1/57. An autopsy case of myotonic dystrophy with mental disorders and various neuropathologic features.An autopsy case of myotonic dystrophy (MD) is reported. The patient was a 58-year-old male. He presented with muscular weakness and muscular atrophy at the age of 33 and was diagnosed as having MD from myotonic symptoms (i.e. percussion and grip myotonia) at 49 years old. mental disorders including a delusional hallucinatory state, mental slowness, indifference, and lack of spontaneity as well as visual cognitive impairments were noted at the age of 55. He showed Parkinsonism and died of septic shock. T2-weighted magnetic resonance imaging demonstrated diffuse cortical atrophy with a marked frontal atrophy and high-intensity signals in the white matter. Single photon emission computed tomography demonstrated hypoperfusion in the frontal cortex. Neuropathologic observation revealed neuronal loss in the superficial layer of the frontal and parietal cortices and extensive neuronal loss in the occipital cortex, intracytoplasmic inclusion body in the nerve cell of the medial thalamic nuclei, neuronal loss and presence of lewy bodies in the substantia nigra and locus ceruleus corresponding to the pathologic features of Parkinson's disease, as well as abnormalities of myelin in the white matter. The present case suggests that in MD brain, various neuropathologic changes may occur and they contribute to the mental disorders.- - - - - - - - - - ranking = 1keywords = myotonia (Clic here for more details about this article) |
2/57. Proximal myotonic myopathy (PROMM) presenting as myotonia during pregnancy.Proximal myotonic myopathy is a recently described autosomal dominant condition characterized by proximal myopathy, cataracts, intermittent myotonia, and myalgia. We report a further family with this condition. The proband and her two sisters presented with myotonia during pregnancy which resolved after each delivery. Two sisters experienced myalgia between each pregnancy. This relationship between pregnancy and symptom exacerbation suggests an intriguing hormonal influence in PROMM.- - - - - - - - - - ranking = 6keywords = myotonia (Clic here for more details about this article) |
3/57. Antenatal and preoperative genetic and clinical assessment in myotonic dystrophy.The antenatal investigation of an obstetric patient with a history of myotonia is described. The smooth and striated muscle dysfunction in myotonic dystrophy renders these patients, as a group, liable to surgical correction and exposure to anaesthesia. A caesarean section is reported to illustrate the preferred timing of diagnosis and peripartum management. While regional anaesthesia is preferred, myotonic dystrophy is not a contraindication to general anaesthesia, provided risks are anticipated and steps taken to minimize complications.- - - - - - - - - - ranking = 1keywords = myotonia (Clic here for more details about this article) |
4/57. The utility of the determination of CTG trinucleotide repeat length in hypotonic infants.A 9-month-old male infant was floppy from birth with nonprogressive facial and distal limb weakness and apparently normal mother and father. The facial characteristics and distribution of involvement suggested congenital myotonic dystrophy and the infant, but not the mother, had insertional myotonia in one of four muscles tested. Had the number of CTG trinucleotide repeats been tested when the presence of a congenital myotonic dystrophy-like clinical picture was first appreciated, the proper diagnosis could have been made several months earlier. The application of new molecular genetic techniques is changing the usual sequence of studies performed in the evaluation of the hypotonic infant.- - - - - - - - - - ranking = 1keywords = myotonia (Clic here for more details about this article) |
5/57. Proximal myotonic myopathy: clinical and molecular investigation of a Norwegian family with PROMM.Proximal myotonic myopathy (PROMM) was first described in 1994 as a multisystem disorder with similarity to myotonic dystrophy (DM), but without the abnormal (CTG)n expansion in the DM protein kinase (DMPK) gene. The inheritance is autosomal dominant and the clinical features include myotonia, proximal muscle weakness and cataract. Linkage analysis in nine German PROMM families has indicated the possibility of linkage to DM2 locus on chromosome 3. We report a Norwegian PROMM family in which the proband was clinically diagnosed as DM but without the (CTG)n expansion. Using an intragenic marker we showed that the DMPK gene did not segregate with the disease in this family. All family members are heterozygous for the R894X mutation in CLCN1 gene. Linkage analysis could not be performed, but haplotyping probably excludes the DM2 locus as the disease locus in this family. The present family emphasises that myalgia is a prominent symptom in PROMM and the clinical differences may be explained by genetic heterogeneity. This family will be reinvestigated along with the identification of candidate genes or regions in larger PROMM families.- - - - - - - - - - ranking = 1keywords = myotonia (Clic here for more details about this article) |
6/57. Successful catheter ablation against ventricular tachycardia associated with myotonic dystrophy.myotonic dystrophy (MD) is characterized by myotonia and muscular dystrophy and cardiac involvement with tachy-arrhythmia is rarely encountered. We report a case of MD complicated with severe left ventricular hypofunction and incessant ventricular tachycardia (VT) with varying heart rates. The morphology of VT suggested that it originated from the right ventricular outflow tract, and electrophysiological study disclosed that the mechanism of VT was abnormal automaticity. catheter ablation was performed to treat this VT. The patient had a cardiomyopathy with normal coronary arteries. The specimen of RV biopsy showed moderate hypertrophy, mild fat infiltration and slight fibrosis. These findings are histologically consistent with myotonic dystrophy.- - - - - - - - - - ranking = 1keywords = myotonia (Clic here for more details about this article) |
7/57. Congenital myotonic dystrophy: report of paternal transmission.A female neonate born to a healthy mother was hospitalized because of enlargement of the lateral ventricles, muscle weakness, irregular respiration, and poor sucking. Characteristic facial appearance such as high forehead and carp mouth were noted. The father had mild manifestations of adult type myotonic dystrophy, including muscle weakness of the extremities, percussion myotonia and atrophy of the facial muscles. PCR analysis and southern blot analysis revealed that CTG repeats in the myotonic dystrophy gene of the infant and the father were about 1000 and 400, respectively. This is a rare case showing paternally transmitted congenital myotonic dystrophy and seems to be the first report describing a neonate.- - - - - - - - - - ranking = 1keywords = myotonia (Clic here for more details about this article) |
8/57. Acute care pediatric electromyography.The recognition of uncommon pediatric motor unit disorders or unusual clinical presentations of common illnesses, such as guillain-barre syndrome (GBS), have increased the need for electromyography (EMG) in childhood critical care units. There are two different clinical sets, one appropriate to newborns and infants and the other to older children. Some illnesses that present as an acute floppy infant are not found in the differential diagnosis of motor unit disorders in the older child or adult. These include spinal muscular atrophy, postvaccine poliomyelitis, intrauterine GBS, infantile botulism, and severe myopathies, such as myotonia dystrophy, and some glycogen storage diseases. An appreciation of the neurophysiological maturational norms is essential to an effective pediatric EMG consultation for children ages 0-3 years. Additionally, the neuromuscular complications of extended intubation and sepsis in children are gaining broader recognition. An increased dialogue between clinical neurophysiologists and pediatric neurologists and intensivists in both neonatal and pediatric intensive care units is essential.- - - - - - - - - - ranking = 1keywords = myotonia (Clic here for more details about this article) |
9/57. Congenital myotonic dystrophy.Myotonic muscular dystrophy is the most frequent autosomal muscular dystrophy affecting adults and children. It affects multiple organ systems and is probably the best example of variable expressivity in a human disease. This article presents a patient with congenital myotonic dystrophy who had facial dysmorphism, hypotonia, talipes, feeding and respiratory difficulties in the neonatal period and later presented to us with developmental delay and had percussion myotonia. His mother had clinical and electrophysiological features of myotonia. Expansion of unstable CTG trinucleotide repeat in the myotonic protein kinase gene was demonstrated in both. The identification of this molecular defect allows its specific diagnosis in relation to other neuromuscular disorders as well as accurate prenatal diagnosis.- - - - - - - - - - ranking = 2keywords = myotonia (Clic here for more details about this article) |
10/57. Multiple thymoma with myotonic dystrophy.A case of multiple thymoma associated with myotonic dystrophy is reported. The patient was a 42-year-old man who had two separate encapsulated thymoma in the anterior mediastinum, at 3 cm in diameter on the right side, and at 4 cm in diameter on the left. Extended thymo-thymomectomy was performed. Microscopically, the tumor in the right thymic lobe was predominantly mixed type, and that in the left predominantly epithelial type. Neuromuscular disease appeared to develop, with severe sputum retention in the larynx and he was referred to neurology at 6 months after surgery. On examination, he presented a characteristic hatchet face, muscle atrophy, muscle weakness, percussion myotonia and grip myotonia, and diagnosis was revised to be multiple thymoma associated with myotonic dystrophy. This association is extremely rare. It is difficult to clarify whether this association was a syndrome or coincidence.- - - - - - - - - - ranking = 2keywords = myotonia (Clic here for more details about this article) |
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