1/6. thymoma and myotonic dystrophy: successful treatment with chemotherapy and radiation: case report and review of the literature.We present the case of a 42-year-old woman with myotonic dystrophy and thymoma. She was treated with combination chemotherapy followed by external beam radiation, and remains in remission 19 months after thymoma was diagnosed. The myotonic dystrophy is unchanged. Only six cases of this nature have been reported in the literature, and this patient is the first to be successfully treated with combined modality therapy.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
2/6. Caesarean section for twins in a patient with myotonic dystrophy.The management of a patient with myotonic dystrophy undergoing Caesarean section for delivery of twins in breech position is reported. Anaesthetic management must reflect the multi-system nature of the disease in addition to the implications of pregnancy. Known triggers of myotonic crisis (succinylcholine, shivering) must be avoided. attention to respiratory reserve is necessary in view of the restrictive defect this disease can impose. Cardiomyopathy and conduction system disturbances may be features. Upper gastrointestinal incoordination can superimpose the added risk of aspiration on the pregnant myotonic. Ineffective uterine contraction can cause vigorous post partum haemorrhage. Endocrine disturbances, especially diabetes mellitis, may be present. There may be increased sensitivity to sedative and narcotic agents. The newborn myotonic will need the expertise of neonatal care.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
3/6. Cataracts in myotonic dystrophy.myotonic dystrophy is a unique form of muscular dystrophy which is associated with a variety of ocular manifestations. Perhaps the most noteworthy of these is the distinctive myotonic cataract which often appears early on in the course of the disorder. In this report, a seemingly healthy young man who presented for routine visual examination was found to have specific lenticular changes suggestive of myotonic dystrophy. Other signs of this condition, including the myotonic facies, restrictions of ocular motility, and the myotonic handshake, were not readily apparent. Although visual acuity was not dramatically impaired, the unusual nature of the lens opacities, and in particular the presence of brilliant polychromatic particles, called for a neurologic consultation which promptly confirmed the diagnosis.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
4/6. Hypothalamic hypogonadism in myotonic dystrophy.Hypothalamic-pituitary-ovarian axis function was assessed in a postpubertal female patient with myotonic dystrophy and secondary amenorrhea. The results suggested a hypothalamic basis for the amenorrhea, confirming previous reports regarding the nature of gonadal failure in women with this multisystemic disorder.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
5/6. myotonic dystrophy with alveolar hypoventilation and hypersomnia: a clinicopathological study.We present a case of myotonic dystrophy accompanied by alveolar hypoventilation and hypersomnia. Case history, pulmonary function tests, polygraphic recording, and multiple sleep latency test, concomitant with a restrictive ventilatory abnormality, suggested a central origin of alveolar hypoventilation and hypersomnia in our case. The most significant neuropathological findings were in the tegmentum of the brain stem. Severe neuronal loss and gliosis were observed in the midbrain and pontine raphe, particularly in dorsal raphe nucleus and superior central nucleus. Pontine and medullary reticular formation also showed a marked cell loss and fibrillary gliosis. The alveolar hypoventilation and the hypersomnia in our case may be attributed to these morphological abnormalities, and would appear to be central in nature.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
6/6. Direct diagnosis of myotonic dystrophy with a disease-specific dna marker.BACKGROUND. myotonic dystrophy is the most common inherited form of muscular dystrophy affecting adults. Its symptoms are not confined to muscle, and variability in their nature and in the patient's age at their onset can make diagnosis difficult. A specific unstable dna sequence associated with myotonic dystrophy has recently been identified. We describe the use of a dna probe (p5B1.4) that can detect this mutation directly, improving the accuracy and speed of diagnosis. methods. We analyzed dna extracted from the peripheral-blood lymphocytes of 112 unrelated patients with myotonic dystrophy and their families, using molecular genetic techniques. Southern blot analysis and amplification with the polymerase chain reaction were used to determine the extent of expansion of the unstable dna sequence. RESULTS. Probe p5B1.4 allowed direct identification of the myotonic dystrophy mutation in 108 of the 112 unrelated patients. In three families for whom the clinical and genetic data obtained with linked probes were ambiguous, the probe identified persons at risk for symptoms of this disorder and demonstrated that a possible sporadic case of myotonic dystrophy was familial. In one of these families the size of the unstable myotonic dystrophy-specific fragment decreased on transmission to offspring, who remained asymptomatic. CONCLUSIONS. The diagnosis of myotonic dystrophy is improved by the use of a probe that detects directly the mutation responsible for this disorder.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |