myotonic dystrophy/hitasótt

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Intolerance to neuroleptics and susceptibility for malignant hyperthermia in a patient with proximal myotonic myopathy (PROMM) and schizophrenia.

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We report a patient with proximal myotonic myopathy who was treated with neuroleptics because of exacerbating schizophrenia. Under therapy with fluanxol, the patient developed muscle stiffness and oculogyric cramps. Treatment with both amisulpride and olanzapine lead to markedly elevated serum

[Oral dantrolene in a parturient with myotonic dystrophy and susceptibility to malignant hyperthermia].

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A 33 year old woman, with myotonia atrophica and a known susceptibility to malignant hyperthermia, presented during her second pregnancy with multiple episodes of hyperthermia. They were associated with a rapid rise in the serum creatine phosphokinase (CPK) level, and not with infection or a

[Malignant hyperthermia in subclinical myotonic dystrophy].

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[Anesthetic management for a patient of myotonic dystrophy with pheochromocytoma].

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We experienced an anesthetic management for a patient of myotonic dystrophy with pheochromocytoma. Much attention is required to manage myotonic dystrophy on surgical manipulation. This disease interacts with anesthetic drugs. It may cause prolongation of drug action used during anesthesia compared

Torsion of a non-gravid leiomyomatous uterus in a patient with myotonic dystrophy complaining of acute urinary retention: anaesthetic management for total abdominal hysterectomy.

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Torsion of a pregnant uterus is rare, but torsion of a non-pregnant uterus is extremely rare. Abdominal pain is the major symptom. Other symptoms include vaginal bleeding, urinary tract symptoms and gastro-intestinal manifestations. We present a case of a 37-year-old white nullipara who presented at

Encephalopathic attacks in a family co-segregating myotonic dystrophy type 1, an intermediate Charcot-Marie-Tooth neuropathy and early hearing loss.

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OBJECTIVE To report new disease components in a unique myotonic dystrophy type 1 (DM1) family previously described by us in which all affected members also had a sensorimotor neuropathy that co-segregated with markers flanking the DM1 locus. METHODS Clinical observations, electrophysiology,

[Anesthetic management of a child with congenital myotonic dystrophy and perioperative hypoxia].

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A 7-year-old boy with congenital myotonic dystrophy (MD) and developmental retardation underwent an emergency surgery for strangulation ileus. General anesthesia was maintained using sevoflurane and fentanyl. While intraoperative arterial blood pressure, pulse and rectal temperature remained stable,

Anesthesia for videolaparoscopic cholecystectomy in a patient with Steinert disease. Case report and review of the literature.

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OBJECTIVE Myotonic dystrophies are autosomal dominant neuromuscular diseases. Among them, myotonic dystrophy type 1 (MD1), or Steinert disease, is the most common in adults, and besides muscular involvement it also has important systemic manifestations. Myotonic dystrophy type 1 poses a challenge to

[Vecuronium in dystrophia myotonica (Curschmann-Steinert)].

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An emergency laparotomy was performed in a 31-year-old female (body wt 48 kg) with known myotonic dystrophy. Premedication with dantrolene (1 mg/kg i.v.) was used to prevent a myotonic response. Muscle relaxation was monitored electromyographically. Following induction with fentanyl (0.3 mg) and

[Combined spinal-epidural anesthesia for cesarean section in a parturient with myotonic dystrophy].

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Myotonic dystrophy (MD) is a muscle disorder characterized by progressive muscle wasting and weakness, and is the most common form of muscular dystrophy that begins in adulthood, often after pregnancy. MD might be related to occurrence of malignant hyperthermia. Therefore, the cesarean section is

The human ryanodine receptor gene: its mapping to 19q13.1, placement in a chromosome 19 linkage group, and exclusion as the gene causing myotonic dystrophy.

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The recent cloning of cDNA encoding the Ca++ release channel (ryanodine receptor) of human sarcoplasmic reticulum has enabled us to use somatic cell hybrids to localize the ryanodine receptor gene (RYR) to the proximal long arm of human chromosome 19. Studies with additional hybrids containing

Malignant hyperthermia and myotonic disorders.

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Advances in physiology and molecular genetics have promoted greater understanding of the various clinical manifestations of muscle disorders. For example, myotonia or profound weakness may be observed in sodium channel disease (e.g., paramyotonia congenita or hyperkalemic periodic paralysis),

Establishment of the mouse chromosome 7 region with homology to the myotonic dystrophy region of human chromosome 19q.

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A number of genetic markers, including ATP1A3, TGFB, CKMM, and PRKCG, define the genetic region on human chromosome 19 containing the myotonic dystrophy locus. These and a number of other DNA probes have been mapped to mouse chromosome 7 utilizing a mouse Mus domesticus/Mus spretus interspecific

[Steinert disease: abnormal onset or "casual" diagnosis?].

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The most frequent myopathy is "Steinert's disease" (also called myotonic dystrophy). We present a case of particular interest due to the way diagnosis was made. A 20-year-old male was transferred to our Department from another Hospital with a diagnosis of "acute liver disease". He presented with

Current concepts in malignant hyperthermia.

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Malignant hyperthermia (MH) is a rare, potentially lethal, clinically and genetically heterogeneous pharmacogenic myopathy, which during or after general anesthesia manifests as MH crisis (MHC) in genetically predisposed, but otherwise mostly normal, individuals (MH susceptibles) in response to

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