Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0016719 (Friedreich's ataxia)
 2,098 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The evolution of 15 patients initially evaluated during Phase One of the Quebec Cooperative Study of Friedreich's ataxia has been studied approximately three years later. It is concluded that the deterioration of cardio-pulmonary function in Friedreich's ataxia is multifactorial. The neuromyopathy (or the underlying metabolic or cellular defect) appears to be the main contributing factor to the deterioration of cardio-pulmonary function, which is exacerbated by the scoliosis and varying severity of the cardiomyopathy.
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PMID:Evolution of cardio-pulmonary involvement in Friedreich's ataxia. 48 3

Friedreich's Ataxia (F.A.) is a degenerative disease which commonly leads to premature death of cardiorespiratory origin. To explain the early death of these patients, previous investigations have established the existence of 1) a cardiomyopathy in nearly 100% of cases, 2) a restrictive pulmonary syndrome of scoliotic origin and 3) a mild hypoxemia associated with slight respiratory alkalosis and a normal oxyhemoglobin dissociation curve. To further assess the cause of early death in patients with such neuromyopathy, we evaluated, in eleven F.A. patients, the sensitivity of the respiratory centers to hypercapnia, hypoxia, and hyperoxia. Ventilatory (VE, VT, F, VT/Ti) and occlusion pressure (P0.1) responses were taken as indices of the respiratory centers output during progressive hypercapnia (Read's method) and isocarbic hypoxia (Weil's method). We studied 11 Friedreich's Ataxia patients and 11 age, sex, and armspan matched controls. The responses of patients to hypercapnia were significantly greater than controls but their responses to hypoxia were similar to controls. Our study establishes that the respiratory centers are functioning adequately in early Friedreich's Ataxia and do not contribute to cardio-respiratory insufficiency in such neuromyopathy.
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PMID:Regulation of respiration in Friedreich's ataxia. 48 4

The hypothesis is that an abnormal oxygen-hemoglobin dissociation curve is a primary or a secondary defect in patients with Friedreich's ataxia was investigated in 12 subjects with this disease. Hemoglobin and P50 were measured and compared with age and sex matched controls. The mean hemoglobin concentration was 14.2 g% and the P50 was 26.25 torr for the patients and 13.8 g% and 26.27 torr in the controls. These results indicate that the oxygen transport system is normal in this disease and likely exclude an abnormal oxygen dissociation curve as a primary or a secondary factor in the pathophysiology of the cardiomyopathy and the neuromyopathy found in this disease.
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PMID:Oxygen transport in patients with Friedreich's ataxia. 64 3

Friedreich's ataxia is an inherited neuromuscular disorder often associated with significant cardiac disease. We report a case of Friedreich's ataxia in a 13-year-old girl with ulcerative colitis and hypertrophic cardiomyopathy who was successfully managed for subtotal colectomy with general anaesthesia and epidural narcotic. Anaesthetic considerations included the maintenance of fluid volume and stable cardiovascular variables in the intra- and postoperative periods.
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PMID:Anaesthesia for a patient with Friedreich's ataxia and cardiomyopathy. 291 41

Friedreich ataxia (FRA) is an autosomal recessive neuromuscular disorder in which nearly all affected homozygotes eventually develop significant cardiomyopathy and a substantial proportion also develop diabetes mellitus. Diabetes and early heart disease have been observed previously in close blood relatives of FRA patients. To test the hypothesis that FRA heterozygotes may have elevated rates of heart disease mortality and diabetes incidence, we compared the rates of these conditions in 1,191 adult blood relatives to those in 745 nonblood relative spouse controls in 27 families of FRA patients. We found no evidence for an excess of diabetes in the blood relatives. For three broad categories of circulatory disease mortality, the FRA blood relatives had significantly higher rates than the spouse controls. However, when each relative's prior probability of heterozygosity for the FRA gene was taken into account, the resulting estimates of relative risk of dying from circulatory disease for FRA heterozygotes compared to nonheterozygotes were not significantly elevated. Since the latter analysis provides the best test of the hypothesis, our data did not strongly support the hypothesis that FRA heterozygotes are at increased risk of cardiac death.
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PMID:Circulatory disease mortality and diabetes incidence in 27 families with Friedreich ataxia. 320 55

The preliminary results based on a three year retrospective study in cavus foot deformity of forty-four Friedreich ataxia patients regularly seen at the Neuromuscular Disease Clinic of Sainte-Justine Hospital have been presented. An accurate "weight-bearing" foot stereoradiographic technique has been recently developed by our group. Since the follow-up period with this device is not sufficient to provide statistical information, the conventional non-weight bearing technique has been utilized in this study to enable a possible comparison between the radiographs of ambulant and non-ambulant patients. Due to the present technique, the results of this study must be interpreted with caution. For 132 pairs of radiographs, 28 parameters have been analyzed. Four of these, namely the calcaneal inclination angle, the first metatarsal inclination angle, the inferior cortex of calcaneus-first metatarsal angle and the first-fifth metatarsals angle, were of particular interest. From these parameters, a preliminary quantitative description of cavus foot deformity in Friedreich's ataxia has been attempted. Three stages of evolution have been tentatively identified for this type of neurological disorder.
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PMID:Roentgenographic study of cavus foot deformity in Friedreich ataxia patients: preliminary report. 710 76

We compared 19 patients with Friedreich's ataxia, a progressive hereditary neuromuscular disorder, with 19 healthy age-matched subjects. During nighttime, patients had shorter mean RR and decreased heart rate variability parameters related to parasympathetic activity than healthy subjects, whereas no difference occurred during daytime.
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PMID:Parasympathetic activity in Friedrich's ataxia. 885 99

Friedreich's ataxia is an inherited neuromuscular disorder often associated with significant cardiac disease and requiring special care during anaesthesia because of increased sensitivity to muscle relaxants. We report a 37 years old female patient with Friedreich's ataxia who underwent anaesthesia for total hip replacement because of degenerative hip arthritis. Anaesthesia was induced with alfentanil and propofol. Endotracheal intubation was achieved without the use of any muscle relaxants and muscle relaxants were avoided throughout the operation. Anaesthesia was maintained with propofol infusion and intermittent bolus doses of alfentanil. At the end of the procedure recovery from anaesthesia was fast and uneventful. When there is no absolute indication for neuromuscular blocking agents as its the case for many orthopaedic operations, avoiding these drugs would simply avoid many potential complications due to muscle relaxant use in this group of patients.
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PMID:Anaesthesia for Friedreich's ataxia. Case report. 1107 Sep 66

The maturation of iron-sulfur (Fe/S) proteins in eukaryotes has been intensively studied in yeast. Hardly anything is known so far about the process in higher eukaryotes, even though the high conservation of the yeast maturation components in most Eukarya suggests similar mechanisms. Here, we developed a cell culture model in which the RNA interference (RNAi) technology was used to deplete a potential component of Fe/S protein maturation, frataxin, in human HeLa cells. This protein is lowered in humans with the neuromuscular disorder Friedreich's ataxia (FRDA). Upon frataxin depletion by RNAi, the enzyme activities of the mitochondrial Fe/S proteins, aconitase and succinate dehydrogenase, were decreased, while the activities of non-Fe/S proteins remained constant. Moreover, Fe/S cluster association with the cytosolic iron-regulatory protein 1 was diminished. In contrast, no alterations in cellular iron uptake, iron content and heme formation were found, and no mitochondrial iron deposits were observed upon frataxin depletion. Hence, iron accumulation in FRDA mitochondria appears to be a late consequence of frataxin deficiency. These results demonstrate (i) that frataxin is a component of the human Fe/S cluster assembly machinery and (ii) that it plays a role in the maturation of both mitochondrial and cytosolic Fe/S proteins.
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PMID:Iron-sulfur protein maturation in human cells: evidence for a function of frataxin. 1550 95

Cardiac abnormalities occur in association with many of the neuromuscular disorders that present in childhood. Genetic defects involving the cytoskeleton, nuclear membrane, and mitochondrial function have all been described in patients with skeletal myopathy and cardiac involvement. The most common classes of neuromuscular disorders with cardiac manifestations are the muscular dystrophies- Duchenne, Becker, limb-girdle and Emery Dreifuss. Friedreich Ataxia and myotonic dystrophy also have important cardiac involvement. The type and extent of cardiac manifestations are specific to the type of neuromuscular disorder. The most common cardiac findings include dilated or hypertrophic cardiomyopathy, atrioventricular conduction defects, atrial fibrillation and ventricular arrhythmias. Screening for cardiac involvement should be performed in all children with neuromuscular disorders that have the potential for cardiac involvement. This review discusses the cardiac findings associated with specific neuromuscular disorders and outlines the indications for evaluation and treatment.
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PMID:Cardiac manifestations of neuromuscular disorders in children. 2011 90


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