11/332. Case of the month: February 1999--54 year old man with severe muscle weakness.A 54 year old man developed rhabdomyolysis one year after beginning treatment with a combination of lovastatin (an HMGCoA reductase inhibitor) and niacin. Muscle biopsy showed a severe necrotizing myopathy affecting both fibre types. Recovery occured gradually with cessation of medication. The spectrum of cholesterol lowering agent myopathy may include delayed cases of unusual severity.- - - - - - - - - - ranking = 1keywords = muscle (Clic here for more details about this article) |
12/332. adult-onset nemaline myopathy: Another cause of dropped head.A 59-year-old man with severe neck extensor weakness had findings diagnostic of nemaline myopathy on muscle biopsy. review of the literature shows that dropped head occurs in nearly half of the patients with adult-onset nemaline myopathy. Other leading causes of dropped head syndrome are amyotrophic lateral sclerosis, myasthenia gravis, and isolated neck extensor myopathy.- - - - - - - - - - ranking = 0.25keywords = muscle (Clic here for more details about this article) |
13/332. Cervical cord tethering mimicking focal muscular atrophy.spinal cord tethering rarely occurs in the cervical region. In adults, it usually results from previous operations. However, congenital origin is always diagnosed and treated early in the infant period. We report a 12-year-old boy with cervical spinal dysraphism which was erroneously diagnosed as focal muscular atrophy, a benign form of motor neuron disease. The patient was brought to our hospital because of rapid deterioration of symptoms. Careful evaluation disclosed a hairy dimple at the nuchal area, which led to the correct diagnosis. X-ray of the cervical spine showed spina bifida from C(4) to C(6) levels and fusion of the laminae of C(4) and C(5). spine MRI studies disclosed that the cervical cord was tethered caudally and dorsally, and the ventral nerve roots were markedly stretched, especially over the left side. Surgical intervention was undertaken and the patient's muscle power improved after untethering. The purpose of this report is to acquaint the reader with a surgically treatable condition that may appear to be benign focal amyotrophy. skin lesion at the nuchal area should be carefully looked for.- - - - - - - - - - ranking = 0.25keywords = muscle (Clic here for more details about this article) |
14/332. Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency.plectin, an intermediate filament linking protein, is normally associated with the sarcolemma, nuclear membrane, and intermyofibrillar network in muscle, and with hemisdesmosomes in skin. A 20-year-old female with epidermolysis bullosa simplex since birth had progressive ocular, facial, limb, and trunkal weakness and fatigability since age 9, fivefold CK elevation, a 25% decrement with myopathic motor unit potentials and increased electrical irritability on electromyography, and no anti-acetylcholine receptor (AChR) antibodies. plectin expression was absent in muscle and severe plectin deficiency was noted in skin. Morphologic studies revealed necrotic and regenerating fibers and a wide spectrum of ultrastructural abnormalities: large accumulations of heterochromatic and lobulated nuclei, rare apoptotic nuclei, numerous cytoplasmic and few intranuclear nemaline rods, disarrayed myofibrils, thick-filament loss, vacuolar change, and pathologic alterations in membranous organelles. Many endplates (EPs) had an abnormal configuration with chains of small regions over the fiber surface and a few displayed focal degeneration of the junctional folds. The EP AChR content was normal. in vitro electrophysiologic studies showed normal quantal release by nerve impulse, small miniature EP potentials, and fetal as well as adult AChR channels at the EP. Our findings support the notion that plectin is essential for the structural integrity of muscle and skin, and for normal neuromuscular transmission.- - - - - - - - - - ranking = 0.75188437769875keywords = muscle, limb (Clic here for more details about this article) |
15/332. Late repair of simultaneous bilateral distal biceps brachii tendon avulsion with fascia lata graft.A 50 year old rock climber sustained a bilateral rupture of the distal biceps brachii tendons. He retained some flexion power in both arms but minimal supination, being weaker on the non-dominant right side. As the patient presented late, with retraction and shortening of the biceps muscle bellies, reconstruction was carried out using fascia lata grafts on both sides. Because of residual weakness on the left (dominant) side, three further surgical procedures had to be carried out to correct for elongation of the graft. A functionally satisfactory outcome, comparable with that on the right side, was eventually obtained. In summary, bilateral fascia lata grafts to bridge the gap between the retracted biceps bellies and the radial tuberosities were successful in restoring function and flexion power to the elbow. Despite being the stronger side, the dominant arm did not respond as well to the initial surgery. This may be due to overuse of this arm after the operation.- - - - - - - - - - ranking = 0.25188437769875keywords = muscle, limb (Clic here for more details about this article) |
16/332. 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 = 1keywords = muscle (Clic here for more details about this article) |
17/332. Proximal diabetic neuropathy presenting with respiratory weakness.A patient is described with proximal diabetic neuropathy presenting with respiratory weakness. A 50 year old man developed progressive shortness of breath over 2 months. He also had weakness of hip flexion. phrenic nerve responses were absent, and spontaneous activity was seen in the intercostal and lumbar paraspinal muscles with long duration neurogenic MUPs and reduced recruitment in the diaphragm. Without treatment, the patient began to improve with resolution of his proximal leg weakness and breathing difficulties. Proximal diabetic neuropathy is another cause of neuromuscular respiratory weakness.- - - - - - - - - - ranking = 0.25keywords = muscle (Clic here for more details about this article) |
18/332. Ipsilateral facial weakness in upper medullary infarction-supranuclear or infranuclear origin?We describe two patients with upper medullary infarctions showing ipsilateral facial weakness and relative sparing of the upper facial muscles. Electrophysiological follow-up using transcranial magnetic stimulation of the motor cortex in combination with stimulation of the peripheral facial nerve disclosed a supranuclear (corticofacial) tract lesion in one patient and a partial nuclear/infranuclear intra-axial facial nerve lesion in another.- - - - - - - - - - ranking = 0.25keywords = muscle (Clic here for more details about this article) |
19/332. Dropped head syndrome. Three case-reports.Dropped head syndrome is characterized by gradual forward sagging of the head due to weakness of the neck extensor muscles. We report three cases in elderly patients seen by rheumatologists at our institution. There was some evidence suggestive of a neurogenic process, whereas most reported cases of dropped head syndrome have been ascribed to myopathy. Dropped head syndrome can probably be produced by multiple causes. The close ties between dropped head syndrome and acquired camptocormia in adults are discussed.- - - - - - - - - - ranking = 0.25keywords = muscle (Clic here for more details about this article) |
20/332. A novel 7.4 kb mitochondrial deletion in a patient with congenital progressive external ophthalmoplegia, muscle weakness and mental retardation.We present a patient with external ophthalmoplegia, bilateral ptosis, progressive muscle weakness with "ragged-red fibres" and mental retardation. Mitochondrial dna analysis by Southern blot revealed heteroplasmy in muscle for a 7.4 kb deletion. In white blood cells, the deletion was only detectable by PCR. There was no evidence for duplications, nor for multiple deletions in the proband or siblings. PCR analysis did not reveal the presence of a mitochondrial dna defect in the parents and siblings. Thus, there is no experimental support for a maternally inherited mitochondrial dna deletion. We consider this a sporadic case with a de novo deletion. Diabetes and complaints of fatigue, also seen in this family, are probably coincidental. Mental retardation has been reported occasionally in patients with mitochondrial deletions, but is not common.- - - - - - - - - - ranking = 1.5keywords = muscle (Clic here for more details about this article) |
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