1.A Case of Dystonia Musculorum Deformans.
Ji Yong LEE ; Han Seon CHO ; Won Tsen KIM
Journal of the Korean Neurological Association 1988;6(2):268-271
No abstract available.
Dystonia Musculorum Deformans*
;
Dystonia*
2.A Case of Idiopathic Torsion Dystonal.
Hee Seung HONG ; Sung Soo LEE ; Joon Shik MOON ; Seung Min KIM ; IL Saing CHOI
Journal of the Korean Neurological Association 1990;8(1):166-170
Idiopathic torsion dystonia is a syndrome of sustained muscle contraction, frequently causing twisting and repetitive movement, or abnormal posture, which is both hereditary or sporadic. It is also classified by age of onset(childhood, adult, juveni1e) and distribution(generalized, focal, multifocal, segmental or hemidystonic). Its anatomical and biochemical pathophysiology are not exactly known yet, but high dosage anticholinergics are known to reduce the dystonic movement and posture in majority. We present a case of idiopathic torsion dystonia who has a family history of same syndrome, with review of literature.
Adult
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Cholinergic Antagonists
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Dystonia Musculorum Deformans
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Humans
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Muscle Contraction
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Posture
3.The DYT1 Gene Mutation in Primary Torsion Dystonia without Familial Background.
Chang Seon LEE ; Sun Ju CHUNG ; Joo Hyuk IM ; Myoung Chong LEE ; Han Wook YOO
Journal of the Korean Neurological Association 2003;21(2):169-173
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.
Chromosomes, Human, Pair 9
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Chungcheongnam-do
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Dystonia
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Dystonia Musculorum Deformans*
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Dystonic Disorders
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Humans
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Jews
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Korea
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Leg
4.A case of idiopathic exercise-induced axial dystonia with ipsilateral upper extremity atrophy.
Dong Kuck LEE ; Jin Kuk DO ; Kyu Ho KWAK ; Hee Jong OH
Journal of the Korean Neurological Association 1997;15(3):691-694
Torsion dystonia (TD) is a clinical syndrome characterized by prolonged spasms of muscle contraction, which distort the body into typical dystonic posture. The pathological or biochemical basis of either the familial types or of most sporadic forms of idiopathic or primary TD is unknown. We present a 40-year old man who showed a kinesigenic axial dystonia with ipsilateral upper extremity atrophy for 14 years. The symptoms and signs were spontaneous onset, nonprogrwsive course, and induced by voluntary activity but relieved by rest and sleep and responded to trihexyphenidyl medication.
Adult
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Atrophy*
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Dystonia Musculorum Deformans
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Dystonia*
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Humans
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Muscle Contraction
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Posture
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Spasm
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Trihexyphenidyl
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Upper Extremity*
5.Treatment of Torsion Dystonia with Motor Point Block Using Phenol : A case report.
Seong Woo KIM ; Sun Kyoung LEE ; Jung Bin SHIN ; Sung You YOU ; Won Suk LEE ; Sung Gin VAQ
Journal of the Korean Academy of Rehabilitation Medicine 2006;30(6):661-664
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
Dyskinesias
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Dystonia
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Dystonia Musculorum Deformans*
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Extremities
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Humans
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Muscle Contraction
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Muscles
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Phenol*
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Posture
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Spasm
;
Upper Extremity
7.The unique phenomenology of sex-linked dystonia parkinsonism (XDP, DYT3, "Lubag") .
Lee Lillian V. ; Rivera Corazon ; Teleg Rosalia A. ; Dantes Marita B. ; Pasco Paul Matthew D. ; Arancillo Jose ; Jamora Roland Dominic G. ; Villareal-Jordan Rodelyn F. ; Demaisip Cynthia ; Maranon Elma ; Peralta Olivia ; Rosales Raymond L. ; Borres Ruth ; Tolentino Cirnueb ; Monding Mercy Joyce ; Sarcia Sonia
Philippine Journal of Neurology 2012;16(1):63-71
Sex-linked dystonia parkinsonism (XDP, DYT3, "Lubag") is an adult-onset, progressive, debilitating movement disorder first described in Filipino males from Panay Island in 1975. XDP manifests predominantly as torsion dystonia, later combined with or sometimes replaced with parkinsonism. Within the Island of Panay, the preva-lence rate is highest in the province of Capiz, where 1:4000 men suffer from the disorder. There is a high degree of penetrance and generalization. While women often serve as carriers, XDP is not limited to men. An updated XDP Philippine registry (as of January 2010) has identified 505 cases, with 500 males and 5 females. While some report that females may carry a milder form of the disorder, in our experience, both sexes generally follow a similar progressive clinical course.
Human ; Male ; Female ; Aged ; Adult ; Dystonia ; Dystonia Musculorum Deformans ; Dystonic Disorders ; Genetic Diseases, X-linked ; Islands ; Parkinsonian Disorders ; Penetrance