1/14. CTG triplet repeat expansion in a laryngeal carcinoma from a patient with myotonic dystrophy.A 66-year-old Japanese man with myotonic dystrophy (DM) underwent total laryngectomy for laryngeal carcinoma. The size of the expanded dna fragment (EF) from the leukocytes and normal laryngeal tissues of this patient was only slightly longer than that in normal subjects. EF, however, was markedly longer in the laryngeal carcinoma. These findings support the hypothesis that elongation of the CTG repeat in the DM kinase gene occurs during acquired cell proliferation.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
2/14. "Shake hands"; diagnosing a floppy infant--myotonic dystrophy and the congenital subtype: a difficult perinatal diagnosis.myotonic dystrophy is a multi-organ disease inherited in a complicated way. Congenital myotonic dystrophy is a distinct entity with severe symptoms leading to a high rate of perinatal morbidity and mortality. The occurrence of congenital myotonic dystrophy often allows a subsequent diagnosis in the mother with important implications for her life, her further pregnancies and offspring. Genetic principles of anticipation and somatic mosaicism are involved and hamper the prenatal diagnostic possibilities. A family is presented in which maternal myotonic dystrophy and congenital myotonic dystrophy were diagnosed after the third pregnancy. The key features leading to the diagnosis were obstetric history, neonatal hypotonia and asphyxia, facial abnormalities in the mother together with the inability to bury eyelashes and delayed release of grip after shaking hands. The disorder is reviewed with respect to clinical symptoms, pathogenesis and genetics.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
3/14. Severe congenital myotonic dystrophy and severe anaemia of prematurity in an infant of Jehovah's Witness parents.Severe congenital myotonic dystrophy (CMD) is an autosomal dominant condition characterized by hypotonia and respiratory insufficiency at birth. Terminal outcome has been reported in infants requiring ventilation for longer than 30 days. The case is reported of an infant born at 34 weeks' gestation with severe CMD. infant survived following ventilatory support from birth until day 67 of life. Subcutaneous erythropoietin (600 units, three times weekly) was commenced on day 6 as the Jehovah's Witness parents were strongly opposed to blood transfusions. Haemoglobin fell to 5.8 g/dL without adverse effects and then progressively rose to 15.4 g/dL. No blood transfusions were necessary. This case illustrates that infants with severe CMD requiring ventilation for more than 30 days do not have a universally fatal outcome. Low haemoglobin was well tolerated which calls for re-examination of the indications for blood transfusions in ventilated neonates.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
4/14. sleep apnea and respiratory dysfunction in congenital myotonic dystrophy.A case of neonatal myotonic dystrophy (MD) is presented. A 35 week old 3570 g baby was born to a mother affected by MD and pregnancy-induced unstable diabetes. Soon after birth, he developed apnea, severe hypoglycemia, hypocalcemia, hypotonia and mild respiratory distress. His clinical course improved during the following days, but persistent episodes of desaturation and/or cyanosis did not subside; hypotonia was mild. A polysomnographic recording showed mixed central and obstructive apnea. dna testing showed trinucleotide repeat expansion mutations diagnostic of MD. The baby was discharged with home-sleep monitoring and breast-feeding. Recurrent apnea/bradycardia was the main clinical feature in this case of congenital MD, with increased risk of an acute life-threatening event.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
5/14. Posterior correction and fusion for severe cervical kyphosis in a patient with myotonic dystrophy: a case report.STUDY DESIGN: A case report. OBJECTIVE: To report the first myotonic dystrophy case in which cervical kyphosis had been surgically corrected. SUMMARY OF BACKGROUND DATA: myotonic dystrophy is an autosomal dominant disease that shows myotonia, progressive muscle atrophy, and other various symptoms. Instability of the neck is expected to cause disorders of the cervical spine; however, there are no detailed reports on deformity of cervical spine associated with this disease. methods: A 43-year-old man with cervical kyphosis due to myotonic dystrophy had undergone an occiput-T2 fusion with autogenous iliac bone using spinal instrumentation. RESULTS: The activity of daily life of the patient had improved markedly, and the good results continued to be preserved for 5 years. There were not any major perioperative complications. CONCLUSIONS: Surgical correction of cervical spine is not necessarily a contraindication for myotonic dystrophy.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
6/14. myotonic dystrophy and pregnancy: a review.The previous reports of 20 women with myotonic dystrophy and pregnancy are reviewed, and a new case report added. myotonic dystrophy is often unrecognized in early life due to vague symptoms, and is often first diagnosed during pregnancy which is known to worsen the main features of muscular weakness and myotonia. Complications of pregnancy and delivery are frequent and serious and should be known to all those dealing with pregnant women. A history of fetal wastage or a child suffering from symptoms of congenital myotonic dystrophy may be a clue to the diagnosis and these patients should be closely followed until safe delivery. The neonatologist should be involved as feeding and respiratory problems in the neonate may indicate that the infant is affected.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
7/14. Retinal changes in myotonic dystrophy: a clinicomorphological study.This report appears to be the first ultrastructural study of the maculopathy and peripheral pigmentary retinopathy in myotonic dystrophy. Nine eyes from five patients observed during life are described. The findings were similar in all eyes, the retinal pigment epithelium in the macular region containing an accumulation of lipofuscin in large hyperpigmented cells. Pigment-laden profiles found in the subpigment epithelial space or subretinal space were interpreted as an attempt to discharge the pigment. Stress fibres of actin microfilaments were thrown into prominence by the irregularity of the pigment epithelium. In the periphery migration of retinal pigment cells into the retina occasionally resulted in the formation of bone corpuscles around occluded vessels, as occurs in retinitis pigmentosa; but more often the clumps were coarser and surrounded basement membrane material. Central and peripheral epiretinal membranes were also observed.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
8/14. Smooth muscle involvement in congenital myotonic dystrophy.Dysfunction of smooth muscles is not unusual in adults suffering from myotonic dystrophy but has not yet been reported in patients with the congenital form of the disease. Of two brothers, the younger one presented with the typical features of congenital myotonic dystrophy at birth. He developed severe constipation due to megacolon during his second year of life. In the older brother disturbances of gastrointestinal motility, causing repeated bouts of subileus during the newborn period, sprue-like symptoms during early childhood, and megacolon with constipation and incontinence later on, remained the only manifestation of myotonic dystrophy until the age of eight years when the diagnosis could be finally established by electromyography.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
9/14. adult onset centronuclear myopathy with peripheral nerve involvement.A case of centronuclear myopathy is presented, showing a rapid course in a 47-year-old male. Clinical and muscular findings were consistent with the diagnosis of centronuclear myopathy. On nerve biopsy, there was evidence of a regenerative process. Electron microscopy showed proliferation of schwann cells with numerous Bungner's bands and other anomalies. This rare case with peripheral nerve changes may provide evidence to support the hypothesis of peripheral nerve involvement in centronuclear myopathy.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
10/14. cataract and myotonic dystrophy: the role of molecular diagnosis.myotonic dystrophy (dystrophia myotonica), the commonest and most variable of the muscular dystrophies of adult life, has long been known to be associated with cataract, while slit-lamp examination for specific lens opacities has been one of the principal methods of presymptomatic detection of gene carriers. The recent discovery that the myotonic dystrophy mutation is an unstable dna sequence, composed of varying numbers of CTG triplet repeats, now allows a specific molecular test for this disorder, as well as explaining the phenomenon of anticipation. A series of case reports is presented to illustrate the important practical applications of this development in relation to ophthalmic aspects of the disorder. Reassessment of the specificity of the ophthalmic changes may be required and it will be important for molecular analysis to be used alongside ophthalmic studies, when determining whether family members carry the mutation for myotonic dystrophy.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
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