ABSTRACT
Paroxysmal choreoathetosis(dyskinesia) is classified into two subtypes: paroxysmal kinesigenic choreoathetosis(PKC) and paroxysmal dystonic choreoathetosis(PDC). PDC consist of attacks of dystonia and /or choreoathetosis during which the patients are dysarthric or anarthric, have irregular clonic movement and dystonic posturing of extremities, and these not precipitated by sudden movement but rather by alocohol, coffee and stress. Attacks are longer (2ninute-4hours), but less frequently(3-4times/day) than PKC, they are not responsive to anticonvulsants(eg, phenytoin, carbamazepine) but controlled by clonazepam.This disease is rare, in the reported families, the transmission was clearly autosomal dominant with high penetrance.
Subject(s)
Humans , Coffee , Dystonia , Extremities , Penetrance , PhenytoinABSTRACT
Hereditary progressive dystonia develope in the first decade of ?life and is characterized by marked diurnal fluctuation of symptoms(dystonic postures and movements), i.e.symptoms aggrevated towards evening and alleviated after sleep. These symptoms and signs responded dramatically to levodopa. With the high incidence of familial cases this disorder is considers to be hereditary, but inheritance is not clear yet. Segawa regarded this disorder as a dystonia different from Parkinson's disease and other types of dystonic movement disorders, thereafter it has been reported under name of hereditary progressive dystonia with marked diurnal fluctuation.
Subject(s)
Dystonia , Incidence , Levodopa , Movement Disorders , Parkinson Disease , Posture , WillsABSTRACT
The pattern reversal visual evoked potential(PRVEP) and flash electroretinogram(flash ERG) were performed in 22 patients with optic atrophy. Patients with ophthalmologic problems other than optic atrophy or with systemic disorders were excluded from the analysis The results are as follows: 1. In the 41 eyes of patients with optic atrophy, 39 of them showed abnormal PRVEP, in which all the eyes had no consistent waveform except in one patient 2 eyes with delayed P1 latency. 2. 13 eyes were abnormal in both PRVEP and flash ERG but no eye was abnomnal in flash ERG only 3, Regarding the flash ERG examination, 13 eyes were abnomlal. Of these, there was a period of 1 to 2 years for 1 eye's disease, a period of 2 to 5 years for another eye' disease and after 5 years 11 eyes were diseased. Therefore, it showed that the longer the duration of disease lasted, the more flash ERG abnormalities developed. 4. The abnormalities of PRVEP haxe no significant relationship with the duration of the disease.
Subject(s)
Humans , Evoked Potentials, Visual , Optic AtrophyABSTRACT
These are 2 cases report of the Characot-Marie-Tooth disease. One patient is a 21 year-old female with gait ataxia, foot drop, muscular atrophy in the both feet, pes cavus and equinovarus. On family history, her older and younger brothers and younger sister showed same symptoms and signs which is rather milder. On neurologic examination, there were atrophy, high arched feet, and steppage gait. There were decreased pain, temperature and touch sensation, and absence of position and vibration, and absence of DTR in lower extremities. On sensory nerve conduction velocity study, the amplitude of evoked action potential is very low. On motor NCV, there are markedly prolonged distal latency and markedly decreased conduction velocity. On EMG study, there are dencervated potentials at rest and reduced interference pattern at maximal contraction. The other patient is 62 year-old female with gait disturbance, foot drop, muscular atrophy in the both feet, pes cavus and equinovarus. On family history, her father, 2 younger brothers and her 3 nephews showed same degree or rather mild degree of symptoms and signs. The findings on physical, neurologic examination and EMG with NCV study are compatible with Charcot-Marie-Tooth disease.