ABSTRACT
Paroxysmal kinesigenic dyskinesia (PKD) is characterized by involuntary dystonia and/or chorea triggered by a sudden movement. Cases are usually familial with an autosomal dominant inheritance. Hypotheses regarding the pathogenesis of PKD focus on the controversy whether PKD has a cortical or non-cortical origin. A combined familial trait of PKD and benign familial infantile seizures has been reported as the infantile convulsions and paroxysmal choreoathetosis (ICCA) syndrome. Here, we report a family diagnosed with ICCA syndrome with an Arg217STOP mutation. The index patient showed interictal EEG focal changes compatible with paroxysmal dystonic movements of his contralateral leg. This might support cortical involvement in PKD.
Subject(s)
Dyskinesias , Dystonia , Epilepsy, Benign Neonatal , Membrane Proteins/genetics , Mutation/genetics , Nerve Tissue Proteins/genetics , Seizures , Adolescent , Arginine/genetics , Chromosomes, Human, Pair 16/genetics , Codon, Terminator/genetics , DNA Mutational Analysis , Dyskinesias/complications , Dyskinesias/genetics , Dyskinesias/pathology , Dystonia/complications , Dystonia/genetics , Dystonia/pathology , Electroencephalography , Epilepsy, Benign Neonatal/complications , Epilepsy, Benign Neonatal/genetics , Epilepsy, Benign Neonatal/pathology , Family Health , Female , Humans , Image Processing, Computer-Assisted , Magnetic Resonance Imaging , Male , Seizures/complications , Seizures/genetics , Seizures/pathologyABSTRACT
STUDY OBJECTIVES: To test the hypothesis that head position, separately from trunk position, is an additionally important factor for the occurrence of apnea in obstructive sleep apnea (OSA) patients. DESIGN: Prospective cohort study. SETTING: St. Lucas Andreas Hospital, Amsterdam, the Netherlands. PATIENTS AND PARTICIPANTS: Three hundred patients referred to our department because of clinically suspected OSA. INTERVENTIONS: N/A. MEASUREMENTS AND RESULTS: Patients underwent overnight polysomnography with 2 position sensors: one on the trunk, and one in the mid-forehead. Of the 300 subjects, 241 were diagnosed with OSA, based on an AHI > 5. Of these patients, 199 could be analyzed for position-dependent OSA based on head and trunk position sensors (AHI in supine position twice as high as AHI in non-supine positions): 41.2% of the cases were not position dependent, 52.3% were supine position dependent based on the trunk sensor, 6.5% were supine position dependent based on the head sensor alone. In 46.2% of the trunk supine position-dependent group, head position was of considerable influence on the AHI (AHI was > 5 higher when the head was also in supine position compared to when the head was turned to the side). CONCLUSIONS: The results of this study confirm our hypothesis that the occurrence of OSA may also be dependent on the position of the head. Therefore in patients with a suspicion of position-dependent OSA, sleep recording with dual position sensors placed on both trunk and head should be considered.
Subject(s)
Head , Posture , Sleep Apnea, Obstructive/diagnosis , Sleep Apnea, Obstructive/physiopathology , Torso , Apnea/diagnosis , Apnea/physiopathology , Cohort Studies , Female , Humans , Male , Middle Aged , Polysomnography/methods , Prospective Studies , Severity of Illness IndexABSTRACT
Reflex sympathetic dystrophy (RSD) is a syndrome dominated by sensory, autonomic, and motor features of the extremities. In this study, 10 severely affected RSD patients who progressed to multifocal or generalized tonic dystonia underwent H-reflex evaluation, needle electromyography (EMG), polysomnography, somatosensory evoked potentials, and transcranial magnetic stimulation. H-reflex evaluation revealed an impaired vibratory inhibition of the H-reflex and a higher facilitation peak in the recovery curve between 200 to 350 msec. Needle EMG revealed an impaired reciprocal inhibition, and many patients were unable to alter the amount of muscle activity voluntarily. Evaluations of the stretch reflex showed a markedly decreased threshold and abnormal responses to tonic and phasic changes. Polysomnography performed in five patients revealed no abnormal EMG activity during nonrapid eye movement and rapid eye movement sleep, but EEG arousal phenomena provoked abnormally high and brief bursts of surface EMG activity in all registered muscle groups. Somatosensory evoked potentials and transcranial magnetic stimulation were normal. Taken together, the findings in these patients with tonic dystonia of RSD are in accordance with an impairment of inhibitory interneuronal circuits at the level of the brainstem or spinal cord.
