منابع مشابه
Myoclonus-dystonia syndrome: case report
Myoclonus-dystonia syndrome (MDS) is a rare disease manifesting myoclonus as the only neurological symptom which may be accompanied by dystonia. It usually starts in the first or second decade of life. It has a benign course with spontaneous remissions but can cause functional disability in some patients. In this paper, we report a patient diagnosed as probable MDS on the basis of clinical and ...
متن کاملPallidal stimulation relieves myoclonus-dystonia syndrome.
A patient with myoclonus-dystonia syndrome was treated by implanting electrodes in the internal segment of the globus pallidus (GPi) and applying deep brain stimulation. Surgery was done in two sessions. The most affected limb was treated first and the other limb one year later. Neuronal recordings showed that most pallidal neurones discharged in bursts at a relatively low firing rate (mean (SD...
متن کاملCACNA1B mutation is linked to unique myoclonus-dystonia syndrome.
Using exome sequencing and linkage analysis in a three-generation family with a unique dominant myoclonus-dystonia-like syndrome with cardiac arrhythmias, we identified a mutation in the CACNA1B gene, coding for neuronal voltage-gated calcium channels CaV2.2. This mutation (c.4166G>A;p.Arg1389His) is a disruptive missense mutation in the outer region of the ion pore. The functional consequences...
متن کاملSpeech-activated Myoclonus Mimicking Stuttering in a Patient with Myoclonus–Dystonia Syndrome
BACKGROUND Acquired neurogenic stuttering has been considered a fairly uncommon clinical occurrence; speech-activated myoclonus is a rare entity that can mimic stuttering and is caused by a wide array of etiologies. CASE REPORT Here we report a patient with myoclonus-dystonia syndrome (MDS), due to an identified disease-causing mutation, who displayed speech-activated myoclonus mimicking stut...
متن کاملMyoclonus-dystonia due to maternal uniparental disomy.
BACKGROUND Myoclonus-dystonia is a movement disorder often associated with mutations in the maternally imprinted epsilon-sarcoglycan (SGCE) gene located on chromosome 7q21. Silver-Russell syndrome is a heterogeneous disorder characterized by prenatal and postnatal growth restriction and a characteristic facies, caused in some cases by maternal uniparental disomy of chromosome 7. OBJECTIVES To...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 2002
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-16-11-4