Physiotherapy and Rehabilitation in Dysferlinopathy

Abstract

Dysferlinopathy is autosomal recessive neuromuscular diseases resulting from genetic dysferlin deficiency, a protein involved muscle repair. The aim of this study is to present information about evaluation, treatment program of patients with dysferlinopathy. 27-year-old female patient was treated 3 days a week for 7 months. Before and after treatment; it has been assessed that muscle strength with 0-5 Medical Research Council Scale, physical performance with Timed Physical Performance Test, fall worries with Falls Efficacy Scale International; number of falls, body mass index recorded. Kinesiotape, isotonicisometric-resistant exercises, PNF were applied to increase muscle strength; ear acupuncture was used for weight control. Timed performance durations, worries of falling, the number of falls and body mass index decreased significantly. Compared to pre-treatment muscle strength increased in all muscular groups included. It has been observed that isotonic, isometric, PNF exercises, kinesiotape application increase muscle strength, physical performance; decrease the number of falls, falls worries.