1/12. Fine structural alterations of muscle fibers in diseases accompanied by myotonia.The authors have reported the results of examination by electron microscopy of two muscle biopsy specimens from cases of myotonia congenita and three cases of myotonia dystrophica. They have stated that "peripheral annular formation" was a frequently observed alteration in the myotonia congenita cases. In the myotonia dystrophica cases there were additionally disorganized myofibrils in the subsarcolemmal region and inclusion body vacuoles morphologically connected with the sarcolemma. The term "peripheral annular formation" refers to the situation in which the peripheral myofibrils of the muscle fiber fracture and the fragments retract and form a helical sheath around the central myofibrils of the same muscle fiber.- - - - - - - - - - ranking = 1keywords = body (Clic here for more details about this article) |
2/12. myotonia congenita in a brother and sister.myotonia congenita is a rare channelopathy and carries a good prognosis. Two cases of young siblings are presented detected with difficulty in gait and motor activities. Both had typical hypertrophied body musculature. EMG was diagnostic.- - - - - - - - - - ranking = 1keywords = body (Clic here for more details about this article) |
3/12. myotonia congenita, klinefelter syndrome and primary hypoparathyroidism: the first report of the unusual combination of three rare diseases in the literature.The first report of the rare combination of myotonia congenita, klinefelter syndrome and primary hypoparathyroidism was reported. The patient was a 21-year-old man who presented with stiffness of the muscles for 12 years and a history of generalised convulsion for 8 years. His school studies declined gradually and his secondary schooling was interrupted. Examination revealed a muscular young man with myotonic percussion over the muscles of the body as well as the myotonic lid lag. Chvostek's sign was positive and his serum calcium level was very low whereas the serum phosphate was high. Symmetrical and extensive calcification of the brain parenchyma was demonstrated in the CT scan. His secondary sexual characteristics were not well developed and his testes were very small. Chromosome study confirmed the diagnosis of klinefelter syndrome by the identification of 47 XXY chromosome. He was prescribed calcium replacement and the anticonvulsant was withheld with no more episodes of seizure.- - - - - - - - - - ranking = 1keywords = body (Clic here for more details about this article) |
4/12. myotonia congenita (Thomsen's disease) report of five cases in a family.This report describes 5 out of 8 siblings who were the first cases of myotonia congenita diagnosed in our department. The parents were first cousins. Neither the parents, nor the other family members have myotonia. The affected siblings 4 boys and 1 girl, all showed a very typical myotonia especially after prolonged rest, and it could be worked off with continuing activity. They had a muscular looking body or a herculean proportion. The diagnosis were based upon family history, clinical findings of percussion myotonia, had grip myotania, prominent muscular hypertrophy and confirmed by electromyographic examination revealing myotonic discharges. Since there were some functional impairments, these patients were treated with diphenylhydantoin and then with quinine sulphate, with good results. The patients related parents were much likely to be heterozygous for the same harmful recessive genes, because they had common ancestor. The role of marriage counseling is important in this kind of inherited disease, to prevent the occurrence of this inherited disorder in the next generations.- - - - - - - - - - ranking = 1keywords = body (Clic here for more details about this article) |
5/12. Paramyotonia congenita: successful treatment with tocainide. Clinical and electrophysiologic findings in seven patients.Seven patients with paramyotonia congenita (PC) from two families were studied. Voluntary exercise of the hand muscles was performed at different hand temperatures, both before and after treatment with tocainide. All patients developed stiffness, prolonged weakness, and small compound muscle action potentials (CMAPs) following exercise; the temperature at which this occurred was individually different. Two patients with PC and associated episodes of generalized weakness underwent potassium loading. A prolonged exercise test was performed both immediately before and 90 minutes after K-loading. Exercise-induced weakness and CMAP-decline occurred only with high serum K levels. Thiazide treatment in these two patients was ineffective. All seven patients responded well to tocainide. Treatment response and side effects were dose-dependent. Good clinical improvement has been maintained in all patients for more than 6 months, with relatively small doses of tocainide (400-1200 mg/day).- - - - - - - - - - ranking = 25344.413037425keywords = temperature (Clic here for more details about this article) |
6/12. mutation in the S4 segment of the adult skeletal sodium channel gene in an Italian paramyotonia congenita (PC) family.The periodic paralyses are a group of autosomal dominant muscle diseases sharing the common feature of episodic stiffness and weakness, usually occurring with muscle cooling (as in the case of paramyotonia congenita, PC phenotype) or changes in extracellular K levels resulting from various precipitating factors (hyperkalemic periodic paralysis, HYPP and hypokalemic periodic paralysis, HypoPP). It is now known that HYPP maps to chromosome 17q, and that PC and a form of myotonia congenita without periodic paralysis also map to the 17q locus, thus indicating that they derive from allelic variants. So far, these disorders have been described in various ethnic groups but, to our knowledge, have never been reported in italy. We describe a mutation in an S4 segment of the adult skeletal muscle sodium channel in a clinically-defined Italian family that leads to the paramyotonia congenita (PC) phenotype with dominant autosomal inheritance and temperature-related symptoms (regional weakness following cooling and exercise), present since childhood in all of the affected family members.- - - - - - - - - - ranking = 12672.206518712keywords = temperature (Clic here for more details about this article) |
7/12. Paramyotonia congenita without cold paralysis: a case report.A 27-year-old-woman with paramyotonia congenita was reported. She began to suffer from myotonia since infancy. Myotonia was aggravated by cold, but with intense cooling myotonia did not change to flaccid paralysis. Four generations of her family showed the same symptoms that suggested autosomal dominant inheritance. Neurological examinations revealed no impairments of mental function, cranial nerves and sensory system. muscular atrophy or hypertrophy was not observed. percussion myotonia of the tongue and thenar muscles could be elicited at room temperature. Myotonia was aggravated by cold. An oral intake of potassium chloride (7 grammes) did not provoke any muscle weakness or flaccid paralysis. Routine laboratory data and findings of head CT scan, cerebrospinal fluid and electroencephalogram were normal. The nosological distinction between paramyotonia congenita and hyperkalemic periodic paralysis has been debated since 1956. Paralysis induced by cold is thought to be a feature of paramyotonia congenita, thus raising a possible relationships to hyperkalemic periodic paralysis. In our case cold paralysis never occurred spontaneously and could not be provoked by immersion in ice water or by potassium loading. This finding confirms the existence of paramyotonia congenita without cold paralysis and may provide a nosological distinction between paramyotonia congenita and hyperkalemic periodic paralysis.- - - - - - - - - - ranking = 12672.206518712keywords = temperature (Clic here for more details about this article) |
8/12. Paramyotonia congenita (Eulenburg): clinical, neurophysiological and muscle biopsy observations in a Swedish family.A Swedish family with Paramyotonia congenita (Eulenburg) (PMC) is presented. Clinical neurological examination, neurophysiological examination (n = 5) and muscle biopsy (n = 4) were performed. Different clinical features were found in various combinations in the individual family members. The clinical symptoms were: (1) cold-induced myotonia, (2) attacks of weakness, (3) persistent weakness and (4) no symptoms but other signs of muscle affection. In the patients with myotonia, the neurophysiological examination showed spontaneous myotonic discharges which were frequent at room temperature but disappeared after cooling. Furthermore, the amplitude of M. abductor digiti minimi compound action potential, during supramaximal ulnar nerve stimulation, decreased significantly after cooling. In the patients with persistent weakness there were no spontaneous myotonic discharges, but myopathic abnormalities were found in proximal muscle. In the patients with myotonia as well as in the patients with manifest muscle weakness, muscle biopsy showed a variation of muscle fibre diameters, centrally located nuclei, occasional atrophic fibers and an atrophy of type IIB muscle fibres. These findings are unspecific but have been described in PMC patients in earlier studies. An ancestor to the family, who had myotonia, lived in the same town and at the same time as Albert Eulenburg, which may suggest that this family is a part of the originally described family (1).- - - - - - - - - - ranking = 12672.206518712keywords = temperature (Clic here for more details about this article) |
9/12. Paramyotonia congenita. A clinical, electrophysiological and histological study of 12 patients.The present paper describes the clinical, electrophysiological and histological findings made in 12 patients belonging to 2 genealogical lineages in switzerland, suffering from paramyotonia congenita. This is the first report of this disease in switzerland. The myopathy, transmitted by autosomal dominant inheritance, is characterized by a typical past medical history and by the persistent contraction of the muscles of the face, arms and legs provoked by exposure to cold. Also of diagnostic importance are the myotonic reactions inducible at room temperature, such as percussion myotonia, active myotonia and paradoxical myotonia. During paramyotonic episodes provoked by exposure of the subjects in a refrigeration chamber, serum potassium concentrations remained within normal limits. Potassium loading producing serum levels above 6 mEq/1 in 2 patients gave rise to stiffness and weakness of the arms and legs, but no signs of paralysis. Induced hypokalemia in 3 cases caused no paramyotonic symptoms. Electromyographic recordings in 5 patients showed myotonic discharges, which disappeared upon cooling of the limb, giving way to progressive muscular stiffness. Histological, histochemical and electronmicroscopical examination of the muscle tissue revealed only diagnostically unspecific myopathological changes.- - - - - - - - - - ranking = 12672.206518712keywords = temperature (Clic here for more details about this article) |
10/12. temperature-sensitive repetitive discharges in paramyotonia congenita.A 47-year-old female with paramyotonia congenita was studied with electromyography and showed minimal myotonic discharges but prominent repetitive discharges in hand muscles at room temperature. With cooling the hand, the repetitive discharges ceased as the myotonic potentials became prominent. With exercise and further cooling, the myotonic discharges increased and the strength of the muscle and recruitment pattern decreased. With warming, the myotonic discharges decreased as the repetitive discharges reappeared. This is the first report of repetitive discharges occurring in a patient with temperature-sensitive sodium channel myotonia. It is postulated that the repetitive discharges as well as the myotonic discharges are the manifestation of muscle membrane hyperexcitability secondary to the abnormal, noninactivating sodium channels.- - - - - - - - - - ranking = 25344.413037425keywords = temperature (Clic here for more details about this article) |
| | Next -> |