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)

Surgical treatment of hemifacial spasm associated with tortuous vertebrobasilar system was reported. A patient was 63-year-old female, who first experienced mild and intermittent muscle twitching around her left eye twenty years prior to admission. Five years later, the twitching extended to all the facial muscles on the left side. She was treated with facial nerve block, which resulted in facial palsy for about one year. Because of recurrence of the hemifacial spasm, she was admitted to the Neurosurgical Department of Bokuto Municipal Hospital on October 12, 1977. Neurological examination revealed no abnormalities except for left hemifacial spasm with slight muscular weakness. Electromyogram showed severe twitching and synkinesis of all the muscles of facial expression. Vertebral angiogram on the left side disclosed pronounced elongation of the vertebral and basilar arteries, which extended into the left cerebellopontine angle. Compression of the facial nerve root exit zone at the brainstem by the vertebral artery was considered to be the cause of the hemifacial spasm. Suboccipital craniectomy was carried out on November 29, 1977. The vertebral artery extended into the cerebellopontine angle, and adhered to the facial nerve. After mobilization of the vertebral artery from the facial nerve, a small prosthesis of non-absorbable spongy material (Teflon felt) was interposed between the vertebral artery and brainstem. Postoperatively, the hemifacial spasm disappeared, but the facial palsy, which had been observed preoperatively probably due to previous facial nerve block and long-standing hemifacial spasm, remained. The function of the acoustic nerve was preserved. Recently vascular compression of the facial nerve root exit zone has been reported as a major cause of hemifacial spasm, but such abnormal vessels are rarely demonstrated angiographically.
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PMID:[Surgical treatment of hemifacial spasm associated with tortuous vertebrobasilar system (author's transl)]. 21 27

We have studied two cases of the syndrome of myokymia and impaired muscular relaxation with continuous motor unit activity. Both patients complained of muscle twitching, weakness, stiffness, and hyperhydrosis during their illness. Myokymia was present over the entire body in both. On repetitive testing of muscle strength each patient showed initial fatigue followed by increasing strength as he continued his efforts. Both patinets improved on phenytoin therapy at high blood levels. Nerve conduction velocities were decreased. Electromyograms showed continuous electrical activity at rest which persisted during sleep and spinal anaesthesia but was diminished by curare. Intravital staining with methylene blue in one case demonstrated sprouting and beading of motor nerve terminals with multiple innervation of muscle fibres. The neurophysiological and pathological findings in these two cases indicate an abnormality of peripheral nerve in this disorder.
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PMID:Myokymia and impaired muscular relaxation with continuous motor unit activity. 46 63

Drugs that are administered to man may be biotransformed to yield metabolites that are pharmacologically active. The therapeutic and toxic activities of drug metabolites and the species in which this activity was demonstrated are compiled for the metabolites of 58 drugs. The metabolite to parent drug ratio in the plasma of non-uraemic man and the percentage urinary excretion of the metabolite in non-uraemic man are also tabulated. Those active metabolites with significant pharmacological activity and high plasma levels, both relative to that of the parent drug, will probably contribute substantially to the pharmacological effect ascribed to the parent drug. Active metabolites may accumulate in patients with end stage renal disease if renal excretion is a major elimination pathway for the metabolite. This is true even if the active metabolite is a minor metabolite of the parent drug, as long as the minor metabolite is not further biotransformed and is mainly excreted in the urine. Minor metabolite accumulation may also occur if it is further biotransformed by a pathway inhibited in uraemia. Some clinical examples of the accumulation of active drug metabolites in patients with renal failure are: (a) The abolition of premature ventricular contractions and prevention of paroxysmal atrial tachycardia in some cardiac patients with poor renal function treated with procainamide are associated with high levels of N-acetylprocainamide. (b) The severe irritability and twitching seen in a uraemic patient treated with pethidine (meperidine) are associated with high levels of norpethidine. (c) The severe muscle weakness and tenderness seen in patients with renal failure receiving clofibrate are associated with excessive accumulation of the free acid metabolite of clofibrate. (d) Patients with severe renal insufficiency taking allopurinol appear to experience a higher incidence of side reactions, possibly due to the accumulation of oxipurinol. (e) Accumulation of free and acetylated sulphonamides in patients with renal failure is associated with an increase in toxic side-effects (severe nausea and vomiting, evanescent macular rash). (f) Peripheral neuritis seen after nitrofurantoin therapy in patients with impaired renal function is thought to be due to accumulation of a toxic metabolite. The high incidence of adverse drug reactions seen in patients with renal failure may for some drugs be explained in part, as the above examples illustrate, by the accumulation of active drug metabolites. Monitoring plasma levels of drugs can be an important guide to therapy. However, if a drug has an active metabolite, determination of parent drug alone may cause misleading interpretations of blood level measurements. The plasma level of the active metabolite should also be determined and its time-action characteristics taken into account in any clinical decisions based on drug level monitoring.
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PMID:Pharmacologically active drug metabolites: therapeutic and toxic activities, plasma and urine data in man, accumulation in renal failure. 79 49

Muscle weakness, studied in 4 patients with multiple sclerosis (MS), was compared with values from normal subjects. Twitch occlusion showed that normal subjects could activate their muscles maximally, but patients rarely achieved greater than 60% activation. In both groups, motoneuron firing rates increased linearly with force. Consistent with the reduced level of activation, MCV firing rates in MS muscles rarely exceeded 17 Hz (compared with approximately 24 Hz for normals). However, for right and left muscles of one patient, mean maximum firing rates were 14.2 +/- 2 Hz and 8.0 +/- 2 Hz, but her muscles, could be activated to levels greater than 92% and 60%, respectively. This patient's ability to achieve higher than expected forces at low firing rates was probably due to her slow muscle contractile speeds, especially 1/2-relaxation time (75 to 115 ms, cf. approximately 60 ms for normals), and high twitch/tetanus ratio (0.4, cf. 0.2).
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PMID:Neuromuscular responses of patients with multiple sclerosis. 140 70

Neuromyotonia is a rare disorder of unknown cause in which hyperexcitability of peripheral motor nerves leads to incapacitating muscle twitching, cramps, and weakness. We investigated an antibody-mediated mechanism for neuromyotonia in a 24-year-old man with a 7-year history of severe disease unresponsive to pharmacological treatment. Two periods of plasma exchange each produced almost complete disappearance of symptoms for 2-3 weeks, and a highly significant decrease in recorded neuromyotonic discharges. Injection of the patient's plasma or purified IgG into mice significantly enhanced in-vitro resistance to d-tubocurarine at the neuromuscular junction of phrenic nerve-diaphragm preparations. This finding suggests that an increase in neurotransmitter release might result from an antibody-mediated reduction in the number of functional potassium channels that normally regulate nerve excitability. The demonstration of pathogenic IgG autoantibodies in acquired neuromyotonia suggests that immunosuppressive treatment may be helpful in severe cases.
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PMID:Autoimmune aetiology for acquired neuromyotonia (Isaacs' syndrome) 168 1

A rare case of hemangioma of the petrous bone is described. A 31-year-old woman suffered from right facial twitching and palsy. So she underwent a craniectomy intending microvascular decompression of the facial nerve, but no compressing vessels or tumors were found. Three years later, however, her facial fasciculation disappeared spontaneously, but facial weakness deteriorated and she began to feel vertigo. On admission, neurological examination revealed right facial palsy of the peripheral type, slight hearing disturbance, and canal palsy. Bone-window CT and T2-weighted MRI revealed a small tumor destroying the petrous bone near the geniculate portion of the facial nerve. Using the epidural subtemporal approach, the tumor was totally removed and the facial nerve remained intact. Histologically it was diagnosed as hemangioma. Hemangioma of the skull base bone is rare, and it is interesting that the tumor in this case caused abnormal facial contraction like hemifacial spasm.
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PMID:[A case report of hemangioma of the petrous bone which caused facial spasm and facial palsy]. 185 54

We describe four men from two kinships affected with X-linked recessive bulbospinal neuronopathy, and one sporadic case. All developed postural tremor, weakness, and fasciculations, with onset from age 25 to 39 years. Weakness began in the pelvic girdle or hands, with dysphagia or dysarthria occurring years later in two. Sensory symptoms were present in only one, who also had diabetes mellitus. In contrast, sural nerve action potentials were small or absent in all. Needle EMG showed widespread chronic partial denervation with reinnervation. The characteristic twitching of the chin produced by pursing of the lips consisted of repetitive or grouped motor unit discharges, rather than fasciculations. Broader awareness of the distinctive features of bulbospinal neuronopathy will probably increase the frequency of its recognition. Diagnosis is important for purposes of providing a prognosis for affected men and genetic counseling for affected families.
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PMID:Clinical and electrodiagnostic features of X-linked recessive bulbospinal neuronopathy. 153 Jul 14

To assess the value of phrenic nerve stimulation in the investigation of diaphragm function, transdiaphragmatic pressures were measured in 20 healthy subjects and in 15 patients with diaphragm weakness, during unilateral and bilateral transcutaneous phrenic nerve stimulation at 1 Hz at functional residual capacity (twitch Pdi). Diaphragm function was initially assessed by measuring transdiaphragmatic pressure during a voluntary manoeuvre, the maximal sniff (sniff Pdi); normal readings were confirmed in the control subjects (102-157 (normal greater than 98) cm H2O in the 10 men, 79-102 (normal greater than 70) cm H2O in the 10 women) and reduced values were found in the 15 patients with diaphragm weakness (7.5-90 cm H2O in the 13 men, 23 and 53 cm H2O in the two women). Twitch Pdi during bilateral phrenic nerve stimulation ranged from 8.8 to 33 cm H2O in the control subjects and from 3.1 to 27 cm H2O in the 10 patients in whom a measurement could be obtained. Bilateral twitch Pdi correlated with sniff Pdi both in the control subjects and in the patients with diaphragm weakness (r = 0.75). Only four patients had a bilateral twitch Pdi below the lowest value seen in the control group, including the three with the lowest sniff Pdi (3.1-8.5 cm H2O). These results indicate that transdiaphragmatic pressure recorded during bilateral phrenic nerve stimulation discriminated between control subjects and patients with known weakness of the diaphragm only when this was severe.
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PMID:Twitch pressures in the assessment of diaphragm weakness. 261 52

Autopsy cases of two brothers with bulbo-spinal muscular atrophy associated with gynecomastia, testicular atrophy and sensory neuropathy are reported. The disease started with finger tremor, proximal muscle weakness and facial muscle twitching at the second and fourth decades, accompanied by bulbar signs and glove-stocking type sensory disturbance. Systemic neurogenic patterns and diminished sensory nerve action potential amplitudes were recorded by electrophysiological studies. A marked loss of myelinated fibers was noticed upon sural nerve biopsy. Gonadal hormone values were normal, except for elevated urinary estrogen. Postmortem examinations revealed a remarkable degeneration of the facial and hypoglossal nuclei, and the spinal cord motoneurons. The skeletal muscles and the tongue showed neurogenic muscular atrophy with fatty replacement. Testicular atrophy was prominent showing hyalinized seminiferous tubuli with nodular and diffuse Leydig cell hyperplasia, containing estrogen immunoreactive substance. These clinical and histological features seemed to be highly compatible with those of Kennedy-Alter-Sung type bulbo-spinal muscular atrophy. The involvement of sensory peripheral nerves, however, was a distinct feature of this family.
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PMID:Familial bulbo-spinal muscular atrophy associated with testicular atrophy and sensory neuropathy (Kennedy-Alter-Sung syndrome). Autopsy case report of two brothers. 321 30

The symptoms include, by ascending order of severity: nightmares and insomnia, nausea and vomiting, muscular weakness or tremor, postural hypotension, hyperthermia, muscle twitching, convulsions, confusional state or psychosis. Prominent features are the late onset of these symptoms, several days after treatment has been discontinued, and the sometimes difficult diagnosis, since patients are usually unaware of their dependence on these drugs. Reinstituting benzodiazepine treatment, then withdrawing it progressively are the best curative measures. Prevention is easy if treatment is gradually rather than abruptly withdrawn in all patients who receive the compound in high dosage for more than one month.
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PMID:[Benzodiazepine physical dependence. 6 cases (author's transl)]. 610 22


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