Patients with autosomal dominant spinocerebellar ataxia have more risk of falls, important balance impairment, and decreased ability to function

Abstract

Objectives: To assess balance and ability to function in patients with spinocerebellar ataxia. Methods: A total of 44 patients with different spinocerebellar ataxia types 1, 2, 3, and 6 were evaluated using the Tinetti balance and gait assessment and the functional independence measure. The scale for the assessment and rating of ataxia and the international cooperative ataxia rating scale were used to evaluate disease severity. Results: Most patients showed significant risk of falls. The balance scores were significantly different in spinocerebellar ataxia types. A significant positive correlation between balance and disease severity was found. Conclusion: Patients with spinocerebellar ataxia have important balance impairment and risk of falls that influence the ability to function such as self-care, transfers, and locomotion. Furthermore, the more severe ataxia is, the more compromised are postural balance, risk of falls, and ability to function.Key words: spinocerebellar ataxias, postural balance, risk of falls, ability to function. RESUMO:Objetivos: Avaliar o equilíbrio e a capacidade funcional em pacientes com ataxia espinocerebelar. Métodos: Quarenta e quatro pacientes com diferentes tipos de ataxia espinocerebelar foram avaliados usando os testes de equilíbrio e de marcha de Tinetti, e da Medida de Independência Funcional. A Escala para Avaliação e Graduação de Ataxia e a Escala Cooperativa Internacional para Graduação de Ataxia foram utilizadas para avaliar a gravidade da doença. Resultados: A maioria dos pacientes apresentou risco significativo de quedas. As pontuações de equilíbrio foram diferentes entre os tipos de ataxia espinocerebelar. Foi encontrada correlação positiva entre o déficit de equilíbrio e a gravidade da doença. Conclusão: Os pacientes com ataxia espinocerebelar possuem comprometimento importante do equilíbrio e risco de quedas, que influenciam a capacidade funcional, como por exemplo: auto-cuidado, transferências e locomoção. Além disso, quanto mais grave a ataxia, maior o comprometimento do equilíbrio postural, do risco de quedas, e da capacidade funcional.Palavras-Chave: ataxias espinocerebelares, equilíbrio, risco de quedas, capacidade funcional.

Spinal sagittal balance status affects postoperative actual falls and quality of life after decompression and fusion in-situ surgery in patients with lumbar spinal stenosis

“…Patients with other conditions that hampered their functional performance test results, such as Parkinson's disease, previous history of spine surgery, head trauma, current/old cerebrovascular events (cerebral hemorrhage and cerebral infarct), and other neurodegenerative conditions that could potentially affect functional mobility tests including Alzheimer's disease or a specific ataxic condition, were also excluded. [5][6][7][8] Furthermore, based on the whole length of lower extremities X-rays, patients with severe osteoarthropathic conditions that caused knee and hip joint contracture that affected whole spinal sagittal balance were also excluded from the patient pool. [9] Among the patients that met the inclusion criteria, six were lost to follow-up after 3 months or 1 year postoperatively.…”

Impact of disease duration on functional status of patients with spinocerebellar ataxia type 2

“…In addition, repeated falls instill intense fear of falling, so that patients restrict their activities and become less independent, limiting their ability to perform physical activities, which in turn affects their posture and gait control 19 . In a study that assessed balance and functionality in 44 patients with SCA, Aizawa et al 20 concluded that individuals with SCA have significant balance impairment and an increased risk of falls and that this affects their ability to perform certain activities, such as self-care, transfers, locomotion and instrumental activities of daily living. They also concluded that the more severe the ataxia, the greater the balance and functional impairment, corroborating the results of the present study.…”

Current concepts in the treatment of hereditary ataxias

“…The management of mitochondrial diseases is usually supportive which includes: medications for diabetes mellitus, cardiac pacing, ptosis correction, intraocular lens replacement for cataracts, cochlear implantation for sensorineural hearing loss and symptomatic treatment for spasticity, chorea and epilepsy 43 . A great number of vitamins and co-factors have been used in individuals with mitochondrial disorders, although a recent Cochrane systematic review did not identify clear evidence supporting the use of any intervention in mitochondrial disorders 43 .…”

“…A great number of vitamins and co-factors have been used in individuals with mitochondrial disorders, although a recent Cochrane systematic review did not identify clear evidence supporting the use of any intervention in mitochondrial disorders 43 . Some patients may have subjective benefit on treatment with CoQ10.…”