Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0031117 (peripheral neuropathy)
 10,577 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two patients are described with Charcot-Marie-Tooth disease and chronic peripheral neuropathy. Both had dyspnoea, orthopnoea, and evidence of severe diaphragm weakness. Expiratory muscle function was well preserved and abnormalities of gas exchange during sleep were only minor.
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PMID:Diaphragm weakness in Charcot-Marie-Tooth disease. 342 May 60

A 57-year-old Caucasian man presented with diaphragmatic paralysis and type 2 diabetes. He had severe orthopnea that remained unchanged for 1 year. He was later diagnosed with distal symmetric polyneuropathy and was started on topiramate. Within 26 weeks of treatment, the patient showed improvement in diaphragmatic function and regrowth of intraepidermal nerve fibers, accompanied by improvement in respiratory and peripheral neuropathy symptoms. Topiramate may prove to be an effective agent in the treatment of nonremitting diaphragmatic paralysis and regrowth of intraepidermal nerve fibers.
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PMID:Reversal of phrenic nerve palsy with topiramate. 1718 76

A 75-year-old woman presented with dyspnea on exertion, orthopnea, paroxysmal nocturnal dyspnea, and edema. Macroglossia, generalized petechiae, raccoon eyes sign, and peripheral neuropathy were present, and an echocardiogram showed cardiac dilatation and left ventricular systolic dysfunction. Rectal biopsy and immune fixation electrophoresis confirmed the diagnosis of AL amyloidosis.
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PMID:A case of dyspnea and periorbital rash. 2275 27

Vitamin B12 deficiency causes a wide range of hematological, gastrointestinal, psychiatric and neurological disorders. Hematological presentation of cobalamin deficiency ranges from the incidental increase of mean corpuscular volume and neutrophil hypersegmentation to symptoms due to severe anemia, such as angor, dyspnea on exertion, fatigue or symptoms related to congestive heart failure, such as ankle edema, orthopnea and nocturia. Neuropsychiatric symptoms may precede hematologic signs and are represented by myelopathy, neuropathy, dementia and, less often, optic nerve atrophy. The spinal cord manifestation, subacute combined degeneration (SCD), is characterized by symmetric dysesthesia, disturbance of position sense and spastic paraparesis or tetraparesis. The most consistent MRI finding is a symmetrical abnormally increased T2 signal intensity confined to posterior or posterior and lateral columns in the cervical and thoracic spinal cord. Isolated peripheral neuropathy is less frequent, but likely overlooked. Vitamin B12 deficiency has been correlated negatively with cognitive functioning in healthy elderly subjects. Symptoms include slow mentation, memory impairment, attention deficits and dementia. Optic neuropathy occurs occasionally in adult patient. It is characterized by symmetric, painless and progressive visual loss. Parenteral replacement therapy should be started soon after the vitamin deficiency has been established.
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PMID:Cobalamin deficiency: clinical picture and radiological findings. 2424 13

Ipilimumab is a monoclonal antibody used in the treatment of unresectable or metastatic melanoma. Several immune-related adverse events including potential fatal events have been reported following its use. We report a case of a 66-year-old man who presented with severe acute exertional dyspnea and orthopnea following administration of ipilimumab for metastatic melanoma. Although various peripheral neuropathy syndromes associated with ipilimumab have been reported, bilateral phrenic nerve paralysis has not been previously reported. This case also highlights the clinical features of bilateral phrenic nerve neuropathy. Pulmonologists have to be aware of these unusual immune-related respiratory adverse events in patients being treated with monoclonal antibodies.
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PMID:Severe Acute Orthopnea: Ipilimumab-Induced Bilateral Phrenic Nerve Neuropathy. 2595 28