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)

Multifocal motor neuropathy (MMN) and some lower motor neuron syndromes are immune-mediated and treatable. These motor syndromes produce weakness that is typically distal and asymmetric, involves the arms early in the course of disease, and progresses slowly. Electrophysiologic abnormalities often include evidence of demyelination, especially focal conduction block, selectively on motor axons. High titers of serum IgM binding to GM1 ganglioside, alone or in a membrane environment, occur in 80-90% of patients with MMN. Treatments for MMN that commonly produce increased strength include IV human immune globulin (HIG) and cyclophosphamide. After an initial treatment with 2 g/kg of HIG, up to 80% of patients with MMN show short-term improvement. Long-term HIG treatment is useful in 60% of MMN patients and has few side effects but is costly. Intravenous cyclophosphamide treatment is effective in 70% of MMN patients but has significant toxicity, and is reserved for patients who have severe disease and do not respond adequately to HIG.
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PMID:Multifocal motor neuropathy: diagnosis and treatment. 985 26

True neurogenic radial tunnel syndrome is an uncommon condition caused by entrapment of the radial or posterior interosseous nerve in the radial tunnel and is usually easily identifiable by focal motor weakness in the distribution of the posterior interosseous nerve. Roles and Maudsley, analogizing to carpal tunnel syndrome, believed "radial tunnel syndrome" had a different presentation: proximal forearm pain and tenderness in the region of the supinator muscle. However, their patients lacked weakness or other neurologic deficit. They and subsequent surgeons have decompressed the radial nerve to treat forearm pain and tenderness, even though it is debatable whether radial nerve entrapment causes the forearm discomfort. The term "radial tunnel syndrome" is best reserved for the truly neurogenic cases. Surgical approaches to "persistent tennis elbow" should be assessed in a controlled fashion, rather than adopted on the basis of a flawed analogy to carpal tunnel syndrome.
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PMID:Disputed radial tunnel syndrome. 1039 21

This retrospective study of 12 patients with syringomyelia related to spinal cord trauma with paraplegia or tetraplegia and secondary progressive neurologic deficits was conducted to evaluate various surgical treatments. Judging by the results of postoperative neuroradiologic examinations, 75% had incomplete reduction of the spinal fracture at the time of initial surgery. The secondary neurologic deterioration occurred within a delay of 146 +/- 16 months and included ascending sensory deficits in 92%, deafferentation pain in 83%, and increased motor weakness in 33%. There was a positive correlation between the severity of symptoms, incomplete reduction of spinal fracture, and the degree of arachnoid scarring in preoperative neuroradiologic examinations. Syringoperitoneal shunting was performed in 83% of patients, and laminectomy with arachnoid lysis and dural grafting were performed in 17%. Pain was improved in 75%, sensory deficits in 25%, and motor weakness in 8%. During the follow-up period of 44 +/- 25 months, 30% of patients with syringoperitoneal shunting required repeated operation for obstruction or infection, whereas the syringomyelia remained collapsed in the two patients with laminectomy with arachnoid lysis and dural grafting, but this did not require additional surgery. In conclusion, laminectomy with arachnoid lysis and dural grafting seems to be a promising alternative treatment for patients with secondary neurologic deterioration after traumatic paraplegia or tetraplegia. Syringoperitoneal shunting may be reserved for patients without severe arachnoid scarring.
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PMID:Treatment of syringomyelia after posttraumatic paraparesis or tetraparesis. 1059 90

Tumor-induced osteomalacia is characterized by paraneoplastic defects in vitamin D metabolism, proximal renal tubular functions, and phosphate transport. The resulting hypophosphatemia can cause generalized pain and muscle weakness, which significantly affect the quality of life of the patients. Palliative treatment with calcium, vitamin D, and phosphate replacement is indicated for patients in whom the causative tumor cannot be completely resected. In this report we describe a case of tumor-induced osteomalacia in whom adequate oral doses of phosphate could not be used because of gastrointestinal side-effects. Long term (3-6 months) iv phosphate infusion delivered by ambulatory infusion pumps in combination with oral calcium and vitamin D was used successfully to decrease pain and increase muscle strength. Careful monitoring of serum calcium, phosphate, and creatinine levels and reliable microinfusion technology have allowed the long term use of iv phosphate infusion without serious morbidity. This patient received repeated (three times) phosphate infusions over 8 yr, resulting in laboratory and symptomatic improvement after each course. However, this patient did suffer two episodes of central venous catheter-related infection. Because of potentially serious complications, such as severe hypocalcemia, calcified right ventricular thrombi, and nephrocalcinosis, long term iv phosphate infusion should be reserved for patients who cannot tolerate adequate doses of oral phosphate and for whom the benefits outweigh the risks.
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PMID:Use of long-term intravenous phosphate infusion in the palliative treatment of tumor-induced osteomalacia. 1069 Aug 54

The term ocular myasthenia gravis refers to the disease clinically restricted to extrinsic ocular muscles. It can be disabling as ptosis, and to a greater extent diplopia, both interfere with daily activities. Although ocular disturbances are the most frequent initial complaints in myasthenic patients, symptoms usually progress to generalized disease and only 15% of patients complain of purely ocular weakness for the entire course of their illness. Secondary generalization occurs with the highest frequency in the first 2 years from the onset. Both the severity of symptoms and the risk of generalization should be taken into account when devising a therapeutic plan for these patients. Anticholinesterases are of limited efficacy and a considerable proportion of patients require additional therapy. Corticosteroid therapy, generally prednisone on an alternate-day schedule, is very effective, but a reason for concern is represented by the frequent need for long-term administration with increased risk of severe complications. In patients unresponsive to prednisone or requiring too high dosages, immunosuppressive drugs like azathioprine should be used with the same criteria applied in generalized myasthenia. As corticosteroids and immunosuppressants reduce the chance of generalization, their use is justified in patients with recent-onset disabling disease. In long-standing cases with low risk of generalization, treatment is aimed at the relief of symptoms and pharmacological therapy should be reduced to the minimum effective dosage. The indication for thymectomy in ocular myasthenia remains highly controversial and should be reserved for disabled patients in the early stages of the disease.
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PMID:Therapeutic options in ocular myasthenia gravis. 1125 79

Myotonic dystrophy (MD) is an autosomal dominant inherit disease, slowly progressive, involving multiple organ systems. Disorders at any level of the gastrointestinal tract are relatively common and manifest as disturbances in motility, such as impaired esophageal transport, delayed gastric emptying, and megacolon. A 51 years-old man was admitted to our surgical department with obstructive symptoms. Diagnostic evaluation showed megacolon and the typical clinical features of the MD, such as weakness, myotonia, frontal baldness and testicular atrophy. Risk of perforation and dehydration led to emergency total colectomy with ileorectal stapled anastomosis. The patient didn't suffer for compliance related to surgical treatment but, after 1 month in intensive care, died of pneumonia and myocardial infarct. The overall frequency of perioperative complications in patients with MD ranges from 8.2 to 42.9%. The risk of perioperative pulmonary complications is particularly high. Thus, we believe that the conservative treatment of motility disorders of the bowel in patients with MD is to be justified and that surgical treatment should be reserved, as last resort, performing a early diagnosis and careful monitoring during perioperative period.
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PMID:[The megacolon in myotonic dystrophy: case report and review of the literature]. 1134 27

Carpal tunnel syndrome is a common disorder characterised by the classical symptoms of numbness and paraesthesiae along the distribution of the median nerve. Thenar muscle weakness is a late manifestation of advanced disease. Tinel's and Phalen's signs are helpful in suggesting the diagnosis. The symptoms and signs arise from entrapment of the median nerve. Electrophysiological tests are helpful in confirming the diagnosis and magnetic resonance imaging may be used in the diagnosis of atypical cases. Ergonomic manoeuvers and steroid injections may alleviate symptoms in mild cases. Surgery is reserved for severe cases and those who do not respond to conservative therapy. Open carpal tunnel release is the classical surgery with usually excellent results. Endoscopic carpal tunnel release surgery was introduced to decrease the morbidity of open surgery. This latter technique also has its complications and is still being refined.
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PMID:Carpal tunnel syndrome: modern diagnostic and management techniques. 1151 Apr 6

The use of prosthetic material for hernia repair is steadily increasing although some surgeons consider this excessive. This shift in surgical practice seems inevitable given the advantages of mesh prosthetic repair, but one may wonder about the amount of prosthetic material left in place which varies widely from one technique to another. While it may be impossible to determine the ideal size of a mesh, it is nevertheless useful to evaluate the relative advantages and drawbacks of techniques using meshes of different sizes. This study provides some elements of reflection based on anatomical, technical, and clinical data. The myo-pectineal orifice of Fruchaud is divided in two parts by the ilio-pubic tract. While the lower part is occupied by the femoral nerve and vessels and the lacunar ligament, the upper part contains the zone of weakness through which most groin hernias protrude. This area is small in size and can be covered by a mesh 8-9 cm long and 5-6 cm wide. There is no difference in the rate of recurrence of repairs using a wide preperitoneal mesh and those using a smaller onlay mesh. The theoretical advantage of a wide preperitoneal mesh is to prevent the possible occurrence of a femoral hernia. Given the rarity of femoral hernia, this advantage must be balanced against the drawbacks of this technique which include the need for general anesthesia, a higher incidence of early postoperative complications, and particularly a higher risk of late complications due to adhesion of the mesh to bladder and iliac vessels. Small onlay mesh prostheses are preferrable in most cases; the use of a wide preperitoneal mesh should be reserved for those cases of inguinal hernia at high risk of recurrence, particularly if bilateral.
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PMID:[Inguinal hernia: what is the optimal size of prosthetic patch?]. 1241 Jan 24

This report deals with 3 cases of internal auditory canal metastasis, an extremely rare lesion, few cases having been reported in the international literature. Since pre-operative diagnosis is fundamental in the planning of a correct therapeutic strategy, it is important that the neurotologist be aware of the possibility of their occurrence in this particular area. Metastasis can occur unilaterally as well as bilaterally; the latter being the case in 1 of the patients described herein. Correct pre-operative diagnosis is particularly difficult in patients in whom the primary tumour has not been detected at the time of identification of the lesion in the internal auditory canal. The only characteristic, specific of metastasis, is the presence of multifocal cerebral lesions. However, these were detected in only 1 of the present cases. On the contrary, in cases of a single metastasis, both magnetic resonance imaging and computed tomography usually fail to show any distinctive feature when compared to the most common tumours of the internal auditory canal (vestibular schwannomas and meningiomas). Bilateral metastases can also be misdiagnosed as neurofibromatosis type 2. Clinical data that should alert the clinician are: rapidly progressive sensorineural hearing loss, followed by onset of progressive facial nerve weakness. Radiotherapy and/or chemotherapy are the two main treatment modalities, while surgical removal is reserved for selected cases of a single metastasis. Albeit, due to the paucity of specific radiological and clinical characteristics, surgical removal is often necessary to reach the correct diagnosis, as occurred in 2 of the present patients.
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PMID:Internal auditory canal metastasis. 1546 96

Most central neurocytomas (CN) and spinal neurocytomas (SN) have a bland well-differentiated histologic picture and uneventful clinical course. However, rare examples showing histologic atypia, recurrence and even CSF dissemination have been reported. Herein we report a case of recurrent spinal neurocytoma in a 24-year-old male who presented with a 2-month history of weakness and numbness of the left upper and lower limbs, and was previously operated at the same site 10 months ago. MRI revealed a contrast enhancing intramedullary mass involving C5-T1 region. Radiologic and operative impression at both surgeries was that of a glioma, possibly anaplastic. Histologic and immunohistochemical features in both resections were those of an atypical neurocytoma. The tumor showed rare mitoses, focal mild vascular proliferation in both specimens, and necrosis in the initial specimen. MIB1 labeling indices were 9 and 10%, respectively. Based on the analysis of this case and limited data from the literature, it is hypothesized that SN shows a histopathologic picture, immunoprofile and biologic behavior very similar to CN. However, the presence of histologic atypia and increased MIB1 index in SN appear to more closely correlate with tumor recurrence and a worse overall outcome, in part due to their location in the critical region of cervical spinal cord. Therefore, we hypothesize that SN with atypia requires a close clinical follow up. As in CN, radiation therapy is perhaps best reserved for atypical, progressive and recurrent SN.
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PMID:Primary neurocytoma of the spinal cord: a case report and review of literature. 1607 7


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