Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe the clinical features of parkinsonism in 25 patients whose age of onset was under 40 years. Among them, 17 patients, whose age of onset was after their 21st birthday, were classified as young onset Parkinson's disease (YOPD), and the remaining 8 whose age of onset was before their 21st birthday were classified as juvenile parkinsonism (JP). Rigidity and akinesia were revealed in all 25 patients. Resting tremor was observed in only 5 patients; 3 in the YOPD group and 2 in the JP group. There were 8 of the 25 patients (32%) who experienced an aching sensation in the leg before or at the onset of the parkinsonian features. In 6 of these 8 cases, the sensory symptoms were on the same side where the clinical manifestations of parkinsonism later developed. In the JP group, 2 patients had right foot dystonia, which improved with levodopa. Diurnal fluctuations in parkinsonian symptoms were found in 9 of the 25 cases. The familial incidence of parkinsonism was higher in the JP group. The parkinsonian disabilities in all 25 cases responded dramatically to levodopa therapy. Unfortunately, 10 cases, 5 in the YOPD group and 5 in the JP group, developed dyskinesia. The longer they took levodopa, the greater the chance of developing dyskinesia. The cumulative percentage of dyskinesia was 100% in the YOPD group and 83% in the JP group by the seventh and fourth year of treatment, respectively. A positive correlation was found between the prevalence of dyskinesia and the duration of treatment in both groups.
 ...
PMID:Early onset parkinsonism in Chinese. 168 78

We investigated the clinical features and progression of four patients with chronic manganese intoxication, 18 years after cessation of exposure. Because the results were to be compared with previous observations, we employed the same scoring system. The clinical manifestations were foot dystonia, wide based gait, rigidity, and difficulty in walking backwards. Resting tremor was rarely seen, but tongue tremor was found in 2 patients. The asymmetry initially present in 2 patients persisted 18 years later. Measurements had previously revealed rapid progression in the initial 10 years. We found a plateau over the following decade.
 ...
PMID:The natural history of neurological manganism over 18 years. 1705 46

Ataxia-telangiectasia is known for cerebellar degeneration, but clinical descriptions of abnormal tone, posture, and movements suggest involvement of the network between cerebellum and basal ganglia. We quantitatively assessed the nature of upper-limb movement disorders in ataxia-telangiectasia. We used a three-axis accelerometer to assess the natural history and severity of abnormal upper-limb movements in 80 ataxia-telangiectasia and 19 healthy subjects. Recordings were made during goal-directed movements of upper limb (kinetic task), while arms were outstretched (postural task), and at rest. Almost all ataxia-telangiectasia subjects (79/80) had abnormal involuntary movements, such as rhythmic oscillations (tremor), slow drifts (dystonia or athetosis), and isolated rapid movements (dystonic jerks or myoclonus). All patients with involuntary movements had both kinetic and postural tremor, while 48 (61%) also had resting tremor. The tremor was present in transient episodes lasting several seconds during two-minute recording sessions of all three conditions. Percent time during which episodic tremor was present was greater for postural and kinetic tasks compared to rest. Resting tremor had higher frequency but smaller amplitude than postural and kinetic tremor. Rapid non-rhythmic movements were minimal during rest, but were triggered during sustained arm postures and goal directed arm movements suggesting they are best considered a form of dystonic jerks or action myoclonus. Advancing age did not correlate with the severity of involuntary limb movements. Abnormal upper-limb movements in ataxia-telangiectasia feature classic cerebellar impairment, but also suggest involvement of the network between the cerebellum and basal ganglia.
 ...
PMID:Disorders of Upper Limb Movements in Ataxia-Telangiectasia. 2382 91

Tremor is the most common movement disorder characterized by a rhythmical, involuntary oscillatory movement of a body part. Since distinct diseases can cause similar tremor manifestations and vice-versa, it is challenging to make an accurate diagnosis. This applies particularly for tremor at rest. This entity was only rarely studied in the past, although a multitude of clinical studies on prevalence and clinical features of tremor in Parkinson's disease (PD), essential tremor and dystonia, have been carried out. Monosymptomatic rest tremor has been further separated from tremor-dominated PD. Rest tremor is also found in dystonic tremor, essential tremor with a rest component, Holmes tremor and a few even rarer conditions. Dopamine transporter imaging and several electrophysiological methods provide additional clues for tremor differential diagnosis. New evidence from neuroimaging and electrophysiological studies has broadened our knowledge on the pathophysiology of Parkinsonian and non-Parkinsonian tremor. Large cohort studies are warranted in future to explore the nature course and biological basis of tremor in common tremor related disorders.
 ...
PMID:Rest tremor revisited: Parkinson's disease and other disorders. 2863 97