Diligent family history to detect a mitochondrial disorder in disguise: Lessons from a case of myoclonic epilepsy
Mitochondrial disorders often present with ataxia, myoclonus, and epilepsy. Valproic acid may be selected for treating myoclonus if it is the presenting feature. While it is efficacious in suppressing cortical myoclonus, valproic acid is a known mitochondrial toxin and, therefore, not recommended. W...
Saved in:
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2024-12-01
|
| Series: | Annals of Movement Disorders |
| Subjects: | |
| Online Access: | https://doi.org/10.4103/aomd.aomd_22_24 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1841525522068144128 |
|---|---|
| author | Suvorit S. Bhowmick Radhay Parikh Pratishtha Shrivastav |
| author_facet | Suvorit S. Bhowmick Radhay Parikh Pratishtha Shrivastav |
| author_sort | Suvorit S. Bhowmick |
| collection | DOAJ |
| description | Mitochondrial disorders often present with ataxia, myoclonus, and epilepsy. Valproic acid may be selected for treating myoclonus if it is the presenting feature. While it is efficacious in suppressing cortical myoclonus, valproic acid is a known mitochondrial toxin and, therefore, not recommended. We report a family carrying the mitochondrial A8344G mutation. The proband, after being treated with valproic acid for myoclonic epilepsy, presented with gradually progressive cerebellar ataxia. He had a re-emergence of myoclonus upon withdrawal of valproic acid about 15 years later. The mitochondrial A8344G mutation, given its diverse clinical manifestations and intrafamilial phenotypic heterogeneity, evaded early recognition. Individuals carrying this mutation need life-long anti-epileptic therapy for myoclonus. Thus, it is important to recognize the mitochondrial disorder and select appropriate drugs. |
| format | Article |
| id | doaj-art-1cfe7ffea1554bfc9c0707e3c0c3d908 |
| institution | Kabale University |
| issn | 2590-3446 2590-3454 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Annals of Movement Disorders |
| spelling | doaj-art-1cfe7ffea1554bfc9c0707e3c0c3d9082025-01-17T10:41:07ZengWolters Kluwer Medknow PublicationsAnnals of Movement Disorders2590-34462590-34542024-12-017321121410.4103/aomd.aomd_22_24Diligent family history to detect a mitochondrial disorder in disguise: Lessons from a case of myoclonic epilepsySuvorit S. BhowmickRadhay ParikhPratishtha ShrivastavMitochondrial disorders often present with ataxia, myoclonus, and epilepsy. Valproic acid may be selected for treating myoclonus if it is the presenting feature. While it is efficacious in suppressing cortical myoclonus, valproic acid is a known mitochondrial toxin and, therefore, not recommended. We report a family carrying the mitochondrial A8344G mutation. The proband, after being treated with valproic acid for myoclonic epilepsy, presented with gradually progressive cerebellar ataxia. He had a re-emergence of myoclonus upon withdrawal of valproic acid about 15 years later. The mitochondrial A8344G mutation, given its diverse clinical manifestations and intrafamilial phenotypic heterogeneity, evaded early recognition. Individuals carrying this mutation need life-long anti-epileptic therapy for myoclonus. Thus, it is important to recognize the mitochondrial disorder and select appropriate drugs.https://doi.org/10.4103/aomd.aomd_22_24cerebellar ataxiamitochondrial disordermyoclonus |
| spellingShingle | Suvorit S. Bhowmick Radhay Parikh Pratishtha Shrivastav Diligent family history to detect a mitochondrial disorder in disguise: Lessons from a case of myoclonic epilepsy Annals of Movement Disorders cerebellar ataxia mitochondrial disorder myoclonus |
| title | Diligent family history to detect a mitochondrial disorder in disguise: Lessons from a case of myoclonic epilepsy |
| title_full | Diligent family history to detect a mitochondrial disorder in disguise: Lessons from a case of myoclonic epilepsy |
| title_fullStr | Diligent family history to detect a mitochondrial disorder in disguise: Lessons from a case of myoclonic epilepsy |
| title_full_unstemmed | Diligent family history to detect a mitochondrial disorder in disguise: Lessons from a case of myoclonic epilepsy |
| title_short | Diligent family history to detect a mitochondrial disorder in disguise: Lessons from a case of myoclonic epilepsy |
| title_sort | diligent family history to detect a mitochondrial disorder in disguise lessons from a case of myoclonic epilepsy |
| topic | cerebellar ataxia mitochondrial disorder myoclonus |
| url | https://doi.org/10.4103/aomd.aomd_22_24 |
| work_keys_str_mv | AT suvoritsbhowmick diligentfamilyhistorytodetectamitochondrialdisorderindisguiselessonsfromacaseofmyoclonicepilepsy AT radhayparikh diligentfamilyhistorytodetectamitochondrialdisorderindisguiselessonsfromacaseofmyoclonicepilepsy AT pratishthashrivastav diligentfamilyhistorytodetectamitochondrialdisorderindisguiselessonsfromacaseofmyoclonicepilepsy |