Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027066 (myoclonus)
 4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In recent years, there have been many developments in the field of autoimmune encephalitis. Autoimmune encephalitis is often treatable, and fast recognition and treatment are essential to prevent irreversible damage. Identification of patients with autoimmune encephalitis is challenging because patients display various symptoms and consequently present to different medical specialists. We describe 3 cases of autoimmune encephalitis due to different antibodies. A 23-year-old woman presented with acute psychosis, followed by seizures and autonomic dysfunction. She was diagnosed with anti-NMDAR encephalitis caused by antibodies that were triggered by ovarian teratoma. A 59-year-old man developed severe behavioural changes, memory deficits, and subtle faciobrachial dystonic seizures. He had anti-LGI1 encephalitis and recovered completely. The third patient was a 57-year-old man who presented with diarrhea and weight loss, and gradually developed progressive rigidity, myoclonus and ataxia over the course of several months. He was ultimately diagnosed with anti-DPPX encephalitis. All patients responded well to immunotherapy with (near-)complete recovery within months to years.
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PMID:[Clinical symptoms of patients with autoimmune encephalitis: a guide to timely recognition and treatment]. 3207 82

Stiff person spectrum disorders (SPSD) are a broad group of immune-mediated disorders. Clinical presentations include classical stiff person syndrome (SPS), focal SPS, and progressive encephalomyelitis with rigidity and myoclonus (PERM). The most frequently associated antibodies are anti-GAD65, anti-GlyR, anti-amphiphysin, and anti-DPPX. Immunotherapy is the primary treatment modality. We present an illustrative case series of three patients: anti-GlyR antibody-mediated PERM presenting as rapidly progressive dementia; anti-amphiphysin antibody-mediated SPS; and SPS presentation with anti-Zic4 antibodies, spasmodic laryngeal stridor and fluctuating eyelid ptosis. Clinical characteristics, CSF findings, neurophysiological features, adequate immunological assays and a high suspicion index are essential for prompt diagnosis and management.
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PMID:Stiff person spectrum disorders: An illustrative case series of their phenotypic and antibody diversity. 3208 60