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Neuromuscular Overview

The central nervous system is perhaps the most at risk organ system in mitochondrial disease because of its high dependency on energy. 

The potential symptoms affecting the brain are myriad and affect all aspects of function.  Onset can occur prenatally or not for several decades, if at all. 

Cognitive development can range from normal to severe retardation.  The course of patients with developmental delays may proceed in any manner of patterns, including gradual progress forward, a plateauing of skills, or gradual decline.  Transient regression is not uncommon during periods of stress such as infections or following surgery; recovery to baseline may take days or weeks depending in part upon the severity and duration of the stressor.  Permanent regression is also observed and may occur as part of the natural course of the disease or following a prolonged series of srressors.

Many symptoms may have more than one cause in mitochondrial disease.  The etiology of hypotonia may be muscular or due to a cause in the central nervous system.  Limb pain may be muscular or due to neuropathy, and it may be difficult for the patient or the clinician to discern one from the other.  CNS dysfunction may result in ataxia but the symptom could also be due to vascular dysautonomia.

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