Segawa Syndrome, a Dramatic Response to Dopamine
Segawa syndrome usually manifests as dystonia, disturbance of gait with fatigue, and may be confused with spasticity. Also known as dopamine-responsive dystonia (DRD), it should be considered in any child who presents with paroxysmal or progressive hypertonia of unknown etiology, which responds dram...
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| Format: | Article |
| Language: | English |
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Wiley
2024-01-01
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| Series: | Case Reports in Neurological Medicine |
| Online Access: | http://dx.doi.org/10.1155/2024/8154006 |
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| author | Omkar Dhungel Amit Shrestha Pawan Sharma Nidesh Sapkota Raju Paudel |
| author_facet | Omkar Dhungel Amit Shrestha Pawan Sharma Nidesh Sapkota Raju Paudel |
| author_sort | Omkar Dhungel |
| collection | DOAJ |
| description | Segawa syndrome usually manifests as dystonia, disturbance of gait with fatigue, and may be confused with spasticity. Also known as dopamine-responsive dystonia (DRD), it should be considered in any child who presents with paroxysmal or progressive hypertonia of unknown etiology, which responds dramatically to levodopa. It is a clinical diagnosis, but the level of pterins in cerebrospinal fluid and guanosine triphosphate cyclohydrolase-1 (GTCH 1) gene mutation testing done by molecular genetic testing are confirmatory. Our case is a 45-year female with a family history of similar illness expressed as autosomal recessive inheritance pattern. She had symptoms onset at an early age of 13 years with features of dystonia of predominantly lower limbs, hence the inability to maintain posture and walk. Dramatic improvement with levodopa but sudden deterioration to dystonia due to noncompliance was evident in our patient with troublesome features of concomitant adjustment disorder during presentation. |
| format | Article |
| id | doaj-art-4b99c7aab21e49c69325817b603956f9 |
| institution | Kabale University |
| issn | 2090-6676 |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Neurological Medicine |
| spelling | doaj-art-4b99c7aab21e49c69325817b603956f92025-08-20T03:34:18ZengWileyCase Reports in Neurological Medicine2090-66762024-01-01202410.1155/2024/8154006Segawa Syndrome, a Dramatic Response to DopamineOmkar Dhungel0Amit Shrestha1Pawan Sharma2Nidesh Sapkota3Raju Paudel4Department of PsychiatryDepartment of PsychiatryDepartment of PsychiatryDepartment of PsychiatryDepartment of NeurologySegawa syndrome usually manifests as dystonia, disturbance of gait with fatigue, and may be confused with spasticity. Also known as dopamine-responsive dystonia (DRD), it should be considered in any child who presents with paroxysmal or progressive hypertonia of unknown etiology, which responds dramatically to levodopa. It is a clinical diagnosis, but the level of pterins in cerebrospinal fluid and guanosine triphosphate cyclohydrolase-1 (GTCH 1) gene mutation testing done by molecular genetic testing are confirmatory. Our case is a 45-year female with a family history of similar illness expressed as autosomal recessive inheritance pattern. She had symptoms onset at an early age of 13 years with features of dystonia of predominantly lower limbs, hence the inability to maintain posture and walk. Dramatic improvement with levodopa but sudden deterioration to dystonia due to noncompliance was evident in our patient with troublesome features of concomitant adjustment disorder during presentation.http://dx.doi.org/10.1155/2024/8154006 |
| spellingShingle | Omkar Dhungel Amit Shrestha Pawan Sharma Nidesh Sapkota Raju Paudel Segawa Syndrome, a Dramatic Response to Dopamine Case Reports in Neurological Medicine |
| title | Segawa Syndrome, a Dramatic Response to Dopamine |
| title_full | Segawa Syndrome, a Dramatic Response to Dopamine |
| title_fullStr | Segawa Syndrome, a Dramatic Response to Dopamine |
| title_full_unstemmed | Segawa Syndrome, a Dramatic Response to Dopamine |
| title_short | Segawa Syndrome, a Dramatic Response to Dopamine |
| title_sort | segawa syndrome a dramatic response to dopamine |
| url | http://dx.doi.org/10.1155/2024/8154006 |
| work_keys_str_mv | AT omkardhungel segawasyndromeadramaticresponsetodopamine AT amitshrestha segawasyndromeadramaticresponsetodopamine AT pawansharma segawasyndromeadramaticresponsetodopamine AT nideshsapkota segawasyndromeadramaticresponsetodopamine AT rajupaudel segawasyndromeadramaticresponsetodopamine |