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Updated: Jun 17, 2025
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Severe Acute Motor Exacerbations (SAME) across Metabolic, Developmental and Genetic Disorders
Blas Couto1,2, Serena Galosi3, Dora Steel4,5
1Edmond J. Safra Program in Parkinson's Disease, Rossy PSP Centre and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, Toronto, Ontario, Canada.
Summary
Severe acute motor exacerbations (SAME) present a diagnostic challenge, affecting vital signs and bulbar function. Identifying triggers and underlying causes is key for targeted therapies and improved neurological outcomes in diverse genetic and metabolic disorders.
Area of Science:
- Neurology
- Metabolic Disorders
- Genetics
Background:
- Severe acute motor exacerbations (SAME) are challenging neurological presentations.
- SAME involve acute/subacute motor symptoms compromising vital signs and bulbar function.
- SAME occur in various conditions, including metabolic, neurodevelopmental, and epileptic encephalopathies.
Purpose of the Study:
- To define and characterize severe acute motor exacerbations (SAME).
- To analyze the diverse etiologies and triggers of SAME.
- To provide an approach to investigation and management of SAME.
Main Methods:
- Comprehensive literature analysis of SAME etiologies.
- Classification of reported triggers by pathophysiological mechanism.
- Case video examples illustrating SAME presentations.
Main Results:
- Identified 50 conditions manifesting SAME, including metabolic and non-metabolic disorders.
- Etiologies span metabolic pathways (energy, amino acids, molecules, vitamins, minerals, neurotransmitters) and neurogenetic conditions.
- Triggers were classified, and management strategies outlined.
Conclusions:
- SAME require high clinical suspicion for timely diagnosis and targeted management.
- Identifying triggers aids in differential diagnosis and application of specific therapies.
- Understanding SAME pathogenesis can lead to improved neurological outcomes and inform future research.
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