1/42. Neuromyotonia: an unusual presentation of intrathoracic malignancy.A 48 year old woman is described who presented with increasing muscular rigidity and who was found to have a mediastinal tumour. Electrophysiological studies revealed that the muscular stiffness resulted from very high frequency motor unit activity which outlasted voluntary effort, and which was abolished by nerve block. The abnormal activity may have arisen at the anterior horn cell level. Marked improvement followed the administration of diphenylhydantoin.- - - - - - - - - - ranking = 1keywords = myotonia (Clic here for more details about this article) |
2/42. 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 = 1.5keywords = myotonia (Clic here for more details about this article) |
3/42. Hereditary motor and sensory neuropathy type II (HMSN-II) and neurogenic muscle hypertrophy: a case report and literature review.We present two siblings affected by hereditary motor and sensory type II neuropathy (HMSN-II) with neuromyotonia, and associated with muscle hypertrophy of the thighs and calves in one. We review the literature about the association between HMSN-II, neuromyotonia and muscle hypertrophy. Muscle enlargement in HMSN-II is rare and may be sporadic or under genetic control. In our patient, muscle hypertrophy was sporadic and probably due to neuromyotonia. The relationship between muscle hypertrophy and neuromyotonia can be deduced by the fact that both conditions were reduced after diphenylhydantoin treatment (200 mg/day).- - - - - - - - - - ranking = 1keywords = myotonia (Clic here for more details about this article) |
4/42. 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 = 0.90393072867065keywords = myopathies, myotonia (Clic here for more details about this article) |
5/42. Neuromyotonia. A mild case.A mild case of the syndrome of generalized, sustained, fine muscular twitchings and impaired relaxation after a vigorous contraction (but without a myotonic response), which is presumably due to peripheral motor nerve hyperactivity is described. In this case, generalized muscle stiffness, deformities of the hands and feet, excessive sweating and an increased basal metabolic rate were not present.- - - - - - - - - - ranking = 1keywords = myotonia (Clic here for more details about this article) |
6/42. Neuromuscular scoliosis: causes of deformity and principles for evaluation and management.scoliosis is commonly associated with a variety of neuromuscular disorders including conditions affecting upper and lower motor neurons as well as myopathies. Contained herein is a discussion of the spectrum of neuromuscular disorders that have been associated with scoliosis and related spinal deformities. Management, including surgical treatment in such patients, is summarized including indications, expectations, and impact on trunk balance, pulmonary function, and appearance.- - - - - - - - - - ranking = 0.65393072867065keywords = myopathies (Clic here for more details about this article) |
7/42. Neuromyotonia: report of a case.Neuromyotonia is a rare condition of peripheral nerve dysfunction characterized by the signs of motor nerve hyperactivity, namely, myokymia, fasciculations, and muscular stiffness. relaxation of voluntary muscle contraction is delayed, and fluid movements are impaired to a variable degree. Signs of sensory involvement are less frequent. Usually, therapy with carbamazepine or phenytoin provides rapid improvement. In the present communication, a typical case is reported, and the most important differential diagnoses are outlined.- - - - - - - - - - ranking = 1.25keywords = myotonia (Clic here for more details about this article) |
8/42. Rimmed vacuoles in facioscapulohumeral muscular dystrophy: a unique ultrastructural feature.Rimmed vacuoles (RV) are a characteristic pathological feature in inclusion body myositis, but may also occur in other neuromuscular disorders, such as distal myopathies, oculopharyngeal myopathy, polymyositis, rigid spine syndrome, congenital myopathies, and some limb girdle muscular dystrophies, as well as in various neurogenic diseases. We describe a patient with RV in familial facioscapulohumeral muscular dystrophy (FSHD) associated with an FSHD-typical deletion on chromosome 4q35. Thus, FSHD should be included in the differential diagnosis of neuromuscular disorders with RV.- - - - - - - - - - ranking = 1.3078614573413keywords = myopathies (Clic here for more details about this article) |
9/42. Histochemical and ultrastructural findings in a case of centronuclear myopathy.A case of centronuclear myopathy is presented. The presence of central nuclei in almost all fibres, the existence of type I fibres only, the histochemical pattern of a negative central zone with a perinuclear halo and a hyperactive rim with oxidative enzymes and the ultrastructural data are discussed in the light of the previous literature. The possible relationships with other myopathies are taken into consideration as well as the fact that central nuclei may be a non-specific change in several conditions. Consequently centronuclear myopathy could turn out to be a syndrome from which different entities can be isolated.- - - - - - - - - - ranking = 0.65393072867065keywords = myopathies (Clic here for more details about this article) |
10/42. Post-irradiation neuromyotonia affecting trigeminal nerve distribution: an unusual presentation.We describe two patients who developed neuromyotonia of the floor of the mouth after irradiation of a motor branch (V3) of the trigeminal nerve. The neuromyotonia manifested as sustained muscle contraction due to peripheral nerve dysfunction. The neuromyotonia in both patients was controlled with carbamazepine. radiation-exposed nerves can become symptomatic months or years after completion of radiation therapy.- - - - - - - - - - ranking = 1.75keywords = myotonia (Clic here for more details about this article) |
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