Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C1762617 (weakness)
 37,932 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report the first case of Isaacs' syndrome in which an inflammatory demyelinating neuropathy was documented histologically. For 9 months, the patient developed slowly progressive weakness, muscle spasms and stiffness, fasciculations, and myokymia in the arms, which were unmodified by sleep. Nerve conduction studies showed multifocal motor conduction block, abnormal dispersion phenomenon, and abnormal sensory and mixed nerve conduction. Needle electromyogram showed continuous motor unit potentials at rest with bursts of rapid-firing discharges which were unaffected by spinal anesthesia but diminished by peripheral nerve block and completely abolished by local curarization. Sural nerve biopsy demonstrated an inflammatory demyelinating neuropathy. Muscle cramping, twitching, and stiffness responded to phenytoin. The patient's weakness gradually responded to prednisone and azathioprine. Over a 17-year period, the patient had three relapses which were well controlled with prednisone and azathioprine. At this time, the patient is symptom-free without any medication.
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PMID:Isaacs' syndrome associated with chronic inflammatory demyelinating polyneuropathy. 855 71

The absence of facial twitching, weakness, or palsy makes the diagnosis of facial neuroma difficult. The authors report a case of neuroma of the horizontal portion of the facial nerve masked by the presence of a chronic ear. A woman with a long history of discharge and hypoacousia in her left ear presented with acute dizziness. Examination revealed grade 3 horizontal right nystagmus, left anacousia, and the appearance of an epitympanic cholesteatoma. Computed tomography (CT) was performed after the vestibular condition improved. The clinical diagnosis of chronic otitis media with cholesteatoma together with the radiologic finding of the mastoid and tympanic cavity completely occupied by soft tissue were enough to send the radiologist astray. The radiologic diagnosis confirmed that the bony destruction of the vestibule and lateral semicircular canal could be caused by a cholesteatoma. A neuroma of the horizontal portion of the facial nerve was discovered during surgery performed for the chronic ear. The postoperative study of the CT scans showed that there was no erosion of the malleus or incus, despite wide erosion of the vestibule and lateral semicircular canal. This finding would be enough to suggest the presence of pathology other than cholesteatoma. The patient refused exeresis of the neuroma. The authors recognize the difficulty in urging a patient to an operation that surely will result in worsening of the facial function. Follow-up in this case has revealed no change in tumor dimension or facial function over 3 years.
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PMID:Neuroma of the facial nerve masked by chronic otitis media. 857 58

Twitch force and Na+ currents were investigated in a muscle biopsy specimen from a patient with paramyotonia congenita carrying the dominant Arg-1448-Pro mutation in the skeletal muscle sodium channel. Cooling of the muscle fibers caused sustained membrane depolarization that resulted in reduced twitch force. Membrane repolarization, produced by a K+ channel opener, partly prevented and antagonized the drop in twitch force. Patch-clamp recordings on sarcolemmal blebs revealed a distinctly slower Na+ current decay on paramyotonia congenita muscle compared to control muscle. In addition, patches with mutant Na+ channels showed a significantly higher frequency of steady-state openings, which increased with cooling. Activation of mutant channels was not affected, whereas the steady-state inactivation curve was shifted by -5 mV and showed less voltage dependence. We suggest that the weakness of cooled muscle can be explained by a combination of the increased steady-state Na+ current and the left-shifted inactivation curve.
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PMID:Paramyotonia congenita: the R1448P Na+ channel mutation in adult human skeletal muscle. 861 45

We report a unique case of KAS syndrome presenting as hypersexuality and elevated serum creatine kinase (CK). None of the other members of the patient's family had KAS. The patient had engaged in sexual behavior 4 approximately 5 times a week since his marriage. He did not have gynecomastia or hepatomegaly. Neurological examination revealed facial twitching and tongue atrophy and fasciculations. Mild to moderate muscular atrophy and weakness were evident in the proximal portion of the upper and the distal portion of the lower extremities. Deep tendon reflexes were absent, as were sensory disturbance and sphincter dysfunction. Laboratory data showed mild elevation of transaminase (GOT 113 U/L, GPT 69 U/L) and extreme elevation of CK (4,600 U/L) in serum. Electromyography and muscle biopsy from the left biceps showed chronic neurogenic atrophy. Genetic analysis showed increased expansion of a CAG repeat (44 repeats) in exon 1 of the androgen receptor gene. We diagnosed KAS syndrome based on the genetic analysis. This case is important in illustrating the clinical varieties of KAS syndrome, as well as the importance of genetic analysis in KAS syndrome cases presenting with atypical manifestations and without a family history.
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PMID:[A case of Kennedy-Alter-Sung (KAS) syndrome presenting as hypersexuality and elevated serum CK: usefulness of genetic analysis]. 874 52

This study investigated the frequency and severity of symptoms during naturally occurring panic attacks recollected as "usual" and during sodium lactate-induced attacks. Seventy-six male and 126 female patients with panic disorder or agoraphobics with panic attack (DSM-III criteria) underwent lactate infusion studies and were serially administered the Acute Panic Inventory (API). Fifty-nine percent of the subjects were rated by an attending psychiatrist to have experienced lactate-induced panic attacks. Patients were also asked to API symptom rate their "usual" panic attacks. For panic recollected as usual, the most frequently reported symptoms (> or = 75%) at the moderate to severe levels included: afraid in general, difficulty concentrating, difficulty performing a job, desire to flee, afraid of losing control, palpitations, feeling hot or cold or both, dyspnea, dizzy-lightheaded. During lactate infusion, 25 of 29 API symptoms increased significantly from prelactate to point of panic; however, particularly robust effect sizes were exhibited for the desire to flee, dyspnea, tingling, twitching/trembling and difficulty doing a job. Comparison of panic recollected as usual and lactate-induced panic showed that more than half of the symptoms did not differ after Bonferroni correction; however, the most notable were fear in general, dyspnea, chest pain/discomfort, difficulty swallowing, feeling weak, desire to flee, and feeling hot/cold or both. These data point to a very distinctive role during both recollected and lactate-induced panic attacks for fearfulness the desire to flee (by definition), and for dyspnea, difficulty performing a job and fear of losing control. During lactate-induced panic, dyspnea exhibited the most robust effect size of all physical symptoms.
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PMID:Consistencies between recalled panic and lactate-induced panic. 916 May 44

Primary hyperparathyroidism, characterized by hypersecretion of parathyroid hormone (PTH) leading to hypercalcemia and relative hypophosphatemia, is quite common in the elderly. Most patients with primary hyperparathyroidism have only mild hypercalcemia and are symptomless. But others experience various other organ diseases. Primary hyperparathyroidism is also associated with cardiovascular abnormalities, including QT interval shortening, heart block, cardiac arrhythmias, hypertension, myocardial hypertrophy, myocardial calcification and, though rarely, with valvular heart disease. We described a case of primary hyperparathyroidism associated with cardiac abnormalities. An 82-year-old male presented with the complaints of chest discomfort, fatigue, general weakness, nausea and vomiting over a period of months and was admitted in July 1996. Physical examination with heart auscultation showed a pansystolic murmur over the right sternal border and apex region, and a blowing diastolic murmur over the left sternal border. Biochemistry profiles revealed elevations of serum calcium (14.3 mg/dl) and chloride/phosphate ratio (> 33). Endocrinological studies showed elevations of serum PTH-C (4.8 ng/ml) and PTH-intact (705 pg/ml) concentrations. Kidney ultrasonography revealed a left renal stone. A spine X-ray revealed spondylosis and a compression fracture of the lumbar-spine with osteoporotic change. Thyroid ultrasonography and Thallium (Tl201)-technetium (Tc99m) subtraction scan showed parathyroid adenoma in the low pole of the right thyroid bed. Parathyroid aspiration cytology revealed few and discrete cells. Echocardiogram revealed moderate to severe aortic valvular calcification as well as stenosis with moderate aortic regurgitation, mitral regurgitation and myocardial calcification. The patient received parathyroidectomy one month later. During his postoperative days, he suffered from muscle twitching with positive Trousseau's sign and Chvostek's sign. The patient received calcium carbonate and vitamin D for hypocalcemia, diltiazem and capoten for his heart problems. A repeated echocardiogram two months after surgery showed no improvement of valvular calcification.
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PMID:Primary hyperparathyroidism with cardiac abnormalities: a case report. 950 84

This study reports on a girl with a permanent cerebral lesion and opercular syndrome after status epilepticus (SE). She had previously been healthy and had her first focal motor seizure at 5 years of age, which was controlled with intravenous phenytoin and rectal diazepam. Twenty-four hours later, she developed partial SE consisting of right facial twitching and right-hand clonic movements. These uncontrollable seizures lasted for 5 days, after which the partial SE changed to generalized SE, and the seizures continued for another 5 days. CT performed the day before onset of SE revealed no brain abnormality. Another CT performed a year later disclosed bilateral brain lesions, more severe in the left hemisphere. Follow up at 16 years of age revealed moderate motor sequelae of the right-hand side of the body, anarthria, difficulty chewing, dysphagia, bilateral facial weakness, and drooling, all of which clinically characterize opercular syndrome. An MRI study performed at 14 years of age showed a cerebral parenchymatous lesion which extended between the parietal cortices of both hemispheres, more severe on the left side, and which crossed the corpus callosum, destroying the posterior-middle zone. Evidence from the CT indicates that the lesion was not present before onset of SE. It seems likely that the focal SE caused the focal brain damage, but the possibility that the subsequent generalized SE played a role cannot be excluded.
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PMID:Status epilepticus-induced brain damage and opercular syndrome in childhood. 1087 32

Theophylline toxicity has been recognized since its introduction into clinical medicine. Clarithromycin is a new oral macrolide antibiotic with excellent antibacterial activity and rare adverse effect. Patients with upper respiratory infection are often treated with theophylline and clarithromycin concurrently. We report a case of acute renal failure due to acute rhabdomyolysis caused by the interaction of theophylline and clarithromycin. A 72-year-old man visited our hospital because of coughing and a sore throat continuing for 1 week. He was diagnosed as having the common cold with a bronchial asthmatic symptom and was prescribed 200 mg/day of sustained-release theophylline for the treatment of asthma for 7 days. One week later, he visited our hospital again. Radiographic study of the chest revealed mild interstitial pneumonia and 200 mg/day of sustained-release theophylline and 400 mg/day of clarithromycin were administrated concomitantly. Five days after the second visit, the patient was admitted to our hospital because of generalized twitching, muscular weakness, high fever and serious general condition. He experienced generalized muscular twitching and tremor. Blood urea nitrogen was 106.1 mg/dl, serum creatinine was 7.4 mg/dl, serum creatinine kinase (CK) was 36,000 IU/l (normal 15-130 IU/l), CK isozyme revealed the following ratio: BB 0%, MB 1% and MM 99%. He was diagnosed as having acute renal failure with rhabdomyolysis caused by the interaction of theophylline and clarithromycin. Hemodialysis therapy was started. After 5 weeks, his serum creatinine was markedly decreased. It is well-known that clarithromycin enhances the serum concentration of theophylline by inhibition of the cytochrome P450-dependent pathway in hepatocytes. Theophylline toxicity may be enhanced when clarithromycin is administrated concomitantly, especially to elderly patients with dehydration.
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PMID:[A case of acute renal failure with rhabdomyolysis caused by the interaction of theophylline and clarithromycin]. 1044 97

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.
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PMID:Distinguishing clinical and electrodiagnostic features of X-linked bulbospinal neuronopathy. 1056 82

Neuromyotonia (Isaacs syndrome) is a rare and heterogenous syndrome of continuous motor unit activity of peripheral nerve origin that manifests as various combinations of muscle stiffness, cramps, twitching, weakness, and delayed muscle relaxation. Although neuromyotonia may accompany an assortment of inherited diseases, most cases are acquired. The observation that the acquired form is often associated with an autoimmune disorder, and the demonstration that some cases improve after plasma exchange, has led to a search for an immune-mediated etiology. This review summarizes the recent immunological and electrophysiological evidence that autoantibodies to voltage-gated potassium channels produce the peripheral motor nerve hyperexcitability that characterizes neuromyotonia and thus establishes acquired neuromyotonia as an autoantibody-mediated disorder. In the nervous system, ion channels and neurotransmitter receptors that function as ligand-gated ion channels seem to be favored targets for autoantibody attack, and neuromyotonia can now be added to the growing list of autoimmune channelopathies.
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PMID:Acquired neuromyotonia: a new autoantibody-mediated neuronal potassium channelopathy. 1076 5


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