1/365. Chronic hepatitis b and neurogenic muscle disease: case report.A 17 year-old boy with chronic hepatitis b who developed left-sided muscle wasting is reported. When other possible known diseases as the cause of the neurogenic muscle disease were excluded it was hypothesised that there was a relation between the chronic hepatitis b infection and the neurogenic muscle disease. An immunopathogenesis could be explained by the presence of HBsAg in the cerebral spinal fluid.- - - - - - - - - - ranking = 1keywords = muscle (Clic here for more details about this article) |
2/365. Alternate four-point sweep-through gait--a technique for patients with combined neuromuscular and visual impairments: case reports.This article reports on two patients with combined neuromuscular and visual impairments who used a modification of the classic alternate four-point crutch gait, which allowed them to simultaneously explore the upcoming environment for obstacles or change in terrain while maintaining sufficient support for their lower limbs. The technique should be useful for patients with diabetic neuropathy/retinopathy combinations, multiple sclerosis with optic neuritis, and neurosarcoidosis and in elderly patients with multiple disabilities.- - - - - - - - - - ranking = 0.0017808885060857keywords = limb (Clic here for more details about this article) |
3/365. Autonomic failure and proximal skeletal myopathy in a patient with primary Sjogren syndrome.Autonomic failure and proximal skeletal myopathy are rare features of the Sjogren syndrome (SS). We describe a 51-year-old woman with primary SS who had development of esophageal dysmotility, urinary retention, severe orthostatism, and skeletal myopathy during a 3-month period after the diagnosis of SS. Her symptoms and signs responded well to corticosteroid therapy. Although dysfunction of the peripheral nervous system has a prevalence rate of 20% in patients with SS, most commonly the nerve dysfunction is a sensory deficit, and autonomic neuropathy is less frequent. Autonomic neuropathy due to SS may be underreported. The cause of our patient's myopathy remains undetermined. We speculate that the myopathy was due to either a form of polymyositis or an immune-mediated neuropathy with muscle involvement.- - - - - - - - - - ranking = 0.14285714285714keywords = muscle (Clic here for more details about this article) |
4/365. A case of McLeod syndrome with unusually severe myopathy.A 51-year-old man developed weakness and muscle atrophy in the legs at the age of 41, later followed by choreiform involuntary movements. Neurological and laboratory examinations revealed severe muscle weakness and atrophy, and areflexia in all the extremities, acanthocytosis and an elevated serum creatine kinase level. Together with these findings, the weak expression of Kell blood group antigens and the absence of the Kx antigen led to a definite diagnosis of McLeod syndrome for his condition. brain magnetic resonance imaging revealed marked atrophy of the head of the caudate nuclei. Although immunocytochemical analysis of dystrophin in muscle specimens from our patient revealed normal staining, we found prominent fiber size variability, central nuclei, and connective tissue proliferation as well as necrotic and regenerating fibers, which are as a whole compatible with the myopathology of muscular dystrophy. Moreover, muscle computerized tomography of the lower extremities revealed the 'selectivity pattern' characteristically reported in muscular dystrophies including Duchenne type muscular dystrophy. The muscular symptoms and pathology in McLeod syndrome have been reported to be mild, but the present case clearly shows that the muscular features in this condition may be much more severe than previously thought.- - - - - - - - - - ranking = 0.57142857142857keywords = muscle (Clic here for more details about this article) |
5/365. Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.Mammalian cytochrome c oxidase (COX) catalyses the transfer of reducing equivalents from cytochrome c to molecular oxygen and pumps protons across the inner mitochondrial membrane. Mitochondrial dna (mtDNA) encodes three COX subunits (I-III) and nuclear dna (nDNA) encodes ten. In addition, ancillary proteins are required for the correct assembly and function of COX (refs 2, 3, 4, 5, 6). Although pathogenic mutations in mtDNA-encoded COX subunits have been described, no mutations in the nDNA-encoded subunits have been uncovered in any mendelian-inherited COX deficiency disorder. In yeast, two related COX assembly genes, SCO1 and SCO2 (for synthesis of cytochrome c oxidase), enable subunits I and II to be incorporated into the holoprotein. Here we have identified mutations in the human homologue, SCO2, in three unrelated infants with a newly recognized fatal cardioencephalomyopathy and COX deficiency. Immunohistochemical studies implied that the enzymatic deficiency, which was most severe in cardiac and skeletal muscle, was due to the loss of mtDNA-encoded COX subunits. The clinical phenotype caused by mutations in human SCO2 differs from that caused by mutations in SURF1, the only other known COX assembly gene associated with a human disease, Leigh syndrome.- - - - - - - - - - ranking = 0.14285714285714keywords = muscle (Clic here for more details about this article) |
6/365. Envenomation by the scorpion (Centruroides limbatus) outside its natural range and recognition of medically important scorpions.A 67-year-old woman presented to a community emergency department in Orange County, CA, after she was stung by a scorpion identified as Centruroides limbatus from central america. She developed local pain and systemic symptoms, including parasthesias, flushing, hypertension, and wheezing. Envenomation by this genus of scorpion has not previously been reported in Orange County. scorpions have been reported to be accidentally transported to areas where they are not indigenous, and patients may present anywhere with envenomation by dangerous scorpion species. physicians should recognize general identifying characteristics of dangerous scorpions and serious signs of envenomation. Almost all dangerous genera of scorpions (including Centruroides sp.) are in the family Buthidae, which can be identified by a triangular sternal plate. Severe systemic signs of envenomation by Centruroides sp. may include respiratory difficulty, somatic neuromuscular dysfunction, and cranial nerve dysfunction. patients stung by dangerous scorpions may require airway support, extended observation, antivenin, and avoidance of respiratory depressive medications.- - - - - - - - - - ranking = 0.0089044425304287keywords = limb (Clic here for more details about this article) |
7/365. Central core disease and congenital neuromuscular disease with uniform type 1 fibers in one family.We report a family in which the father had central core disease and his son had congenital neuromuscular disease with uniform type 1 fibers. This is the first report of such a combination. Although they had no recognized mutation in the ryanodine receptor gene, it is highly likely that the son also had central core disease but without core structures. The absence of cores may be due to the muscle sample or the young age of the patient since core structures have been reported to increase with age. Although the prevalence of core structures in individual muscles is unknown, there is a possibility of sampling error. In some patients, congenital neuromuscular disease with uniform type 1 fibers is closely related to or identical with central core disease.- - - - - - - - - - ranking = 0.28571428571429keywords = muscle (Clic here for more details about this article) |
8/365. 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 = 1.1428571428571keywords = muscle (Clic here for more details about this article) |
9/365. Mononeuropathy of the deep palmar branch of the ulnar nerve. A case occurring in a diabetic woman.A diabetic woman developed mononeuropathy of the deep palmar branch of the ulnar nerve six months following repetitive palmar trauma. The illness was initially incorrectly diagnosed as motor neuron disease, emphasizing the importance of accurate diagnosis of diseases that cause wasting of intrinslc muscles in the hand.- - - - - - - - - - ranking = 0.14285714285714keywords = muscle (Clic here for more details about this article) |
10/365. critical illness neuromuscular disease: clinical, electrophysiological, and prognostic aspects.BACKGROUND: critical illness neuromuscular disease, which has been recognised as a distinct clinical entity in adults, remains poorly described in children. AIMS: To assess retrospectively the clinical, electrophysiological, and prognostic features of the disease. methods: Retrospective study in a children's university hospital. RESULTS: Five critically ill patients presented with generalised paralysis, associated with long lasting failure to breathe in three. The cause of the generalised paralysis was critical illness neuropathy in two, acute myopathy in two, and mixed neuromyopathy in one. CONCLUSIONS: Neuromuscular disease should be suspected in critically ill children with muscle weakness. Because corticosteroids and muscle relaxants appear to trigger some types of intensive care unit neuromuscular disease in children, their use should be restricted or administered at the lowest doses possible.- - - - - - - - - - ranking = 0.28571428571429keywords = muscle (Clic here for more details about this article) |
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