Treatment of Torsion Dystonia with Motor Point Block Using Phenol : A case report

Dystonia is an abnormal movement characterized by sustained muscle contractions, frequently causing twisting and repetitive movements or abnormal postures. Torsion dystonia is characterized by torsion spasms of muscle contraction, which distorts the limbs and trunk into dystonic postures. We present a case of a patient with torsion dystonia who was recalcitrant to oral medication or even surgical operations. This patient was treated with motor point block using 5% phenol solution. Using electromyographical guidance, phenol was injected into the paraspinal and upper extremity muscles, respectively. He showed reduction of dystonia and improvement of functional abilities. Motor point block using phenol can be considered as a tool of the management for patients with torsion dystonia. MDVAQ@yumc.yonsei.ac.kr

The DYT1 Gene Mutation in Primary Torsion Dystonia without Familial Background

BACKGROUND: The DYT1 dystonia is primary torsion dystonia (PTD) caused by a GAG deletion in DYT1 gene on chromosome 9 and transmits as autosomal dominant trait. It usually begins as limb-onset dystonia in childhood and tends to spread to other sites and has been reported as the most common cause of early onset PTD in Ashkenazi Jews. However, the frequency of DYT1 mutation in Korean patients with sporadic PTD has not been reported. METHODS: We examined dystonia patients who visited the Neurologic Clinic of Asan Medical Center between Jan 2001 and March 2002. The sporadic PTD patients of them were screened by genotyping with their peripheral blood samples. RESULTS: The 66 patients with sporadic PTD were recruited and two of them showed DYT1 mutation on Chromosome 9. One patient had segmental dystonia with cervical onset; the other had generalized dystonia with left leg onset. None of the patients with focal dystonia showed a DYT1 mutation. CONCLUSIONS: The DYT1 dystonia comprise a small portion of PTD without familial history in Korea. The DYT1 gene test should be considered in the early-onset or spreading type dystonia despite the absence of familial background in primary dystonia patient.