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Could miglustat be a potential candidate in the treatment of action myoclonus renal failure syndrome?

Could miglustat be a potential candidate in the treatment of action myoclonus renal failure... Acta Neurologica Belgica https://doi.org/10.1007/s13760-023-02269-z LE T TER TO  THE   EDITOR Could miglustat be a potential candidate in the treatment of action myoclonus renal failure syndrome? 1 2 2 3 1 Seyda Erdoğan  · Gül Yalçın Çakmaklı  · Bülent Elibol  · Serdar Ceylaner  · M. Cenk Akbostancı Received: 20 January 2023 / Accepted: 5 April 2023 © The Author(s) under exclusive licence to Belgian Neurological Society 2023 Introduction brothers died in a traffic accident. Another living brother was 40 years old, had a non-disabling tremor in his hands. Action myoclonus renal failure syndrome (AMRFS) is a Neurological examination revealed severe dysarthria, rare disorder due to mutations of the SCARB2 gene (Scav- ataxia, together with high amplitude action and postural enger Receptor B2), with a fatal course, and unfortunately tremor of both hands, complicated by bouts of stimulus with no established therapy [1, 2]. Here, we report a patient (touch) sensitive generalized action myoclonus involving with AMRFS who was followed under miglustat treatment his face, tongue, body and all extremities, which made him and discussed the potential benefits. To our knowledge, two unable to stand or even retain a stable sitting position. He AMRFS patients treated with miglustat have been reported had bilateral pes cavus and hammer toe deformity. Deep in the http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Acta Neurologica Belgica Springer Journals

Could miglustat be a potential candidate in the treatment of action myoclonus renal failure syndrome?

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References (16)

Publisher
Springer Journals
Copyright
Copyright © The Author(s) under exclusive licence to Belgian Neurological Society 2023
ISSN
0300-9009
eISSN
2240-2993
DOI
10.1007/s13760-023-02269-z
Publisher site
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Abstract

Acta Neurologica Belgica https://doi.org/10.1007/s13760-023-02269-z LE T TER TO  THE   EDITOR Could miglustat be a potential candidate in the treatment of action myoclonus renal failure syndrome? 1 2 2 3 1 Seyda Erdoğan  · Gül Yalçın Çakmaklı  · Bülent Elibol  · Serdar Ceylaner  · M. Cenk Akbostancı Received: 20 January 2023 / Accepted: 5 April 2023 © The Author(s) under exclusive licence to Belgian Neurological Society 2023 Introduction brothers died in a traffic accident. Another living brother was 40 years old, had a non-disabling tremor in his hands. Action myoclonus renal failure syndrome (AMRFS) is a Neurological examination revealed severe dysarthria, rare disorder due to mutations of the SCARB2 gene (Scav- ataxia, together with high amplitude action and postural enger Receptor B2), with a fatal course, and unfortunately tremor of both hands, complicated by bouts of stimulus with no established therapy [1, 2]. Here, we report a patient (touch) sensitive generalized action myoclonus involving with AMRFS who was followed under miglustat treatment his face, tongue, body and all extremities, which made him and discussed the potential benefits. To our knowledge, two unable to stand or even retain a stable sitting position. He AMRFS patients treated with miglustat have been reported had bilateral pes cavus and hammer toe deformity. Deep in the

Journal

Acta Neurologica Belgica – Springer Journals

Published: Dec 1, 2023

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