Pantothenate kinase-associated neurodegeneration (PKAN)–a rare clinicalentity (Record no. 17719)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02511caa a2200253 4500 |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 2377-2484 |
| 100 ## - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Appas Sahaa |
| 245 #0 - TITLE STATEMENT | |
| Title | Pantothenate kinase-associated neurodegeneration (PKAN)–a rare clinicalentity |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Informa UK Limited |
| Date of publication, distribution, etc. | 2016 |
| 270 ## - ADDRESS | |
| Address | Ali Yavar Jung National Institute for the Hearing Handicapped, Southern Regional Centre, Secundrabad, India |
| 270 ## - ADDRESS | |
| Address | Lecturer (Audiologyand Speech Therapy), Deparment of ENT, Swami Rama Himalayan University, Dehradun, Uttarakhand, India |
| 270 ## - ADDRESS | |
| Address | Reader in SpeechPathology, Departmentof Speech-Language Pathology, All India Institute of Speech and Hearing, Mysuru, Karnataka, India |
| 270 ## - ADDRESS | |
| Electronic mail address | simpleshabnam@gmail.com |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 90–97 |
| 490 ## - SERIES STATEMENT | |
| Volume/sequential designation | Volume 1 Issue 1 |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | 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. |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Hallervorden–Spatz disease;pantothenate kinase-associated neurodegenera-tion; dysarthria; dysphagia |
| 700 ## - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Srushti Shabnamband |
| 700 ## - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Swapna, N |
| 773 ## - HOST ITEM ENTRY | |
| Main entry heading | ACTA OTO-LARYNGOLOGICA CASE REPORTS |
| 856 ## - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | https://doi.org/10.1080/23772484.2016.1247649 |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) | |
| Koha item type | Faculty Publications |
| -- | FJAS |
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