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

Two young males in their thirties are reported with a clinical history and examination indistinguishable from typical females with the Rett syndrome. Both had normal early development. The first patient had a regression by the end of the second year. He was late in walking, had prominent hand-wringing from the age of 4 years, and non-progressive dystonia from the age of 14 years. He is still ambulatory. Seizures which started at the age of 18 months have been easily controlled. The second patient has had a severe seizure disorder since the age of 7 months. In his early teens, he lost ambulation and his height and weight fell below the 2nd percentile. He has severe foot dystonia without spasticity. Both patients have a normal head size and no evidence of atrophy on a CT scan of the brain. Both had kyphoscoliosis in their teens. It is difficult to evaluate the incidence of such cases. Little attention being paid to the normal early development, they hide behind vague diagnoses such as cerebral palsy, static encephalopathy, and behavior disorder. Dystonia is often confused with spasticity, the lack of paralysis is not appreciated, apraxia and hand wringing are assumed to be self-stimulatory behaviors.
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PMID:The Rett syndrome in males. 234 22

We describe two patients with juvenile-onset Niemann-Pick disease type C (NPC) to illustrate the variable neurologic features of this condition. One presented with hypersplenism at age 10 and was misdiagnosed with Gaucher disease. He developed complex partial seizures in his teens but remained otherwise neurologically asymptomatic until his mid 30s. At age 45, he had mild dementia and dysarthria, vertical supranuclear ophthalmoplegia, axonal sensorimotor polyneuropathy, and cerebellar ataxia. The second patient presented with rapidly progressive dystonia at age 8, and mild hepatosplenomegaly, vertical supranuclear ophthalmoplegia, severe behavioral disorder, and dementia by age 14. The diagnosis of NPC was based on deficient cholesterol esterification and excessive lysosomal filipin staining in cultured skin fibroblasts. Current notions about diagnosis and pathogenesis of NPC are reviewed.
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PMID:Niemann-Pick disease type C: two cases and an update. 1110 5

Nocturnal disturbances are common in Parkinson's disease (PD) patients, with almost 70% of these patients reporting nocturnal disturbances. The etiology of sleep disturbances in patients with PD is still controversial. They might be dependent on dopaminergic drugs, on disease progression, or on a combination of these two factors. Nocturnal disturbances can be categorized in four groups: 1) PD-related motor symptoms, including nocturnal akinesia, early-morning dystonia, painful cramps, tremor, and difficulty turning in bed; 2) treatment-related nocturnal disturbances; 3) psychiatric symptoms, including hallucinations, vivid dreams, depression, dementia, insomnia, psychosis, and panic attacks; 4) other sleep disorders, including insomnia, REM behavioral disorder (RBD), restless legs syndrome (RLS), periodic leg movements (PLMS), and excessive daytime sleepiness (EDS). Specific treatment options are supplied for every group. A global evaluation of nocturnal disturbances would provide clinicians with a valuable tool to establish an optimal regimen that could positively influence all nocturnal disturbance categories and thus improve PD management on. However, it is important to consider that management of some nocturnal disturbances in a group may worsen nocturnal symptoms of another group or may increase EDS. PD-related symptoms can be treated with long-acting DA agonists to obtain continuous DA receptor stimulation during the night. Both treatment-related nocturnal disturbances and psychiatric symptoms may be related to drug treatment, and therefore, in both cases, drug reduction or discontinuance should be considered. Some sleep disorders, such as RLS and PLMS, may be controlled by DA agents, and others, such as insomnia and EDS, may be improved by reducing dopaminergic stimulation.
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PMID:Treatment of nocturnal disturbances and excessive daytime sleepiness in Parkinson's disease. 1550 42

A large number of patients with Parkinson's disease (PD) experience nocturnal problems that impair their sleep quality. Among them, motor disorders such as tremor, rigidity, akinesia, akathisia, periodic leg movements, painful dystonia, dyskinesias, restless legs syndrome, and rapid eye movement sleep behavior disorder are common. This article reviews the clinical characteristics of some nocturnal motor problems that often induce sleep disruption in PD patients.
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PMID:Nocturnal problems occurring in Parkinson's disease. 1550 43

Sleep-disordered breathing and sleep-related motor phenomena are part of the clinical spectrum of multiple system atrophy (MSA). Stridor has been attributed to denervation of laryngeal muscles or instead to dystonic vocal cord motion. We studied 3 patients with nocturnal stridor in the setting of MSA. All patients underwent nocturnal videopolysomnography (VPSG) with breathing and heart rate, O(2) saturation and intra-esophageal pressure recordings, and simultaneous EMG recordings of the posterior cricoarytenoid, cricothyroid, and thyroarytenoid muscles and continuous vocal cord motion evaluation by means of fiberoptic laryngoscopy. VPSG/EMG and fiberoptic laryngoscopy documented normal vocal cord motion without denervation during wake and stridor only during sleep when hyperactivation of vocal cords adductors appeared in the absence of significant O(2) desaturation. All patients had tachycardia and tachypnea and paradoxical breathing during sleep, erratic intercostalis and diaphragmatic EMG activity and Rem sleep behavior disorder. One of the patients had restless legs syndrome with periodic limb movement during sleep and excessive fragmentary hypnic myoclonus. In conclusion, our patients with MSA had nocturnal stridor due to sleep-related laryngeal dystonia. Stridor was associated with other abnormal sleep-related respiratory and motor disorders, suggesting an impairment of homeostatic brainstem integration in MSA.
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PMID:Sleep-related stridor due to dystonic vocal cord motion and neurogenic tachypnea/tachycardia in multiple system atrophy. 1726 93

Sleep dysfunction is common among patients with Parkinson's disease and occurs in approximately two thirds of patients. The problems range from nocturnal issues such as difficulty with sleep initiation, sleep fragmentation, disturbance of circadian rhythm, and rapid eye movement sleep behavior disorder, to daytime problems such as excessive daytime sleepiness. Frequent nighttime awakening and sleep disruption are the most common sleep problems in Parkinson's disease. Dopamine plays an important role in maintaining wakefulness. To improve sleep in Parkinson's disease, it is important to achieve the critical balance of adequate dopaminergic therapy and control of symptoms. Increased dopaminergic agents can cause dyskinesias and painful dystonia, and undertreatment can cause nighttime akinesia, rigidity, and worse quality of sleep. Other nondopaminergic drugs commonly used in Parkinson's disease can also affect sleep. In patients with advanced Parkinson's disease, deep brain stimulation of the subthalamic nucleus has a favorable impact on sleep quality and sleep architecture.
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PMID:Sleep disorders associated with Parkinson's disease: role of dopamine, epidemiology, and clinical scales of assessment. 1832 61

This article summarizes what is currently known about sleep disturbances in several movement disorders including Parkinson disease, essential tremor, parkinsonism, dystonia, Huntington disease, myoclonus, and ataxias. There is an association between movement disorders and sleep. In some cases the prevalence of sleep disorders is much higher in patients with movement disorder, such as rapid eye movement sleep behavior disorder in Parkinson disease. In other cases, sleep difficulties worsen the involuntary movements. In many cases the medications used to treat patients with movement disorder disturb sleep or cause daytime sleepiness. The importance of discussing sleep issues in patients with movement disorders cannot be underestimated.
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PMID:Movement disorders and sleep. 2309 41