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)

Genetic cardiac dysrhythmias, although rare in pediatrics, may be often the first manifestation of the main disease or may determine the vital prognosis in some of these diseases (e. g. Friedreich's ataxia and Duchenne's progressive muscular dystrophy). This is more so, as at present, technical possibilities of implanting pacemakers, at ever smaller ages, are ever so great. The first part of the paper deals with these aspects, reviews, and analyses a large variety of genotypic diseases (metabolism genetic diseases, cardio-skeletal syndromes, neuromuscular diseases, cardio-auditory syndromes, etc.) and also a series of tachydysrhythmias or isolated familial conduction disturbances (blocks). Within each entity, the authors describe the main elements allowing the diagnosis, with special references on the rhythm and cardiac conduction disturbances that may appear, and with the necessary therapeutical considerations. The second part of the material presented is devoted to the cardiac dysrhythmias following the surgical intervention on heart, frequently used at present in the congenital heart diseases, at ever smaller ages due to the special progress in anesthesia and intensive care techniques. Correlation of various types of surgeries with the anatomical lesions of the excitation-conduction system they can involve, makes easier the understanding of the nature and appearance risks of some postsurgical rhythm and cardiac conduction disturbances. The distinction is made between early postsurgical dysrhythmias--that are often episodic--and tardy dysrhythmias that may relapse or become chronic, thus raising difficult treatment problems and sometimes require a secondary pacemaker implantation, given the major handicap they represent for the child.
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PMID:[Genetic cardiac dysrhythmias and the sequelae of heart surgery in children]. 251 77

We describe the anaesthetic management of a 20 years old female with a Friedreich's ataxia for curettage of the uterus. After the premedication with thalamonal, diazepam and atropine the anaesthesia was induced with thiopental. Isoflurane and nitrous oxide were used for maintenance. We review the literature about this disease and its implications in anaesthesia. Anesthetic hazards to the patient with Friedreich's ataxia include potential risk of cardiac dysrhythmias and heart failure and also marked sensitivity to muscle relaxants. Respiratory complications and diabetes mellitus are other main problems in postoperative period. We conclude that this patients should be careful monitored specially cardiovascular function and neuromuscular transmission during and after anaesthesia.
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PMID:[Anesthetic management in a case of Friedreich's ataxia]. 268 72

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's ataxia (FA), a hereditary disease with degenerative changes localized chiefly in the spinal cord and cerebellum, is characterized clinically by ataxia, absence of tendon reflexes, loss of proprioceptive sensation, and extensor plantar responses. There are only a few reports on anesthesia for patients with FA. General but not regional anesthesia is usually recommended because a persistent aggravation of symptoms is feared with regional anesthesia. We report a 31-year-old gravida 1 para 0 patient with FA who was admitted at the 20th week of gestation for induced abortion, curettage and tubal ligation. Familial FA was diagnosed at the age of 15, and since the age of 23 the patient had been confined to a wheelchair. As she strictly declined general anesthesia, epidural analgesia with 0.125% bupivacaine and morphine was used for 14 h, during which period induced abortion by prostaglandin was performed. This was followed by epidural anesthesia with 2% lidocaine for curettage and laparoscopic tubal ligation. A reduced dosage of local anesthetics, as commonly recommended during pregnancy, was used. Neurological consultation before and 1 day, 6 weeks, and 7 months after operation revealed no undue exacerbation of symptoms. Our case report suggests that epidural anesthesia can safely be administered to a patient with FA.
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PMID:[Epidural anesthesia in a patient with Friedreich's ataxia]. 340 69

A patient with Friedreich's ataxia was anaesthetised on two occasions. The neuromuscular blocking agent was atracurium 0.5 mg/kg on the first occasion and tubocurarine 0.5 mg/kg on the second. The effect of each was monitored using the train-of-four twitch technique. Friedreich's ataxia has been reported to cause a marked sensitivity to non-depolarising muscle relaxants and hyperkalaemia, with resulting cardiac dysrhythmias after suxamethonium. This patient did not demonstrate an abnormal response to either relaxant; the operating conditions were satisfactory and recovery was not delayed. These drugs may be safely used in this condition provided that monitoring is adequate.
Anaesthesia 1986 Mar
PMID:Anaesthesia for Friedreich's ataxia. Case report and review of the literature. 375 93

Friedreich's disease is a very rare neurological disorder that causes degeneration of the posterior roots of the spinal nerves and progresses to the anterior roots, even in young adults. Hospital emergency teams face the question of choice of anaesthesia in such patients should general anaesthesia be preferred to regional anaesthesia. We report a 36-year-old patient with spinocerebellar heredoataxia (Friedreich's disease) who underwent a proctological procedure after administration of spinal anaesthesia with 3 mg hyperbaric bupivacaine in a sitting position. Both the intra- and post-operative courses were unremarkable; in particular, with regard to the underlying neurological disease, no complications were observed.
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PMID:[Spinal anesthesia (saddle block) in Friedreich's diseases]. 766 34

Friedreich's ataxia is an inherited disorder of the nervous system, requiring special care during anaesthesia, because of increased sensitivity to muscle relaxants. We report a case of Friedreich's ataxia in a 31-year-old woman, anaesthetised on two occasions, for tendinoplasty and pes cavus repair. Atracurium was used for neuromuscular blockade and monitored by a train-of-four twitch technique. The patient's response was normal. She returned to adequate spontaneous breathing within 20 min of the last dose of the muscle relaxant without need for anticholinesterase administration. When neuromuscular function is monitored, normal doses of muscle relaxant can safely be used in these patients.
Anaesthesia 1998 Feb
PMID:Requirements for muscle relaxation in Friedreich's ataxia. 953 43

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

Friedreich's ataxia is a rare hereditary neurodegenerative disease caused by a defect in the gene that encodes a mitochondrial protein called frataxin. We report the use of rocuronium 0.6 mg kg(-1) in two adolescent girls with Friedreich's ataxia undergoing propofol-sufentanil-oxygen-air anaesthesia for spinal surgery. Neuromuscular transmission was monitored using acceleromyography, and onset and recovery times were recorded. The clinical duration of rocuronium was comparable to that of children without neuromuscular disease (25% recovery T(1)=44 and 24 min for patients 1 and 2 respectively).
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PMID:Rocuronium for muscle relaxation in two children with Friedreich's ataxia. 1497 2

Friedreich's ataxia (FA) is a hereditary disease, which leads to degenerative changes in the spinal cord and cerebellum (incidence 1:50,000). These changes are caused by a defect in the gene that encodes a mitochondrial gene called frataxin and causes muscle weakness, scoliosis, cardiomyopathy and impaired glucose tolerance. Therefore, these patients require special care during anaesthesia. We report the case of a 25-year-old primigravida with a history of FA and dorsal stabilisation of the vertebral column, who was admitted to our hospital for elective caesarean section. Due to increased sensitivity to muscle relaxants, peridural anaesthesia with 8 ml 0.75% ropivacaine and 10 microg sufentanil was used in this case. The perioperative neurological consultation revealed no undue exacerbation of symptoms.
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PMID:[Peridural anaesthesia with ropivacaine for a patient with Friedrich's ataxia. Caesarean section after dorsal stabilisation of the spinal column (Th5-L1)]. 1957 67


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