Abstract
BackgroundCAPOS syndrome (cerebellar ataxia, areflexia, pescavus, optic atrophy, and sensorineural hearing loss) is a rare congenital autosomal dominant disorder. The resulting neurological sequelae of impairments are progressive in nature and may interfere with functional independence, performing activities of daily living (ADL’s), and subsequently, affecting the quality of life (QOL). Since it is an extremely rare disorder, there is a severe dearth in the literature about how specific physiotherapy interventions may affect their functional status. Therefore, our objective was to investigate the effects of proprioceptive neuromuscular facilitation (PNF) and Frenkel’s coordination exercises on functional recovery in a patient with CAPOS syndrome.Case presentationWe herein present a case of a 25-year-old Indian male with complaints of generalized body weakness, difficulty visualizing distant objects, nystagmus, progressive sensorineural deafness, and ataxia. He was rehabilitated with a structured/customized physiotherapy protocol consisting of PNF approach and coordination exercises for 4 weeks, 6 days/week, 60 min daily. An improvement in overall functional performance of patient as per post-intervention scores of manual muscle testing, trunk control measurement scale, functional independence measure (components of self-care, transfers, and locomotion), and decline in severity of ataxia on scale for assessment and rating of ataxia scale was observed.ConclusionPNF and Frenkel’s exercises resulted in an improvement in overall functional performance of the patient. Improvement was observed in post-test scores of Manual Muscle Testing (MMT), Trunk Control Measurement Scale (TCMS), and Functional Independence Measure (FIM) for the components of self-care, transfers, and locomotion. Additionally, results also showed a decline in severity of ataxia on post-test scores of scale for the assessment and rating of ataxia (SARA) scale (i.e., from severe to moderate).
Highlights
CAPOS syndrome is a rare congenital autosomal dominant disorder
Improvement was observed in post-test scores of Manual Muscle Testing (MMT), Trunk Control Measurement Scale (TCMS), and Functional Independence Measure (FIM) for the components of self-care, transfers, and locomotion
Results showed a decline in severity of ataxia on post-test scores of scale for the assessment and rating of ataxia (SARA) scale
Summary
CAPOS syndrome (cerebellar ataxia, areflexia, pescavus, optic atrophy, and sensorineural hearing loss) is a rare congenital autosomal dominant disorder. The resulting neurological sequelae of impairments are progressive in nature and may interfere with functional independence, performing activities of daily living (ADL’s), and subsequently, affecting the quality of life (QOL) Since it is an extremely rare disorder, there is a severe dearth in the literature about how specific physiotherapy interventions may affect their functional status. Case presentation: We present a case of a 25-year-old Indian male with complaints of generalized body weakness, difficulty visualizing distant objects, nystagmus, progressive sensorineural deafness, and ataxia He was rehabilitated with a structured/customized physiotherapy protocol consisting of PNF approach and coordination exercises for 4 weeks, 6 days/week, 60 min daily. Evidence has proven effectiveness of a wide range of physical therapy (PT) interventions comprising of proprioceptive neuromuscular facilitation (PNF), Frenkel’s exercises, dynamic postural stability training, muscle strengthening and flexibility exercises, balance reeducation, and gait training in patients with cerebellar disorders [7, 8]. Several clinical trials and a case study conducted on individuals with ataxia have indicated a significant improvement in functional capabilities, such as self-care, gait, and in ataxic symptoms after rehabilitation programs [9–11]
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