Хуудас 1 -аас 33 үр дүн
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
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
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 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
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,
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,
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
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
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 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
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),
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
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
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