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)

Acroasphyxia is not acrocyanosis and acrocyanosis is not acrorhigosis; this classification was drawn up in 1932 by Comel and his school. It involves persistent sensations of cold in the extremities, often with hypothermia but without cyanosis and without wetness. Young women often suffer from this complaint, classified clinically as sine materia but in fact accompanied if not caused by a slight decrease of the distal flow, by dystonia reactive to the exterior cold, and by acrothermic, poikilothermic behaviour. Digital pulp biopsy shows an abnormally high number of glomic anastomoses. Acrorhigosis may be explained by an atonic, hypertonic syndrome, by hyperactive block dispositives and by excessive anastomosisation. Treatment of acrorhigosis is possible.
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PMID:[Acrorhigosis]. 733 75

A 69-year-old woman suffering from Parkinson's disease for 22 years was admitted because of frequent occurrence of paroxysmal dyspnea for 3 months. Her dyspneic attacks consisting of inspiratory stridor and cyanosis occurred mainly during the wearing-off time and continued for less than 30 min. During nonictal period her respiration and phonation were normal and endoscopic investigation of the vocal cord and upper respiratory tract revealed no abnormality. Based on these findings, she was diagnosed to have focal laryngeal dystonia. The 24-hr monitoring with pulseoxymeter recorded frequent occurrence of paroxysmal asymptomatic hopoxemia during both daytime and sleep. With the treatment of tracheostomy and the reduction and alteration of anti-Parkinsonian drugs, dyspneic attacks disappeared gradually. We also confirmed the complete disappearance of paroxysmal asymptomatic hopoxemia with the 24-hr monitoring by pulseoxymeter, which is considered to be a useful method for early detection of asymptomatic focal laryngeal dystonia.
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PMID:[A case report of Parkinson's disease presenting with recurrent dyspneic attacks due to focal laryngeal dystonia]. 1288 31

A 79-year-old woman with a 4-year history of Parkinson's disease was admitted due to unique dyspneic attacks with cyanosis while eating. Dyspneic attacks with cyanosis occurred mainly during actions such as taking meals or rehabilitation. Due to increased tonus of the orbicularis oris muscle, she was unable to open her mouth and breathe out, and finally experienced hypoxemia as revealed by pulse oxymetry. Dystonic hypertonus was relieved by touching the mandible with the fingers, and she was able to open her mouth again. These symptom was compatible with the sensory trick. Based on these findings, we considered that dyspneic attacks were produced by focal oromandibular dystonia. Polysomnography also showed central sleep apnea. We report herein a rare case of Parkinson's disease presenting with respiratory insufficiency caused by focal dystonia and central sleep apnea.
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PMID:[Case of Parkinson's disease presenting with unique dyspneic attacks caused by oromandibular dystonia and sleep apnea syndrome]. 1801 15

Type II recessive hereditary methaemoglobinaemia (RHM) is a rare disease due to generalized NADH-cytochrome b5 reductase (cytb5r) deficiency. It results in mild cyanosis and severe neurological impairment. The clinical features and long-term outcome are poorly documented, and there are no systematic reviews. We examined six cases of type II RHM, four of which were new, together with 45 previously published cases, in order to establish the range of phenotypic expression. The clinical picture was very similar in most cases, with severe encephalopathy, microcephaly, generalized dystonia, movement disorders and mild cyanosis. The neurological prognosis was poor; in particular, none of the patients walked or spoke. In addition, the possibility of an atypical and milder phenotype was considered. We concluded that children with unexplained severe encephalopathy associated with generalized dystonia should be examined for cyanosis and have a methaemoglobinaemia assay performed. The diagnosis can be confirmed by very low cytb5r activity in both red and white blood cells. Here we report three novel mutations in the NADH-cytochrome b5 reductase gene. Prenatal diagnosis of this extremely severe disease should be proposed to affected families.
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PMID:Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum. 1820 4

Recessive congenital methemoglobinemia (RCM) is a very rare disorder caused by NADH- cytochrome b5 reductase (cytb5r) deficiency. It has been classified into four types. Type I presents with mild cyanosis due to a significant deficiency of cytb5r in erythrocytes only. In type II, the deficiency occurs in all tissues and causes growth and mental retardation and other neurological impairments. RCM types I and II are caused by a defect in a single gene, which is located on chromosome 22 (locus DIA 1: q 13.31-qter). Prenatal diagnosis is possible. Cyanosis can be well treated by 200-500 mg of ascorbic acid daily; there is no effective therapy for the progressive neurological impairments. This report presents two siblings with central cyanosis, growth retardation, mental retardation, microcephaly, dystonia and hypertonia diagnosed as RCM type II.
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PMID:A rare cause of mental motor retardation: recessive congenital methemoglobinemia type II. 1948 Mar 35

Many neurodegenerative diseases can be misdiagnosed as cerebral palsy. The correct diagnosis is reached when the condition recurs in families or when there are specific clinical signs. The clinical and imaging features of 3 children, from 2 unrelated families, presenting with global developmental delay and dystonia are described, in whom the presence of cyanosis and methemoglobinemia confirmed the diagnosis of recessive hereditary methemoglobinemia type 2. Magnetic resonance imaging showed significant cerebellar atrophy in 2 of the 3 babies. In dark-skinned children, this condition is underdiagnosed, as mild cyanosis is difficult to detect. Screening for methemoglobinemia in children with dystonia, microcephaly, and progressive cerebellar atrophy can be helpful in identifying more cases. As there is no curative treatment for this autosomal recessive condition, the exact diagnosis offers the best chance for prenatal screening, by detecting deficient NADH--cytochrome b5 reductase enzyme activity or by identifying the specific mutation in cultured amniotic fluid cells.
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PMID:Neurometabolic disorder with microcephaly, dystonia, and central cyanosis masquerading as cerebral palsy. 2441 60