21/332. Distinguishing clinical and electrodiagnostic features of X-linked bulbospinal neuronopathy.X-linked bulbospinal neuronopathy (XLBSN) or Kennedys disease is a rare inherited neuromuscular disease characterized by adult-onset muscle weakness, usually in a limb-girdle distribution. It is frequently misdiagnosed despite a distinctive clinical presentation, usually due to the absence of a clear family history, and perhaps also due to failure of recognition. Accurate diagnosis is crucial for genetic counseling purposes and because alternative diagnoses usually carry a poorer prognosis. We evaluated 4 patients with XLBSN and one symptomatic female heterozygote patient. Based on our clinical observations in these patients and a systematic review of previously reported cases, the following clinical and electrophysiologic features when present in the setting of adult-onset muscle weakness, are strongly suggestive of the disorder: 1) facial weakness, 2) facial twitching or fasciculations, 3) tongue weakness and atrophy, 4) postural hand tremor, 5) hypo- or areflexia, and 6) absent or low-amplitude sensory nerve action potentials despite clinically normal sensation. We also hypothesize regarding the possibility of partial expression of the abnormal XLBSN gene in a symptomatic heterozygote female patient.- - - - - - - - - - ranking = 1keywords = muscle, limb (Clic here for more details about this article) |
22/332. Adhesive capsulitis of the glenohumeral joint with an unusual neuropathic presentation: a case report.A 37-yr-old woman presented with a 7-mo history of unilateral shoulder girdle stiffness, pain, and weakness and had already been diagnosed with frozen shoulder. physical examination revealed scapular winging and suspicious focal paralysis of shoulder girdle muscles. Subsequently, electrodiagnostic studies reported denervation of deltoid, infraspinatus, serratus anterior, and lower cervical paraspinal muscles, in addition to a prolonged long thoracic nerve latency. The history, physical examination, and cervical magnetic resonance imaging scan seemed most consistent with neuralgic amyotrophy, although the electrodiagnostic examination could be interpreted as cervical radiculopathy. Some of the difficulties in identifying neuralgic amyotrophy and distinguishing it from cervical radiculopathy are discussed herein. Historically, frozen shoulder has seemed to develop as a complication of the neuropathic process. Both neuralgic amyotrophy and frozen shoulder have a poorly understood pathogenesis, and their combined presence is presumed to be rare. Because of difficulties inherent in the physical examination of frozen shoulder, a coexistent neuropathic process may go undetected.- - - - - - - - - - ranking = 0.99624539479115keywords = muscle (Clic here for more details about this article) |
23/332. Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial dna.We report the outcome of two prenatal analyses for the T to G mutation at nucleotide 8993 in the mitochondrial dna. This mutation is associated with neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP) and the neurodegenerative condition, Leigh syndrome. One prospective mother was the sister of a severely affected individual, and had previously had an unaffected child and a stillborn child. The second prospective mother had two unaffected children and two affected children. The mutation was not detected in the chorionic villus sample from one fetus nor in the amniocytes from the other fetus. Both pregnancies were continued, and the resulting children were healthy at two years and five years of age. prenatal diagnosis of this mitochondrial dna mutation is an option likely to be acceptable to some families to prevent the birth of a child at high risk for neurological disease.- - - - - - - - - - ranking = 0.49812269739557keywords = muscle (Clic here for more details about this article) |
24/332. cauda equina syndrome due to lumbosacral arachnoid cysts in children.We describe the clinical, neuroradiological and surgical aspects of two children in whom symptoms attributable to cauda equina compression were caused by spinal arachnoid cysts. The first patient presented with recurrent urinary tract infections due to neurogenic bladder dysfunction, absent deep tendon reflexes and sensory deficit in the lower limbs. The second child presented with unstable gait as a result of weakness and diminished sensation in the lower extremities. Spinal magnetic resonance imaging revealed a lumbosacral arachnoid cyst in both patients. During surgery the cysts were identified and excised. Two years after surgery, the sensory deficits of the first patient have disappeared and patellar and ankle reflexes can be elicited, but there is no improvement in bladder function. Neurological examination of the second patient was normal. We conclude that the diagnosis of cauda equina syndrome should prompt a vigorous search for its aetiology. Lumbosacral arachnoid cysts are a rare cause of cauda equina syndrome in children.- - - - - - - - - - ranking = 0.0037546052088531keywords = limb (Clic here for more details about this article) |
25/332. Characteristic form of standing up from squatting in Miyoshi's distal muscular dystrophy.A 27-year-old woman with Miyoshi's distal muscular dystrophy devised a unique form of standing up from a squatting position; She held her ankles with her hands to support the weight transfer, fixed the heels, extended the knees to elevate the hips, raised the upper half of the body, and finally stood up. This strategy illustrates the characteristic and specific distribution of the wasted muscle in this disease.- - - - - - - - - - ranking = 0.49812269739557keywords = muscle (Clic here for more details about this article) |
26/332. calcitriol-mediated hypercalcaemia and increased interleukins in a patient with sarcoid myopathy.In this report we describe a patient with sjogren's syndrome (SS) and calcitriol-mediated hypercalcaemia. Initially, there was no clinical evidence of sarcoidosis. The patient had hypercalcaemia associated with increased calcitriol serum levels; circulating interleukin-6 and tumour necrosis factor alpha levels were also elevated. At the beginning, therapy with clodronate was effective in decreasing the serum calcium levels. However, the serum calcitriol decreased only after chloroquine treatment was added. After 2 years of therapy, the patient developed progressive and extensive muscle weakness. A muscle biopsy revealed a very prominent non-caseating granulomatous myopathy. Corticosteroid therapy was then instituted. Although both chloroquine and corticosteroid therapy were associated with decreased serum interleukin and calcitriol levels, only corticosteroid therapy was effective in treating the sarcoid myopathy. The role of cytokines in calcitriol mediated hypercalcaemia is discussed.- - - - - - - - - - ranking = 0.99624539479115keywords = muscle (Clic here for more details about this article) |
27/332. Chronic demyelinating hypertrophic brachial plexus neuropathy.A patient with unilateral, painless, chronic progressive upper limb sensorimotor deficit showed electrophysiological evidence of a focal demyelinating neuropathy with almost complete conduction block across the brachial plexus. magnetic resonance imaging disclosed marked brachial plexus hypertrophy. Intravenous immunoglobulin led to fast and complete recovery, maintained by intermittent perfusions. Hypertrophic brachial plexus neuropathy can be a presentation of focal chronic inflammatory demyelinating polyradiculoneuropathy. Objective and quantitative assessment of hand function is useful to evaluate treatment results and to optimize treatment regimens.- - - - - - - - - - ranking = 0.0037546052088531keywords = limb (Clic here for more details about this article) |
28/332. rhabdomyolysis as the presenting manifestation of calciphylaxis.A 43-year-old woman was admitted with progressive leg pains and weakness and was found to have rhabdomyolysis. Prior to this admission the patient had hypercalcemia, but this returned to normal following treatment with calcitonin. During the hospitalization, she developed the syndrome of calciphylaxis consisting of necrotic skin and muscle associated with vascular calcification. This is the first case report of rhabdomyolysis caused by calciphylaxis in a patient without chronic renal failure.- - - - - - - - - - ranking = 0.49812269739557keywords = muscle (Clic here for more details about this article) |
29/332. An uncommon cause of lower limb weakness.We describe a case of a severely mentally disabled patient diagnosed as suffering from guillain-barre syndrome and treated with repeated plasma exchange. However, the abrupt onset of a cardiovascular collapse prompted a more in-depth diagnostic workup which demonstrated that the neurologic symptoms were likely to be ascribed to poisoning with heavy metals from a large number of ingested coins and other metallic items.- - - - - - - - - - ranking = 0.015018420835412keywords = limb (Clic here for more details about this article) |
30/332. McArdle's disease presenting with asymmetric, late-onset arm weakness.McArdle's disease or myophosphorylase deficiency is one of the most common muscle glycogenoses and typically presents in childhood or adolescence with exercise intolerance, myalgia, myoglobinuria, and cramps in exercising muscle. We describe an elderly man who developed asymmetric proximal arm weakness at age 73. He had no history of exercise-induced cramps, myalgias, or myoglobinuria. creatine kinase levels were elevated, serum lactate did not rise on ischemic exercise testing, and muscle biopsy showed a vacuolar myopathy with absent myophosphorylase activity. This unusual case demonstrates that McArdle's disease may present with fixed, asymmetric proximal weakness at an advanced age and should be considered in this clinical setting, especially when a history of poor exercise tolerance can be elicited.- - - - - - - - - - ranking = 1.9405774232806keywords = muscle, cramp (Clic here for more details about this article) |
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