Subject(s)
Deep Brain Stimulation/methods , Dystonic Disorders/therapy , Globus Pallidus/physiology , Parkinsonian Disorders/therapy , Subthalamic Nucleus/physiology , Adult , Dystonic Disorders/diagnosis , Dystonic Disorders/physiopathology , Female , Humans , Male , Parkinsonian Disorders/diagnosis , Parkinsonian Disorders/physiopathologyABSTRACT
Speech disturbances are frequent and potentially disabling in patients with dystonia or chorea due to neurometabolic disorders (DCND), but their precise characteristics are poorly documented. We prospectively studied 29 consecutive patients with DCND. A detailed description of their speech patterns was obtained by using the Frenchay dysarthria assessment test and the apraxia of speech evaluation test of Wertz. Gross motor function and intelligibility were each scored on 5-point scales to identify a possible correlation between the severity of the speech and motor disorders. All the patients were found to have complex speech alterations with combined features of hyperkinetic dysarthria and speech apraxia. We also noted a correlation between the severity of the speech disorders and the motor disorders. These findings have important implications for speech rehabilitation, and may provide new insights into the pathophysiology of dystonia due to neurometabolic disorders.
Subject(s)
Brain Diseases, Metabolic/complications , Chorea/complications , Chorea/etiology , Dystonia/complications , Dystonia/etiology , Speech Disorders/etiology , Adolescent , Adult , Child , Child, Preschool , Family Health , Female , Humans , Male , Neurologic Examination/methods , Young AdultABSTRACT
Paroxysmal dysarthria-ataxia syndrome (PDA) is a rare neurological disorder that can be either primary or symptomatic of acute neurological dysfunction. Episodes of symptomatic PDA are poorly documented and there are no video reports. We describe the cases of two patients with symptomatic PDA related to demyelinating diseases. Detailed studies of the patients' speech disorders showed that the dysarthria and gait disorders were of the ataxic type in both cases. Both patients had midbrain lesions at or below the level of the red nucleus, confirming that this area is critically involved in PDA. The best clinical signs for distinguishing between symptomatic and primary PDA are adult onset and short (<1 min) episodes in the former. If these signs are present, brain MRI should be used to identify a cause of symptomatic PDA.
Subject(s)
Ataxia/physiopathology , Demyelinating Diseases/physiopathology , Dysarthria/physiopathology , Multiple Sclerosis/physiopathology , Adult , Anti-Inflammatory Agents, Non-Steroidal/therapeutic use , Anticonvulsants/therapeutic use , Ataxia/etiology , Ataxia/pathology , Carbamazepine/therapeutic use , Demyelinating Diseases/complications , Demyelinating Diseases/pathology , Diagnosis, Differential , Dysarthria/etiology , Dysarthria/pathology , Female , Gait Disorders, Neurologic/etiology , Gait Disorders, Neurologic/pathology , Gait Disorders, Neurologic/physiopathology , Humans , Male , Multiple Sclerosis/complications , Multiple Sclerosis/pathology , Speech Disorders/etiology , Speech Disorders/pathology , Speech Disorders/physiopathology , Treatment Outcome , Young AdultABSTRACT
Focal task-specific dystonia (FTSD) occurs exclusively during a specific activity that usually involves a highly skilled movement. Classical FTSD dystonias include writer's cramp and musician's dystonia. Few cases of sport-related dystonia have been reported. We describe the first four cases of FTSD related to table tennis (TT), two involving professional international competitors. We also systematically analyzed the literature for reports of sport-related dystonia including detailed clinical descriptions. We collected a total of 13 cases of sport-related dystonia, including our four TT players. Before onset, all the patients had trained for many years, for a large number of hours per week. Practice time had frequently increased significantly in the year preceding onset. As TT is characterized by highly skilled hand/forearm movements acquired through repetitive exercises, it may carry a higher risk of FTSD than other sports. Intensive training may result in maladaptive responses and overwhelm homeostatic mechanisms that regulate cortical plasticity in vulnerable individuals. Our findings support the importance of environmental risk factors in sport-related FTSD, as also suggested in classical FTSD, and have important implications for clinical practice.
Subject(s)
Athletic Injuries/complications , Dystonia/etiology , Occupational Diseases/complications , Adult , Aged , Female , Humans , Male , Middle Aged , Young AdultABSTRACT
Glutaric aciduria type 1 (GA1) is an autosomal recessive neurometabolic disorder due to glutaryl CoA dehydrogenase deficiency. Comprehensive descriptions of GA1-associated movement disorders are rare. In order to refine the description of the motor phenotype, we prospectively studied 16 consecutive pediatric and adult GA1 patients, focusing on the movement disorders and their time course. In most patients, generalized dystonia, superimposed on baseline axial hypotonia, remained the predominant feature throughout the disease course. With aging, it tended to evolve from mobile to fixed dystonia and to be associated with akinetic-rigid parkinsonism. Prominent orofacial involvement was a consistent feature in GA1 patients with movement disorders, resulting in speech disorders with features of combined hyperkinetic dysarthria and speech apraxia. The types and outcome of movement disorders in this setting should be taken into consideration during rehabilitation and for patient selection and evaluation in therapeutic trials.