Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Increasing numbers of patients are being recognized with neurological abnormalities associated with the immunochemical changes of plasma cell disease. To illustrate the wide spectrum of clinical disorders that can be found, I discuss in detail 5 patients: 2 with neuropathy, 3 with amyotrophic lateral sclerosis (ALS), all of whom had serum monoclonal paraproteinemia. In addition, I report in tabular form 6 patients with paraproteinemia and the following clinical presentations: 1) systemic lupus with polyneuropathy and severe cerebritis, 2) myasthenia gravis with thymoma, 3) polymyositis, 4) polymyositis, arthritis and Grave's disease, 5) relapsing polyneuritis (one of the original patients diagnosed by Austin) and 6) ALS, dystonia and parkinsonism. Major improvements in clinical condition occurred sometimes, but not always, coincident with reductions in the levels of the paraprotein using prednisone, cyclophosphamide, chlorambucil and plasma exchange treatments even in some of the patients who had the clinical appearance of ALS. Patients with neuromuscular diseases should be routinely screened with serum immunoelectrophoresis for monoclonal gammopathy. If a monoclonal gammopathy is found and if the disease is serious, then those patients should be treated as if they had an autoimmune disorder.
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PMID:Neuropathy and motor neuron syndromes associated with plasma cell disease. 647 86

As I had been lectured to by a physician about the dangers of morphine use in my child, I agonized over allowing its administration, which only prolonged my son's suffering. It is one of my biggest regrets upon looking back on Austin's time here on earth. A lack of education on the positive benefits of morphine actually increased the time of his suffering. It's still hard to digest. When Austin received morphine he did not stop breathing, die, or lose his personality as I had feared. Instead, he was able to regain some of the weight he had lost during his bouts with dystonia and spasticity and could enjoy life within reason. He could even smile again, something that I had not seen in a full month of his suffering in the hospital. He died at age 14, but not before enduring other periods of time dealing with horrific spasms. Austin's pain became unmanageable in February 2005 and I had to make the painful decision to withdraw nutrition and hydration in order to end his horrible suffering, as there was no cure for the disease he had and no end in sight for the pain.
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PMID:About the lecture by a physician. 2165 65