In addition to myoclonus dystonia, problems associated with a dysfunctional DAP complex include Duchenne muscular dystrophy.Upwards of 65 mutations of the SGCE gene are thought to cause myoclonus dystonia. The majority of the mutations lead to a truncated protein product that results in the loss-of-function of the epsilon sarcoglycan protein. The dysfunctional protein is ultimately recycled by the cell by degradation mediated by the proteasome, resulting in significant shortages of the integral membrane protein in both neurons and muscle fibers. The mutant allele is inherited in a dominant fashion—that is the mutation can be inherited if one parent has that allele. However, genomic imprinting occurs on the mothers allele, so only the fathers allele is expressed. Therefore, inheriting a mutated, paternal allele of the SGCE gene will result in the expression of the dysfunctional epsilon sarcoglycan protein. Offspring will not produce a mutant protein product in 95% of cases where the mother passes on a mutation in the SGCE gene.While SGCE gene mutations are the central cause of myoclonus dystonia, there have been separate cases where individuals and families present symptoms akin to myoclonus dystonia but lack the mutations at this locus. Base-pair deletions of the DYT1 gene, missense mutations in the DRD2 gene, maternal uniparental disomy, and chromosome 18 linkage have all been associated in rare cases myoclonus dystonia where the SGCE gene is unaffected. Treatment
To date, there is no single, universal treatment that has been found to cure myoclonus dystonia.
Pneumococcal pneumonia is a type of bacterial pneumonia that is caused by Streptococcus pneumoniae (pneumococcus). It is the most common bacterial pneumonia found in adults, the most common type of community-acquired pneumonia, and one of the common types of pneumococcal infection. The estimated number of Americans with pneumococcal pneumonia is 900,000 annually, with almost 400,000 cases hospitalized and fatalities accounting for 5-7% of these cases. Symptoms
The symptoms of pneumococcal pneumonia can occur suddenly, presenting as a severe chill, followed by a severe fever, cough, shortness of breath, rapid breathing, and chest pains. Other symptoms like nausea, vomiting, headache, fatigue, and muscle aches could also accompany initial symptoms. The coughing can occasionally produce rusty or blood-streaked sputum. In 25% of cases, a parapneumonic effusion may occur. Chest X-rays will typically show lobar consolidation or patchy infiltrates. Treatment
In most cases, once pneumococcal pneumonia has been identified, doctors will prescribe antibiotics. These antibiotics usually help alleviate and eliminate symptoms between 12 and 36 hours after the initial dose. Despite most antibiotics effectiveness in treating the disease, sometimes the bacteria can resist the antibiotics, causing symptoms to worsen. Age and health of the infected patient can also contribute to the effectiveness of the antibiotics. A vaccine has been developed for the prevention of pneumococcal pneumonia, recommended to children under age five as well as adults over the age of 65.