Myoclonus-dystonia: Distinctive motor and non-motor phenotype from other dystonia syndromes
نویسندگان
چکیده
منابع مشابه
Motor and Sensory Dysfunction in Musician’s Dystonia
Musicians' dystonia is a task-specific and painless loss of motor control in a previously well-executed task. It is increasingly recognized in the medical and musical community. Recent advances in neuroimaging, transcranial magnetic stimulation and novel techniques in electroencephalography have shed light on its underlying pathophysiology. To date, a deranged cortical plasticity leading to abn...
متن کاملMyoclonus-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 کاملAbnormal nuclear envelopes in the striatum and motor deficits in DYT11 myoclonus-dystonia mouse models.
DYT11 myoclonus-dystonia (M-D) is a movement disorder characterized by myoclonic jerks with dystonic symptoms and caused by mutations in paternally expressed SGCE, which codes for ε-sarcoglycan. Paternally inherited Sgce heterozygous knock-out (KO) mice exhibit motor deficits and spontaneous myoclonus. Abnormal nuclear envelopes have been reported in cellular and mouse models of early-onset DYT...
متن کاملMotor Unit Abnormalities in Dystonia musculorum Mice
Dystonia musculorum (dt) is a mouse inherited sensory neuropathy caused by mutations in the dystonin gene. While the primary pathology lies in the sensory neurons of dt mice, the overt movement disorder suggests motor neurons may also be affected. Here, we report on the contribution of motor neurons to the pathology in dt(27J) mice. Phenotypic dt(27J) mice display reduced alpha motor neuron cel...
متن کاملImprovement of Isolated Myoclonus Phenotype in Myoclonus Dystonia after Pallidal Deep Brain Stimulation.
BACKGROUND Myoclonus-dystonia is a condition that manifests predominantly as myoclonic jerks with focal dystonia. It is genetically heterogeneous with most mutations in the epsilon sarcoglycan gene (SGCE). In medically refractory cases, deep brain stimulation (DBS) has been shown to provide marked sustainable clinical improvement, especially in SGCE-positive patients. We present two patients wi...
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ژورنال
عنوان ژورنال: Parkinsonism & Related Disorders
سال: 2019
ISSN: 1353-8020
DOI: 10.1016/j.parkreldis.2019.10.015