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Progressive Parkinson’s disease – this is not a single disease but a syndrome that may be a manifestation of spinocerebellar degeneration, mitochondrial entsefalomiopaty, disease Unferrihta – Lundborg, late form of neuronal tseroidlipofustsinoza, biotinchuvstvitelnoy encephalopathy, the adult form of Gaucher disease, uremic encephalopathy, дентаторубропаллидолюисовой atrophy.
The combination of severe mental retardation, cerebellar ataxia, tremors and rhythmic (5-10 Hz), myoclonus in the hands and the face is characteristic of Parkinson’s syndrome associated with mutations in the gene that encodes the synthesis of GABA receptor subunit and is located on the 15th chromosome.
The combination of myoclonus with Parkinson’s disease and other extrapyramidal syndromes may in hepatolenticular degeneration, Huntington’s disease, progressive supranuclear palsy, multisystem atrophy, kortikobazalnoy degeneration, diffuse Lewy body disease. PD myoclonia is usually caused by side effects of the drug Sinemet.
Combination with progressive myoclonus with dementia (dementia, myoclonic) is observed most frequently in the three diseases – Alzheimer’s disease, Huntington’s disease and Creutzfeldt – Jakob disease.
Epileptic myoclonia can be generalized and focal. From a nosological point of view it may be a manifestation of primary (idiopathic) or cryptogenic and symptomatic myoclonic epilepsy.
Juvenile myoclonic epilepsy – a generalized hereditary epilepsy, the main manifestation of which is myoclonic seizures. The disease usually manifests in adolescence (12-18 years). Sudden myoclonic jerks sweeping often arise in the morning, often after awakening. Myoclonus is usually bilateral, more pronounced in the hands and can be of different amplitude – from subtle to dramatic jerky movements. Often, patients during the breakfast dishes from the table upset. In 80% of cases are reported as generalized tonic-clonic seizures, sometimes occurring after a short series of myoclonic jerks. Sometimes patients have a third type of seizures – absence seizures. Focal neurological symptoms and mental disorders are absent. Seizures triggered by emotion, sudden external stimulus, alcohol, insomnia, photostimulation. EEG reveals bilateral symmetric complexes of multiple-peak wave or slow waves. In the interictal period of EEG may be normal.
Treatment. Valproic acid preparations (Sinemet) effective nearly 90% of patients, but they have to take life. In case of intolerance of valproic acid can assign lamotrigine (lamiktala). Sometimes, mild myoclonus unnoticed, and attention is drawn only tonikoklonicheskie seizures, leading to inadequate treatment of other anticonvulsants.
