Guenter, Lina (2020) Progressive myoclonus ataxia and progressive myoclonic epilepsy: More differences than similarities. thesis, Medicine.
Full text available on request.Abstract
Progressive Myoclonus Ataxia (PMA) and Progressive Myoclonus Epilepsy (PME) are two rare and severe neurological clinical syndromes. Their main symptoms are the movement disorders, myoclonus and ataxia, and epilepsy. Many PMA and PME patients lose their ability to walk as children or adolescents. The aim of this study is to gain more information about the factors that influence disability in PMA and PME, first separately and then in comparison. This study presents a cohort of 24 PMA patients from the UMCG in comparison with 111 PME patients identified by the means of a systematic literature search. Clinical data was collected on disability (GMFCS levels), duration of disease, age at onset, current frequency of epilepsy, the severity of myoclonus (UMRS scale) and ataxia (SARA scale), and the presence of negative myoclonus. In the PMA cohort, duration of disease, SARA and UMRS were strongly and significantly correlated with GMFCS levels. The majority of non-ambulatory PMA patients expressed negative myoclonus. The age at onset in PMA patients (median 1.4 years) was not correlated with the GMFCS. Our PME cohort showed higher median values in duration of disease, age of onset and frequency of epilepsy. Only age of onset (median 15.3 years) showed a small clinically significant negative association with GMFCS. Information on severity of myoclonus and ataxia, and presence of negative myoclonus was lacking in literature, making the comparison between PMA and PME difficult. Clinicians and researchers are encouraged to assess severity of myoclonus and ataxia, and presence of negative myoclonus, as they have different treatment options and seem to influence disability considerably.
| Item Type: | Thesis (UNSPECIFIED) |
|---|---|
| Supervisor name: | Prof. dr. de Koning-Tijssen, M.A.J. and van der Veen, S. and dr. Tuitert, I. |
| Faculty: | Medical Sciences |
| Date Deposited: | 03 Oct 2023 11:39 |
| Last Modified: | 03 Oct 2023 11:39 |
| URI: | https://umcg.studenttheses.ub.rug.nl/id/eprint/3698 |
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