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Myoclonic dystonia or Myoclonus dystonia syndrome is a rare movement disorder that induces spontaneous muscle contraction causing abnormal posture. The prevalence of myoclonus dystonia has not been reported, however, this disorder falls under the umbrella of movement disorders which affect thousands worldwide. [ 1 ]
Myoclonus is a brief, involuntary, irregular (lacking rhythm) twitching of a muscle, a joint, or a group of muscles, different from clonus, which is rhythmic or regular. Myoclonus (myo-"muscle", clonus "spasm") describes a medical sign and, generally, is not a diagnosis of a disease.
Dystonia is a neurological hyperkinetic movement disorder in which sustained or repetitive muscle contractions occur involuntarily, resulting in twisting and repetitive movements or abnormal fixed postures. [3] The movements may resemble a tremor. Dystonia is often intensified or exacerbated by physical activity, and symptoms may progress into ...
Movement disorders including tremors, dystonia (spasms), myoclonus (jerky movements) Visual symptoms including loss of vision or double vision; Speech symptoms including dysphonia (whispering speech), slurred or stuttering speech; Sensory disturbance including hemisensory syndrome (altered sensation down one side of the body)
8910 20392 Ensembl ENSG00000127990 ENSMUSG00000004631 UniProt O43556 O70258 RefSeq (mRNA) NM_001099400 NM_001099401 NM_001301139 NM_003919 NM_001346713 NM_001346715 NM_001346717 NM_001346719 NM_001346720 NM_001362807 NM_001362808 NM_001362809 NM_001130188 NM_001130189 NM_001130190 NM_001130191 NM_011360 RefSeq (protein) NP_001092870 NP_001092871 NP_001288068 NP_001333642 NP_001333644 NP ...
Some examples include athetosis, chorea with or without hemiballismus, tremor, dystonia, and segmental or focal myoclonus, although the prevalence of these manifestations after stroke is quite low. The amount of time that passes between stroke event and presentation of hyperkinesia depends on the type of hyperkinetic movement since their ...
Autosomal dominant GTP cyclohydrolase I deficiency; Other names: Autosomal dominant Segawa syndrome (the autosomal recessive form of Segawa syndrome is caused by mutations in a different gene that encodes tyrosine hydroxylase), Dopa-responsive dystonia 5a, Autosomal dominant DYT/PARK-GCH1 (designation in accordance with the Nomenclature of Genetic Movement Disorders maintained by the ...
Tardive tourettism is a tic disorder featuring the same symptoms as Tourette syndrome. The two disorders are extremely close in nature and often can only be differentiated by the details of their respective onsets. Tardive myoclonus, a rare disorder, presents as brief jerks of muscles in the face, neck, trunk, and extremities. [13]