Section: Introductionmentioning

confidence: 99%

Impact of Friedreich’s Ataxia on health-care resource utilization in the United Kingdom and Germany

Giunti¹,

Greenfield

Stevenson

et al. 2013

Orphanet Journal of Rare Diseases

View full text Add to dashboard Cite

BackgroundFriedreich’s Ataxia (FRDA) is a neurodegenerative disorder that causes progressive damage to the central and peripheral nervous systems having a significant impact upon quality of life. With little information in the literature, cross-sectional observational studies were conducted in the UK and Germany to collect data on resource use and the burden of the disease on individuals and their caregivers.MethodsCross-sectional observational studies were conducted in the UK and Germany to estimate the burden of FRDA on individuals and on the respective healthcare systems. A total of 75 individuals in the UK and 28 in Germany were recruited to the study. Participants in both countries were asked to complete a Patient and Caregiver Information Form (PCIF), regarding access to, and use of, healthcare resources, and the impact FRDA has on their lifestyle. In Germany, doctors were asked to complete a Patient Record Form (PRF). Analyses of annual direct and indirect resource utilization were conducted for both countries while costs were calculated for the UK only. These figures were compared to the costs associated with Parkinson’s disease; one of the most common neurodegenerative conditions and the one most similar in terms of disease progression.ResultsThe results showed that the annual burden of FRDA is significant and falls on the health and social care sectors, on society, on caregivers and on the individuals themselves. In the UK FRDA had a total annual cost per person of between £11,818 and £18,774 depending on whether the cost of long-term unemployment was included.Typically the largest component of direct costs is associated with professional care. Given the high proportion of children and young adults recruited and the long disease duration, (typically 40-50 years for FRDA, compared with 20 years for Parkinson’s disease), these figures may underestimate the true burden of the disease.ConclusionIt is hoped that these estimates of resource utilization, can help in understanding the previously unquantified burden of FRDA. Given the long disease duration, management strategies should seek to minimise the impact of the condition on individuals and their caregivers, while maximising quality of life.

show abstract

Friedreich's Ataxia and Scoliosis

Abstract: Patients with Friedreich's ataxia need to be carefully screened for scoliosis and counseled about the high rate of surgical fusion. Using modern implants, correction can be achieved and maintained.

Cited by 51 publications

References 12 publications

Complications associated with surgical repair of syndromic scoliosis

Complications associated with surgical repair of syndromic scoliosis

Clinical Features of Friedreich Ataxia

Impact of Friedreich’s Ataxia on health-care resource utilization in the United Kingdom and Germany

Contact Info

Product

Resources

About