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Symptoms

The symptoms of myoclonus dystonia vary substantially in severity. The disorder is characterized by two primary features: myoclonus and dystonia. In the majority of individuals with myoclonus-dystonia, the myoclonus component of the disorder is often the primary and most disabling feature in comparison to the dystonia component.  

Myoclonus

Myoclonus is characterized by rapid contractions that affect the upper body including the neck, torso and arms, but may also affect the legs. These movements are stimulated by various factors including stress, noise, caffeine, and physical stimuli. Myoclonus can be characterized in multiple ways including neurological basis, muscular activity, and by stimuli. Myoclonus can be positive or negative; positive myoclonus results from brief spurts of muscle activity and negative myoclonus occurs when there is a lack of any muscular activity. Classifying myoclonus physiologically is most the most common characterization and more advantageous for treatment of those diagnosed. Myoclonus is a precursor effect to myoclonus dystonia and most commonly begins in childhood or adolescence.http://www.ncbi.nlm.nih.gov/books/NBK1414/) (http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3036960/)

Physiological Characterization

Myoclonus is classified as cortical, subcortical, peripheral or spinal. Cortical myoclonus is the most common of these four and affects the upper limbs and face. Myoclonus dystonia has been characterized under subcortical origin, specifically under nonsegmented myoclonus or brainstem myoclonus. Symptoms within this classification include the startle response and reticular reflex myoclonus. Sudden stimuli like noise or touch to areas around the head or chest cause the startle response which will go up the brain stem and down the spinal cord causing jerk-like movements. Hyperekplexia is a heightened brainstem response where an affected person will continue to elicit the same response to a repeated stimuli. In contrast, reticular reflex myoclonus occurs spontaneously to stimuli applied to distal limbs.

Dystonia

Dystonia is a response of the myoclonus occurring to a person, the most common being cervical dystonia or writer’s cramp (http://www.ncbi.nlm.nih.gov/books/NBK1414/). These symptoms change the natural posture or alignment of those affected due to the contraction of agonist and antagonist muscles at the same time. Dystonia can be either primary or secondary; primary has no neurological abnormalities occurring while secondary does and is more common. The symptoms of dystonia do not increase over time. (http://www.ncbi.nlm.nih.gov/pubmed/22166420).

Myoclonus dystonia

This disease will typically begin during childhood with symptoms of myoclonus and slight dystonia. Any neurological abnormalities won't be present at a young age, but can be clinically diagnosed with coinciding psychiatric issues. These include, but are not limited to, depression, anxiety, personality disorders and addiction. Obsessive compulsive disorder is a common feature with myoclonus dystonia and these have been found to have a commonality on chromosome 7 in various studies.

Neurological symptoms are relatively common in those with myoclonus dystonia. Neurological testing has been performed to determine the origins of these symptoms and multiple parts of the brain have been pinpointed including the brain stem, neocortex, pallidum, and thalamus.

http://www.ncbi.nlm.nih.gov/books/NBK1414/