Dysphagia in spinocerebellar ataxias type 1, 2, 3 and 6

Yang, Chen; Lai, Ruo Yah; Amokrane, Nadia; Lin, Chi‐Ying; Figueroa, Karla P.; Pulst, Stefan M.; Perlman, Susan; Wilmot, George; Gómez, Christopher M.; Schmahmann, Jeremy D.; Paulson, Henry L.; Shakkottai, Vikram G.; Rosenthal, Liana S.; Ying, Sarah H.; Zesiewicz, Theresa; Bushara, Khalaf; Geschwind, Michael D.; Xia, Guangbin; Subramony, S. H.; Ashizawa, Tetsuo; Troche, Michelle S.; Kuo, Sheng Han

doi:10.1016/j.jns.2020.116878

Cited by 5 publications

(3 citation statements)

References 26 publications

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“…SCA1 patients have early dysarthria and dysphagia. 196 SCA2 patients usually have slow saccades, hyporeflexia, truncal titubation, and postural and rest tremor. 171 172 SCA3 patients often have dystonia, depression, restless leg syndrome, and levodopa-responsive parkinsonism.…”

Section: Genetic Causes For Ataxiamentioning

confidence: 99%

Ataxias: Hereditary, Acquired, and Reversible Etiologies

Lin

Kuo

2023

Semin Neurol

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A variety of etiologies can cause cerebellar dysfunction, leading to ataxia symptoms. Therefore, the accurate diagnosis of the cause for cerebellar ataxia can be challenging. A step-wise investigation will reveal underlying causes, including nutritional, toxin, immune-mediated, genetic, and degenerative disorders. Recent advances in genetics have identified new genes for both autosomal dominant and autosomal recessive ataxias, and new therapies are on the horizon for targeting specific biological pathways. New diagnostic criteria for degenerative ataxias have been proposed, specifically for multiple system atrophy, which will have a broad impact on the future clinical research in ataxia. In this article, we aim to provide a review focus on symptoms, laboratory testing, neuroimaging, and genetic testing for the diagnosis of cerebellar ataxia causes, with a special emphasis on recent advances. Strategies for the management of cerebellar ataxia is also discussed.

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Section: Genetic Causes For Ataxiamentioning

confidence: 99%

Ataxias: Hereditary, Acquired, and Reversible Etiologies

Lin

Kuo

2023

Semin Neurol

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“…Dysphagia is a common symptom and is generally associated with increased mortality in neurodegenerative disorders. Although dysphagia is a significant complaint in spinocerebellar ataxia (SCA) patients, little research has been done on the frequency of dysphagia and how it relates to other clinical traits [ 5 ]. A cerebellar infarct, also known as a cerebellar stroke, occurs in the posterior cranial fossa, affecting the cerebellum.…”

Section: Introductionmentioning

confidence: 99%

Comprehensive Physiotherapy Rehabilitation in a Patient With Cerebellar Ataxia and Dysphagia: A Case Report Investigating Symptomatology, Management, and Outcomes

Sasun,

Qureshi,

Chavan

et al. 2024

Cureus

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A cerebellar infarct occurs when blood flow to the cerebellum, located in the posterior cranial fossa, is disrupted. This diminished blood supply leads to decreased oxygen delivery, resulting in motor and balance control impairments. One prevalent sign of neurodegenerative diseases is dysphagia, which is typically linked to a higher death rate. No systematic and uniform assessment of dysphagia is used in the clinical care environment of individuals with ataxia. Its effect on the quality of life associated with health in patients is little understood. Therefore, this case report works to address dysphagia in cerebellar ataxia. This case report examines the physiotherapy management of a 41-year-old male who had cerebellar ataxia secondary to an infarct in the bilateral cerebellar hemisphere and vermis. The rehabilitation period lasted for six weeks. On examination, the patient had difficulty swallowing and showed symptoms of cerebellar dysfunctions, such as nystagmus, dyssynergia, dysmetria, and dysdiadochokinesia. Neuro-physiotherapy interventions, like conventional physiotherapy, trunk, and pelvis proprioceptive neuromuscular facilitation (PNF), Kinesio taping for dysphagia, interventions to treat gait, balance training interventions, and Frenkel’s exercises were commenced. The outcome measures were evaluated using standardized outcome measures like the Swallowing Quality of Life Scale (SWAL-QOL), Severity of Ataxia Scale (SARA), Trunk Impairment Scale (TIS), Berg Balance Scale (BBS), Barthel Index, and World Health Organization Quality of Life (WHO-QOL). We conclude that a properly structured physiotherapy program subsequently improved the symptoms of patients. Furthermore, it enhanced functional independence, which subsequently improved the patient's quality of life.

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“…They mainly occur in adults aged 30–40 years old but can also occur in children and the elderly population [4] , [5] , [6] . In addition, SCA patients have many non-ataxia symptoms, such as spasticity, dystonia, dysphagia, parkinsonism, oculomotor abnormalities, and sleep disorders [7] , [8] , [9] , [10] . SCA patients' ability to move and communicate becomes significantly limited, which seriously negatively affects their quality of life, making them vulnerable to anxiety and depression.…”

Section: Introductionmentioning

confidence: 99%