| dc.description.abstract |
Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disordercaused by the absence or deficiency of PANK 2 gene located on the chromosome 20p13-p12.3.This is a motor disorder of extrapyramidal type with dystonia, rigidity, involuntary movements(choreoathetosis or tremor) and other pyramidal signs. We present the case of a patient, 13-year-old boy with PKAN who reported to our institute. The assessment revealed dystonia, dys-phagia, oro-motor weakness, increased tone in facial and cervical region, dysarthria, poor speechintelligibility and mild intellectual deficit. After a detailed assessment, the patient was recom-mended speech therapy, swallowing management and occupational therapy. He attended twosessions of EMG biofeedback therapy for the reduction of tone and 26 sessions of speech ther-apy. The EMG biofeedback therapy, relaxation exercises and massaging were helpful in reducingthe tonicity of the muscles and isotonic and isomeric exercises carried out during speech therapyimproved the oro-motor mobility and strength. He was also able to phonate the vowels withlesser effort. There was an improvement in the oral preparatory and oral transport phase of swal-low with no aspiration reported. Thus, it can be concluded that speech and swallowing manage-ment on a long-term basis is essential for patients with PKAN. |
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