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)

Alternating hemiplegia in childhood (Verret, 1971) is a disorder presenting with frequent episodes of alternating hemiplegia from early infancy. We report a patient with this disorder, along with a pathophysiological study and a discussion about the available therapies for this disorder. The patient, an 11-year-old boy, visited our hospital with episodes of alternating hemiplegia from early infancy. His family history showed that many members suffered from migraine. He was born with asphyxia. Mental and motor developmental delays were seen from early infancy. The hemiplegic episodes with ipsilateral facial palsy had occurred frequently from early infancy. The episodes were frequently induced by emotional stress. The duration of hemiplegia varied from 10 minutes to 3 days. From the age of 11 years, he had begun to have migrainous attacks with or without hemiplegic episodes. Neurological examination revealed slight muscle hypotonia, choreoathetosis and dystonic movements induced by locomotion, positive Myerson sign, increased deep tendon reflexes and Babinski reflex. CAG, VAG and CAT revealed normal findings. EEG revealed diffuse generalized slowing during hemiplegic episodes. Measurement of regional cerebral blood flow (CBF) by 133Xe inhalation method revealed a slight decrease of bilateral CBF during a quadriplegic episode. Positron emission tomography using C15O2 revealed a slight decrease of CBF at the insula, putamen and claustrum of the left side during a right sided episode. Increased excretion of urinary 5-HIAA was seen during one episode. From our clinical and laboratory findings, we think this disorder may be a special type of migraine. Therapeutic trials of diazepam and flunarizine were both effective, but the initial effectiveness was decreased after 5 months.
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PMID:[A patient with alternating hemiplegia in childhood]. 273 28

A 10-year-old boy developed progressive dystonia and dementia. His symptoms had begun at age 2 1/2 years, and he had been unable to walk by 8 years. At age 10 he was severely dystonic, unable to use his hands to feed himself, and almost anarthric . He had dysphagia and urinary incontinence, and functioned at a 4-year-old level of mental development. The mean percentages of beta-hexosaminidase A measured in serum, leukocytes, and fibroblasts by the heat denaturation method, each on three separate assays, were 5.9, 9.8, and 13.0%, respectively. These values are higher than in Tay-Sachs disease but are similar to levels seen in late-onset or adult cases of GM2 gangliosidosis. This patient appears to represent a new phenotype of juvenile GM2 gangliosidosis having dystonia as the dominant symptom.
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PMID:Juvenile progressive dystonia: a new phenotype of GM2 gangliosidosis. 643 Feb 10

Lubag is an x-linked recessive dystonia parkinsonism that affects Filipino men originating principally from the Panay Island. Linkage analysis has confirmed the mode of inheritance and localized the disease gene to the proximal long arm of the x-chromosome. We studied the brain of a 34 year old Filipino man affected with lubag. He developed truncal dystonia at age 30, which subsequently generalized. With disease progression, he also presented with parkinsonism including, rigidity, bradykinesia, and impaired balance. His symptoms were largely unaffected by medication and, at age 34, he underwent a right cryothalamotomy. He died suddenly 2 days after the procedure. The principal neuropathological findings were neuronal loss and a multifocal mosaic pattern of astrocytosis restricted to the caudate and lateral putamen. Similar findings have been reported in two other men with dystonia--one Filipino and the other non-Filipino. The similar pathology of the two Filipino men suggests that this is the pathology of lubag. Recognition of this pathology in a non-Filipino man suggests that the mutation causing lubag may not be restricted to the Filipino population.
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PMID:Neuropathology of lubag (x-linked dystonia parkinsonism). 834 10

The literature regarding parkinsonism of early-onset indicates that it encompasses several diseases differing in their clinical and pathological features. Since 1968 we have reported cases of early-onset parkinsonism with diurnal fluctuation of symptoms (abbrev. as EPDF). Attention has been focused on its similarities to or differences from Parkinson's disease (PD), juvenile parkinsonism of Yokochi, and hereditary progressive dystonia (HPD) of Segawa et al. In this paper we report the clinical and pathological characteristics of EPDF to facilitate its nosological identification. We examined the pathological features of EPDF in two cases. Case 1 was a 52-year-old female with consanguineously related parents and two other affected sisters. The disease began at the age of 20, and she had marked diurnal fluctuation of symptoms. With the assistance of L-dopa and bromocriptine, she was able to enjoy relatively satisfactory daily life activity until the age of 50. In the last two years she was bed-ridden with advanced parkinsonism. Case 2 was a 56-year-old man without any contributing family history. His disease started at age 26 and his symptoms showed slight fluctuation during the earlier stages of the disease. Treatment with L-dopa and bromocriptine was associated with marked up-and-down phenomenon and choreatic dyskinesia. Pathological study in the two cases revealed marked cell loss in the substantia nigra zona compacta, especially in the area A9, while the neuronal cell population of the ventral tegmental area (A10), locus caeruleus, superior raphae nucleus, and substantia innominata was relatively well preserved. There were no Lewy bodies.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Early-onset parkinsonism with diurnal fluctuation--clinical and pathological studies]. 836 54

Three siblings of a consanguineous parents with involuntary movements are reported. The mother had only a very slight neck tremor, without any other neurological abnormality, and the father had died. The 38-year-old son (Case 1) complained of involuntary movements at the age of 6. His involuntary movements were observed in the tongue, perioral region and upper and lower extremities: jerky movements with dystonic features. The 46-year-old elder brother (Case 2) experienced involuntary movements at the age of 18. Involuntary movements were observed in the upper extremities; he also had torticollis and tremulous movements in the neck, and jerky movements in the perioral region. They showed gait disturbance and dysarthria. The 35-year-old sister (Case 3) also experienced involuntary movements. When she was writing, her involuntary movements were obvious: dystonia and myoclonic jerks. Tremor in the neck was also seen. Their intelligence was below average. We concluded that this family had hereditary torsion dystonia, with myoclonus, and low intelligence. This condition may be associated with an autosomal recessive gene.
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PMID:Hereditary non-progressive torsion dystonia with intellectual disturbance. 858 May 54

A 28-year-old man with Wilson's disease developed neurological deterioration after a low-dose of d-penicillamine treatment for 2 weeks. He showed an akinetic rigid syndrome with generalized dystonia. Brain magnetic resonance images (MRI) on T2 and proton weighted images showed an increased signal intensity over the thalamus, basal ganglia and brainstem, especially the midbrain and pons. After treatment had been changed to zinc sulphate, the akinetic-rigid syndrome and dystonia were improved slowly in the following 4 years. Serial MRI studies showed a gradual resolution of the lesions. His current neurological status was almost normal except for dysarthria and mild intention tremor.
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PMID:Wilson's disease: resolution of MRI lesions following long-term oral zinc therapy. 874 Nov 47

A 49-year-old man reported several periods of acute paresis of different nerves after exposure to pressure. All palsies showed a good recovery over a period of days to months. The suspected diagnosis of a hereditary neuropathy with liability to pressure palsies was confirmed by the histology of a suralis nerve biopsy, which showed a distinct tomaculous swelling of the myelin. Nine years ago he noticed an acute, distally pronounced palsy of the right arm. A brachial plexus lesion was diagnosed. His profession required written work, thereby forcing him to compensate this weakness by increasing the coactivation of the elbow and upper arm. This coactivation persisted even after complete recovery from the plexus palsy. Thus, the patient showed the typical feature of classical writer's cramp, with broad coactivation of the arm muscles, which has continued to the present. At the same time, however, the patient was able to perform other motoric tasks well, such as painting. After several practice sessions with a special program that makes use of preserved motor abilities to reestablish writing, the patient was again able to write with a normal kinematic profile as documented by the recorded handwriting. This suggests that the "writer's cramp" of our patient is one form of task-related dystonia that may be related more to the perserveration of a misleading motor strategy than to a general inability of the motor system to control the movement properly.
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PMID:Persisting "writer's cramp" as a result of compensation of a temporary palsy due to a hereditary neuropathy with liability to pressure palsies. 886 1

We present a new Japanese family with hereditary progressive dystonia with marked diurnal fluctuation/dopa-responsive dystonia. The affected daughter and her asymptomatic father are heterozygous for a novel missense mutation that replaces His by Pro at codon 144 in the GTP cyclohydrolase I gene. Quantitative reverse transcription-polymerase chain reaction revealed a higher ratio of mutant/normal mRNA encoding GTP cyclohydrolase I in the patient. These results demonstrate the importance of mutant mRNA levels for phenotypic variability among cases with the same mutation.
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PMID:Mutant GTP cyclohydrolase I mRNA levels contribute to dopa-responsive dystonia onset. 895 22

Risperidone is an antipsychotic drug used for the treatment of schizophrenia. It was expected that this atypical neuroleptic agent would not cause dystonia or neuroleptic malignant syndrome (NMS) owing to its unique mechanism of action with attenuated anti-dopaminergic activity and more potent antiserotoninergic activity. We report the case of a geriatric patient in whom signs and symptoms consistent with NMS developed after 3 weeks of risperidone therapy. The patient presented with fever, mental status changes, tremor, and rigidity. His laboratory findings were significant for increased serum creatine phosphokinase, hypernatremia, and metabolic acidosis. There have been few reported cases of risperidone-induced NMS. Health care providers should be aware of the risk of risperidone-induced NMS.
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PMID:Risperidone-induced neuroleptic malignant syndrome. 936 May 86

We present the case of a 51-year-old patient with a 31-year history of psychiatric symptoms, craniocervical dystonia, bulbar dysfunction, and parkinsonism. His dystonic movements included blepharospasm, jaw opening and lingual dystonia, and spasmodic retrocollis. Psychiatric symptoms included psychosis and depression, with onset years before the movement disorder. After his death by aspiration, examination of his brain revealed abnormalities limited to the neostriatum. Staining of brain sections, including Holzer, glial fibrillary acidic protein, and immunohistochemical stain for calbindin D28k, revealed the presence of a mosaic pattern of gliosis with neuronal loss (sparing large neurons) within this region. The islands of tissue between stands of gliosis had a normal appearance. This patient represents only the fourth case (and first North American born) with a mosaic pattern of gliosis in the neostriatum. The clinical and pathologic features were similar in all four cases except that our patient was the first with prominent psychiatric symptoms and a more stable, less progressive course. Mosaicism has been described in the X-linked Filipino disorder Lubag. Occurrence in non-Filipino patients, such as ours, suggest that either Lubag can develop in non-Filipino families or that mosaicism is a nonspecific pathologic finding in some patients with idiopathic dystonia. Finally, our case reports the notion that craniocervical dystonia may result from neostriatal dysfunction.
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PMID:Mosaic pattern of gliosis in the neostriatum of a North American man with craniocervical dystonia and parkinsonism. 938 67


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