Neurological testing has been performed to determine the origins of these symptoms and multiple parts of the brain have been pinpointed including the brainstem, neocortex, pallidum, and thalamus. These cause various effects in those diagnosed with myoclonus dystonia including changes in posture and tremors, and very rarely dementia and ataxia. Cause
The majority of myoclonus dystonia cases are the result of a mutation in the epsilon sarcoglycan gene (SGCE). This gene is found on chromosome 7, with its specific cytogenic location being 7q21.3. The 70,985 bp SGCE gene encodes the protein epsilon (ε)-sarcoglycan. The five proteins that make up the sarcoglycan family function as integral membrane proteins that anchor the cytoskeleton of cells to the extracellular matrix. Epsilon sarcoglycan is a membrane protein that can be found in the liver, lungs, kidney, and spleen, but is most prevalent in muscle and neuronal cells. Its prevalence in both muscle fibers and the synapses of neurons suggest why symptoms of both myoclonus and dystonia appear from the improperly functioning protein. Recessive mutations in the other sarcoglycans also result in muscular disorders, further supporting that mutations in the SGCE gene cause myoclonus dystonia.Epsilon sarcoglycan itself is part of the dystrophin-associated protein (DAP) complex that binds the sarcolemma of muscle cells to the extracellular connective tissue. The purpose is to reduce the mechanical force on the sarcolemma as a result of muscle contraction.
A torus palatinus (pl. tori palatini), or palatal torus (pl. palatal tori), is a bony protrusion on the palate. Palatal tori are usually present on the midline of the hard palate. Most palatal tori are less than 2 cm in diameter, but their size can change throughout life. Types
Sometimes, the tori are categorized by their appearance. Arising as a broad base and a smooth surface, flat tori are located on the midline of the palate and extend symmetrically to either side. Spindle tori have a ridge located at their midline. Nodular tori have multiple bony growths that each have their own base. Lobular tori have multiple bony growths with a common base. Cause
Although some research suggest palatal tori to be an autosomal dominant trait, it is generally believed that palatal tori are caused by several factors. They are more common in early adult life and can increase in size. In some older people, the size of the tori may decrease due to bone resorption. It is believed that tori of the lower jaw are the result of local stresses and not due solely to genetic influences. Treatment
Palatal tori are usually a clinical finding with no treatment necessary. It is possible for ulcers to form on the area of the tori due to repeated trauma. Also, the tori may complicate the fabrication of dentures. If removal of the tori is needed, surgery can be done to reduce the amount of bone present. Surgical removal
A maxillary torus is only removed in instances where it is problematic.