Cases reported "Muscular Diseases"

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1/46. The clinical patterns of myalgia in children with familial mediterranean fever.

    OBJECTIVES: To study the frequency and clinical patterns of myalgia in a defined group of children with familial mediterranean fever (FMF). methods: A prospective 4-year (September 1995-September 1999) study of children with FMF seen in the pediatric FMF clinic of jordan University teaching hospital. diagnosis of FMF was made according to published criteria. Once the diagnosis of FMF and myalgia was made, details about myalgia were collected by interview with the child and his/her parents and entered into a special study form. RESULTS: Of 264 children with FMF seen over the study period, 65 (25%) developed myalgia. Three clinical patterns of myalgia were identified: the spontaneous pattern, the exercise-induced pattern, and the protracted febrile myalgia syndrome (PFMS), seen in 8%, 81%, and 11% of patients, respectively. The three patterns differed in the severity of pain, height of fever, and duration of the episode. In 33 children with the exercise-induced myalgia, in which response to colchicine could be reliably assessed, a favorable response was achieved in 97%. Three children with the PFMS had a dramatic response to corticosteroids. CONCLUSIONS: myalgia in children with FMF is common and can follow three different clinical patterns.
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2/46. hypothyroidism with subacute pseudomyotonia--an early form of Hoffmann's syndrome? Report of a case.

    A 25-year-old man was admitted to the hospital because of painful muscle cramps and action myospams of subacute onset and 6 weeks' duration. No myotonia could be demonstrated objectively and his deep tendon reflexes showed no prolongation of the relaxation phase. serum creatinine was raised but creatinine clearance was normal. serum levels of aldose, CPK, ASAT and ALAT were increased but ordinary light microscopy revealed no histological signs of muscle disease in a quadriceps biopsy. ECG showed a prolonged PQ interval and flat T waves in the left precordial leads. Laboratory tests of thyroid function revealed intensive hypothyroidism, and high titers of circulating thyroid antibodies were demonstrated. During 2 1/2 months of thyroid therapy, the muscle symptoms gradually disappeared completely and the patient could return to work. By that time the serum enzymes and the ECG had normalized. Despite the lack of objective signs of myotonia, we consider that the very dominant subjective muscle symptoms, severe enough to prevent the patient from performing his ordinary manual work and completely reversible on thyroid therapy, justify the designation of hypothyroid myopathy. The question is raised whether the case represents an early form of Hoffmann's syndrome.
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3/46. Reversible vacuolar myopathy of type II fibers.

    A 23-year-old ex-bicycle racer with vague gastrointestinal symptoms had an acute weight loss of 13.6 kg (30 lb). During the period of maximal weight loss, he experienced muscle weakness, dysphagia, bradycardia, and T wave changes on the electrocardiogram. His skeletal muscle biopsy showed a severe vacuolar myopathy devastating the atrophic type II fibers. Without treatment, he recovered completely and has remained well. This may be an exaggerated or acute form of type II atrophy not previously reported, or it may represent an acute muscular degeneration.
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4/46. Repetitive nerve stimulation and muscle membrane excitability: case report and review.

    Few muscle disorders can be diagnosed by repetitive nerve stimulation (RNS). Decreasing compound muscle action potentials (CMAP) on high frequency RNS is recorded in muscle channelopathies, and particularly in sporadic and recessive congenital myotonia. In this myopathy, decreasing CMAP after exercise test and RNS are the most sensitive electrophysiological in detecting muscle membrane dysfunction and are considered highly informative even in mildly symptomatic patients. We report on a patient with excercise-induced diffuse muscle cramps and myalgia; muscle biopsy and laboratory investigations were normal. Decreasing CMAP on high frequency RNS suggested muscle membrane conduction anomalies and, though clinical and electrical myotonia was not detected, the neurophysiological finding raised the suspicion of congenital myotonia and addressed to molecular investigation.
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5/46. Mitochondrial dna depletion: mutations in thymidine kinase gene with myopathy and SMA.

    BACKGROUND: The mitochondrial dna (mtDNA) depletion syndrome (MDS) is an autosomal recessive disorder of early childhood characterized by decreased mtDNA copy number in affected tissues. Recently, MDS has been linked to mutations in two genes involved in deoxyribonucleotide (dNTP) metabolism: thymidine kinase 2 (TK2) and deoxy-guanosine kinase (dGK). Mutations in TK2 have been associated with the myopathic form of MDS, and mutations in dGK with the hepatoencephalopathic form. OBJECTIVES: To further characterize the frequency and clinical spectrum of these mutations, the authors screened 20 patients with myopathic MDS. RESULTS: No patient had dGK gene mutations, but four patients from two families had TK2 mutations. Two siblings were compound heterozygous for a previously reported H90N mutation and a novel T77M mutation. The other siblings harbored a homozygous I22M mutation, and one of them had evidence of lower motor neuron disease. The pathogenicity of these mutations was confirmed by reduced TK2 activity in muscle (28% to 37% of controls). CONCLUSIONS: These results show that the clinical expression of TK2 mutations is not limited to myopathy and that the myopathic form of MDS is genetically heterogeneous.
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6/46. Psoas haematoma and femoral neuropathy associated with enoxaparin therapy.

    Haemorrhage into the iliopsoas muscle causing femoral neuropathy is an infrequent complication of haemophilia or anticoagulant therapy. The association of an iliopsoas haematoma with enoxaparin therapy is very rare. We describe a case of femoral neuropathy secondary to psoas haematoma in a patient who was on enoxaparin therapy for suspected non-Q wave myocardial infarction. There is no clear consensus for the treatment of these haematomas, with both surgical and conservative options advocated. In this case, our patient recovered fully following conservative management.
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7/46. A unique case of reducing body myopathy.

    The clinical, electromyographic, and histologic characteristics of a 17-year-old girl with reducing body myopathy are described. She is, to our knowledge, the oldest reported case and the only patient described with severe mitral valve prolapse and scoliosis. electromyography demonstrated spontaneous positive sharp waves and fibrillation potentials with many low-amplitude, short, polyphasic motor unit potentials. The right deltoid muscle was characterized by focal areas with large fibers associated with increased endomysial connective tissue and "split" fibers. Purple-gray sarcoplasmic masses stained with trichrome were PAS-negative, appeared as "empty" spaces with both ATPase and NADH-TR, and stained darkly with menadione NBT. The features described expand the clinical presentation of this myopathy, and may lead to a better understanding of its etiology.
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keywords = wave
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8/46. High-frequency diaphragmatic flutter: symptoms and treatment by carbamazepine.

    Classic diaphragmatic flutter, a rare disorder associated with dyspnoea, thoracic or abdominal wall pain, and epigastric pulsations, is caused by involuntary contractions of the diaphragm with a frequency of 0.5-8.0 Hz. We have seen three patients with diaphragmatic flutter of higher frequency not associated with respiratory disease. The patients presented with longstanding oesophageal belching, hiccups, and retching, respectively. The diagnosis was established by the presence on electromyography of the diaphragm and scalene and parasternal intercostal muscles of repetitive discharges of 9-15 Hz. Spirographic tracings, especially those of volume or flow vs time, showed similar high-frequency oscillations superimposed on tidal respiratory movements. Treatment with carbamazepine 200-400 mg three times daily led to disappearance or great improvement of flutter and clinical symptoms in all three patients. The phenomenon was not seen in other patients with chronic hiccups or oesophageal belching or in patients without these symptoms who had undergone electromyography or spirography for other reasons. Thus, high-frequency diaphragmatic flutter seems to be a new disease entity. The response to carbamazepine, which suggests that the flutter causes the symptoms, requires further study.
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9/46. Acute myopathy during treatment of status asthmaticus with corticosteroids and steroidal muscle relaxants.

    Acute myopathy in patients being treated for severe asthma has been recognized with increasing frequency since first being described in 1977. We report three patients treated for status asthmaticus who developed severe generalized weakness. Electrophysiologic studies and muscle biopsy revealed evidence of muscle destruction. Each of these patients was treated with high-dose corticosteroids and underwent prolonged neuromuscular blockade with a steroidal muscle relaxant. A review of the literature revealed 15 similar cases. We postulate that the combined effects of corticosteroids and muscle relaxants on the muscle cell may be responsible for this myopathy. patients treated with corticosteroids and NMBs should be carefully monitored for the development of myopathy.
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10/46. Hoffman's syndrome: pseudohypertrophic myopathy as initial manifestation of hypothyroidism. Case report.

    The frequency of myopathy in hypothyroidism ranges from 30 to 80%. The major symptoms related are weakness, muscular cramps and myalgia. The pseudohyperthrophic form is called Hoffman's syndrome. The electrophysiological study reveals myopathy, neuropathy or mixed pattern. Laboratorial investigation generally shows increased levels of muscle enzymes and low serum thyroid hormones, with thyrotrophic-stimulating hormone (TSH) elevated. The treatment consists in hormone replacement and the prognosis is good in most of the cases. We report an adult male who developed muscular cramps, myalgia, weakness, pseudohyperthrophy, associated with facial edema and alteration of his voice. The muscle enzymes were increased and T4 was undetectable with a raised level of TSH. The myopathy was the initial manifestation of hypothyroidism in this case.
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