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)

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

We report the anaesthetic management of vaginal delivery in a woman with Friedreich's ataxia, who had hypertrophic cardiomyopathy and had previously undergone thoracic spinal fusion with Harrington rod fixation. Combined spinal-epidural analgesia was used. Options for the anaesthetic management of labour and delivery are discussed.
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PMID:Anaesthetic management of vaginal delivery in a woman with Friedreich's ataxia complicated by cardiomyopathy and scoliosis. 1532 Dec 15

A 37-year-old man with advanced Friedreich's ataxia was referred to our emergency department with acute exacerbated abdominal pain of unclear aetiology. Laboratory tests showed slightly increased inflammatory parameters, elevated troponin and B-type natriuretic peptide, as well as minimal proteinuria. Transthoracic echocardiography revealed a pre-existing dilated cardiomyopathy. Abdominal sonography showed no pathological alterations. Owing to persistent pain under analgesia, a contrast-enhanced CT-abdomen was performed, which revealed a non-homogeneous perfusion deficit of the right kidney, although neither abdominal vascular alteration, cardiac thrombus, deep vein thrombosis nor a patent foramen ovale could be detected. Taking all clinical and radiological results into consideration, the current incident was diagnosed as a thromboembolic kidney infarction. As a consequence, lifelong oral anticoagulation was initiated.
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PMID:Kidney infarction in Friedreich's ataxia with dilated cardiomyopathy. 2303 61