Multifocal dystonia affects many different parts of the body. Generalized dystonia affects most of the body, frequently involving the legs and back. Genetic/primary
There is a group called myoclonic dystonia where some cases are hereditary and have been associated with a missense mutation in the dopamine-D2 receptor. Some of these cases have responded well to alcohol.Other genes that have been associated with dystonia include CIZ1, GNAL, ATP1A3, and PRRT2. Another report has linked THAP1 and SLC20A2 to dystonia. Signs and symptoms
Symptoms vary according to the kind of dystonia involved. In most cases, dystonia tends to lead to abnormal posturing, in particular on movement. Many individuals with the condition have continuous pain, cramping, and relentless muscle spasms due to involuntary muscle movements. Other motor symptoms are possible including lip smacking.Early symptoms may include loss of precision muscle coordination (sometimes first manifested in declining penmanship, frequent small injuries to the hands, and dropped items), cramping pain with sustained use, and trembling. Significant muscle pain and cramping may result from very minor exertions like holding a book and turning pages. It may become difficult to find a comfortable position for arms and legs with even the minor exertions associated with holding arms crossed causing significant pain similar to restless leg syndrome. Affected persons may notice trembling in the diaphragm while breathing, or the need to place hands in pockets, under legs while sitting or under pillows while sleeping to keep them still and to reduce pain.
Consequently, there is currently no consistently effective antifungal therapy for this agent. Miconazole has shown the best in vivo activity; however, itraconazole, fluconazole, ketoconazole and voriconazole have also been used in treatment, albeit with less success. In an in vitro environment, terbinafine has been found to work in synergy with azoles against P. boydii. Echinocandins, such as caspofungin and sordarins, have shown promise in in vitro assays. CMT-3, a chemically modified tetracycline, has also shown to be active in vitro against P. boydii. Epidemiology
In the United States, P. boydii is the most common causal agent of eumycetoma, and tends to be more common in men than in women, particularly in the 20- to 45-year-old age group. In the United States, the incidence of infection by S. apiospermum between 1993 and 1998 was 0.82; this figure increased to 1.33 by 2005. Pseudallescheria boydii infection was implicated in the deaths of three athletes injured during the opening ceremony of the 1997 Maccabiah Games when the Maccabiah bridge collapsed in the Yarkon River. == References ==