| 000 | 02511caa a2200253 4500 | ||
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| 008 | 210629s9999 xx 000 0 und d | ||
| 022 | _a2377-2484 | ||
| 100 | _aAppas Sahaa | ||
| 245 | 0 | _aPantothenate kinase-associated neurodegeneration (PKAN)–a rare clinicalentity | |
| 260 |
_b Informa UK Limited _c2016 |
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| 270 | _aAli Yavar Jung National Institute for the Hearing Handicapped, Southern Regional Centre, Secundrabad, India | ||
| 270 | _aLecturer (Audiologyand Speech Therapy), Deparment of ENT, Swami Rama Himalayan University, Dehradun, Uttarakhand, India | ||
| 270 | _aReader in SpeechPathology, Departmentof Speech-Language Pathology, All India Institute of Speech and Hearing, Mysuru, Karnataka, India | ||
| 270 | _msimpleshabnam@gmail.com | ||
| 300 | _a90–97 | ||
| 490 | _vVolume 1 Issue 1 | ||
| 520 | _aPantothenate 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. | ||
| 653 | _aHallervorden–Spatz disease;pantothenate kinase-associated neurodegenera-tion; dysarthria; dysphagia | ||
| 700 | _aSrushti Shabnamband | ||
| 700 | _aSwapna, N | ||
| 773 | _aACTA OTO-LARYNGOLOGICA CASE REPORTS | ||
| 856 | _uhttps://doi.org/10.1080/23772484.2016.1247649 | ||
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_cFJAS _yFJAS |
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