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)

Lower extremity symptoms are caused by lesions at any level of the neuraxis, from cortex to muscle. HIV affects virtually every level of the nervous system, either directly or indirectly. The presence of pathology at multiple levels and by multiple processes further complicates the bedside diagnosis of a patient with AIDS and neurologic symptoms. Many neuropathies and other conditions that affect the lower extremities can be identified with careful history and physical examination, confirmed with limited testing, and can be treated successfully. Distal symmetric polyneuropathy is the most common lower extremity disorder, but it must be distinguished from similar-appearing neuropathies caused by medications, B12 deficiency, or vasculitis. Diffuse infiltrative lymphocytosis syndrome also causes a painful peripheral neuropathy that must be distinguished from distal symmetric polyneuropathy. Inflammatory demyelinating polyneuropathies are characterized by muscle weakness. They occur in early, asymptomatic HIV infection and respond to plasmapheresis or steroids. Mononeuropathies in patients with CD4 counts more than 200 often resolve on their own. Multiple mononeuropathies, which occur in patients with CD4 counts less than 50, are often associated with cytomegalovirus infection and may follow a rapidly progressive course unless treated promptly and aggressively. Progressive polyradiculopathy occurs late in the course of AIDS, is often caused by cytomegalovirus, is rapidly progressive, and generally is fatal unless recognized and treated promptly. Muscle weakness, myalgia, and fatigue are common in HIV and have multiple causes. Lower extremity spasticity may be caused by treatable etiologies such as spinal cord abscess, tumor, disc compression, B12 deficiency, or ischemia. Gait disturbances are common but nonspecific and may be caused by treatable neurologic disorders at any level of the neuraxis.
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PMID:Neurologic problems of the lower extremity associated with HIV and AIDS. 957 54

The current mainstay of treatment in glycogen storage disease type I (GSD I) is dietary management that includes providing a frequent source of glucose to prevent hypoglycaemia. To ensure compliance, routine follow-up by a health care team, including a dietitian, experienced in the treatment of GSD is necessary. We describe an adolescent patient with GSD Ib in good metabolic control who was admitted with a 3-month history of weakness, depression, vomiting, decreased appetite and a 11.4-kg weight loss. He had a recent onset of unsteady gait, inability to write, and sore mouth. After an extensive work-up, the patient was found to have vitamin B12, folate, iron and other nutritional deficiencies, which explained his symptoms. The patient improved within 72 h of initiation of total parenteral nutrition and therapeutic doses of deficient micronutrients, with a complete recovery in 2 months. Dietary restrictions, dependence on non-food products (e.g. cornstarch in GSD I), and social and developmental issues place individuals with metabolic disorders at a high risk for developing an array of nutritional deficiencies. This case highlights the importance of both close follow-up of the metabolic control and close monitoring of growth and nutritional intake in individuals with inborn errors of metabolism. This case also illustrates the importance of daily supplementation with appropriate multivitamins, calcium and other minerals needed to meet the Recommended Dietary Allowances (RDAs) in these patients.
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PMID:Nutritional deficiencies in a patient with glycogen storage disease type Ib. 1051 79

AIDS-associated vacuolar myelopathy (VM) is a common neurologic complication of AIDS. Pathologically, VM is characterized by vacuolization in the lateral and posterior columns of the thoracic spinal cord and has a striking similarity with the myelopathy of vitamin B12 deficiency. In autopsy series, 20% to 55% of patients with AIDS have evidence of spinal cord disease consistent with VM. The myelopathy usually manifests late in the course of HIV infection, with slowly progressive weakness of the lower extremities, gait disorder, sensory abnormalities in the legs, impotence in men, and urinary frequency and urgency. Its course is invariably progressive and leads to severe paralysis of the lower limbs, with loss of the ability to walk and of sphincter control. The differential diagnosis is extensive and includes metabolic, infective, and neoplastic spinal cord diseases. The diagnosis is based on the clinical observation and the exclusion of other causes of myelopathy via serologic, radiographic, and cerebrospinal fluid studies. The pathogenesis of VM is unknown. Attempts to detect HIV in the spinal cord have not yielded significant results, and there is no evidence of a relationship between the presence of HIV and the development of myelopathy. A metabolic disorder of the vitamin B12-dependent transmethylation pathway, induced by HIV or cytokine activation, is considered the possible cause of VM associated with AIDS. There is no known treatment for AIDS myelopathy and there is no evidence that antiretroviral drugs can improve the symptoms or slow the progression of VM. The symptomatic treatment includes antispasticity agents, management of sphincter dysfunction, and physical therapy. Experimental treatments are being tested in clinical trials.
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PMID:AIDS-associated vacuolar myelopathy. 1136 93

Pernicious anaemia is the most common cause of cobalamin deficiency. Nervous disorders associated with cobalamin deficiency are neuropathy, optic atrophy, dementia and myelopathy (subacute combined degeneration). In this case, symptoms are those of posterior and lateral column dysfunction of the spinal cord, with diminished vibratory sensation, ataxia, weakness of limbs, hyperreflexia, extensor plantar response and spasticity. Macrocytosis and anaemia are often lacking. There is an inverse correlation between the degree of anaemia and the extent of nervous impairment. The most sensitive tool for the diagnosis of cobalamin deficiency is the serum cobalamin level. But a normal cobalamin assay does not fully exclude cobalamin deficiency. Levels of serum methylmalonic acid and total homocysteine are useful as ancillary tests in the diagnosis. Treatment is based on intramuscular injections of vitamin B12.
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PMID:[Pernicious anemia]. 1150 92

A 52 year old man was admitted for hospitalization due to dizziness and weakness that appeared in the previous 2 weeks. Anemia and thrombocytopenia, as well as elevated levels of lactic dehydrogenase, reticulocytosis and schistocytes on blood smear, all suggested thrombotic thrombocytopenic purpura. However, B12 deficiency was also diagnosed. The diagnosis of pernicious anemia was reassured by both fundic biopsy and the existence of antiparietal cells antibodies and anti-intrinsic cells antibodies. A few courses of plasmapheresis along with parenteral B12 stabilized his physical condition and he was released with no need for further treatment, and only required ambulatory follow-up.
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PMID:[An unusual coincidence of thrombotic thrombocytopenic purpura and pernicious anemia]. 1222 31

A 55 year old male presented 2 years after a jejuno-iliectomy with weakness of all limbs, paraesthesiae, and difficulty in walking. Clinical examination revealed loss of posterior column sensations. Investigations were suggestive of a deficiency of vitamin B12 and folate. MRI showed a band of hyperintensity on T2 image, in the dorsal portion of the spinal cord.
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PMID:MRI findings in cobalamin deficiency. 1246 29

The aim of this brief report is to stimulate a debate and to advocate life-long treatment with phenylalanine restricted diet to persons with phenylketonuria. We present a case of an adolescent male who today is a 65 year old with moderate mental retardation. He was previously observed as having severe challenging and self-injurious behaviour, sleeping disorder, hyperactivity, and masturbation. In the last year before reassessment he displayed loss of weight, muscle weakness resulting in wheelchair placement, upper respiratory infections, and fungal skin infections. After reassessment in 1998 the patient was started on treatment with a phenylalanine-restricted diet supplemented with vitamin B12, iron, and folic acid. At follow-up one year later the patient had regained his weight and was walking around freely. The challenging and self-injurious behaviour, and the masturbation, had ceased, and he was participating in social activities which he had previously not been able to participate in. At follow-up four years later he was still at this level of accomplishment. In general, this patient's quality of life had increased. We therefore recommend life-long treatment with phenylalanine restricted diet for persons with previously treated, and also for those with untreated, phenylketonuria.
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PMID:Phenylalanine-restricted diet should be life long. A case report on long-term follow-up of an adolescent with untreated phenylketonuria. 1295 19

A 40-year-old woman was admitted to our hospital because of pancytopenia with megaloblastic anemia. Two months later she complained of rapidly progressive gait disturbance and numbness in the distal part of limbs. She also told that her hair had turned totally gray in the third decade. Neurologically, mental state, cranial nerves and cerebellar functions were normal. Superficial sensations were impaired below the lower thoracic level and deep sensations were completely lost in the lower limbs. Moderate weakness was found in the lower limbs, symmetrically. Deep tendon reflexes were diminished in the upper limbs and absent in the lower limbs. Babinski's reflex was positive bilaterally. MR images of the spinal cord showed hyperintensity in the posterior column below the thoracic cord. Although the serum level of vitamin B12 was within normal range, serum homocysteine level was elevated markedly. Under the diagnosis of subacute combined degeneration (SCD) due to possible vitamin B12 deficiency, the treatment with intravenous injections of 500 micrograms/day of mecobalamin was undertaken. Muscle strength and sensory impairment improved progressively and she became able to walk with a cane. The coloration of her gray hair was also noted. After treatment, pancytopenia and megaloblastic anemia also markedly improved. Vitamin B12 became high in serum concentration and the serum level of homocysteine became normal. These clinical and laboratory findings support the diagnosis of SCD with normal serum level of vitamin B12 in our case, suggesting that the level of vitamin B12 in serum does not always correlate with that in tissue and, therefore, SCD should not be excluded just only by the reason of normal serum vitamin B12 level.
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PMID:[A case of subacute combined degeneration with normal serum vitamin B12 level]. 1472 62

A 64-year-old woman underwent open-heart surgery for repair of atrial septal defect (ASD) and tricuspid valve regurgitation. Preoperative complications included rheumatoid arthritis with pain in both wrists treated with methotrexate. Following smooth endotrachial intubation, a pulmonary arterial (PA) catheter was inserted into the right jugular vein after several attempts. She was placed in a supine position with abduction of the shoulders to approximately 90 degrees and of the elbows to 60 degrees. Operation was performed through sternum splitting to second intercostal space, and the 4-h intraoperative course was uneventful. On the first postoperative day, she complained of inability to raise her right arm. Neurological examination revealed marked weakness of the deltoid and biceps brachialis muscles, and decreased sensitivity around the right shoulder. Iatrogenic brachial plexus injury was diagnosed. Administration of vitamin B12 and physical therapy were instituted. Symptoms improved gradually and had disappeared by 3 months postoperatively. Neuropathy might be attributed to stretch and compression of the brachial plexus caused by traction of the pectoralis minor muscle enhanced by sternotomy and/or malposition of the upper extremity, or direct injury due to cannulation of the PA catheter into the internal jugular vein.
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PMID:[Brachial plexus neuropathy following open-heart surgery]. 1516 Jun 68

A 32-year-old male presented with progressive weakness and numbness of both upper limbs of one-month duration. The patient had weakness and wasting of small muscles of both hands with weak grip. Sensory system revealed graded sensory loss to pain, temperature and touch in C5 to T1 distribution and vibration and joint position sense from C5 to C8 in the both upper limbs. There was areflexia in the upper limbs while there was no motor or sensory deficit in the lower limbs. The cortical potential on stimulation of posterior tibial nerve was prolonged on both sides. On MR imaging of the cervical spine there was iso to low intense lesion which was hyperintense on T2-weighted imaging along the dorsal aspect of the cord extending from C2 to C6 level. The axial images showed involvement of the posterior column. The serum vitamin B12 level was found to be low. The patient responded to parenteral cyanocobalamine therapy and the radiological lesion subsequently resolved.
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PMID:Syringomyelia-like manifestation of subacute combined degeneration. 1526 Dec 51


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