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)

Striatonigral degeneration (SND) is difficult to diagnose in vivo. The purpose of this study was to detect the best indicators for an early and reliable diagnosis of the disease. Eighteen patients clinically diagnosed as having SND were selected with rigorous inclusion criteria and compared to 18 patients with Parkinson's disease (PD) matched for age and disease duration. Apart from dysautonomia, the principal discriminant clinical features that distinguished SND from PD were the early appearance of the following symptoms and signs: (a) severe and atypical progressive parkinsonism characterized by bilateral bradykinesia and rigidity, slowness of gait, postural instability, and falls, and poor or absent response to adequate levodopa treatment; (b) increased tendon reflexes associated or not with frank pyramidal signs, severe dysarthria, and less consistently, dysphagia, stridor, antecollis, and stimulus-sensitive myoclonus, which, when present, are highly suggestive of the disease.
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PMID:"Pure" striatonigral degeneration and Parkinson's disease: a comparative clinical study. 765 45

Sleep-disordered breathing and sleep-related motor phenomena are part of the clinical spectrum of multiple system atrophy (MSA). Stridor has been attributed to denervation of laryngeal muscles or instead to dystonic vocal cord motion. We studied 3 patients with nocturnal stridor in the setting of MSA. All patients underwent nocturnal videopolysomnography (VPSG) with breathing and heart rate, O(2) saturation and intra-esophageal pressure recordings, and simultaneous EMG recordings of the posterior cricoarytenoid, cricothyroid, and thyroarytenoid muscles and continuous vocal cord motion evaluation by means of fiberoptic laryngoscopy. VPSG/EMG and fiberoptic laryngoscopy documented normal vocal cord motion without denervation during wake and stridor only during sleep when hyperactivation of vocal cords adductors appeared in the absence of significant O(2) desaturation. All patients had tachycardia and tachypnea and paradoxical breathing during sleep, erratic intercostalis and diaphragmatic EMG activity and Rem sleep behavior disorder. One of the patients had restless legs syndrome with periodic limb movement during sleep and excessive fragmentary hypnic myoclonus. In conclusion, our patients with MSA had nocturnal stridor due to sleep-related laryngeal dystonia. Stridor was associated with other abnormal sleep-related respiratory and motor disorders, suggesting an impairment of homeostatic brainstem integration in MSA.
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PMID:Sleep-related stridor due to dystonic vocal cord motion and neurogenic tachypnea/tachycardia in multiple system atrophy. 1726 93

We present a case of pediatric primary cervical neuroblastoma (NB), which is extremely rare. A 3-year-old girl with ataxia but no nasal obstruction, dysphagia, or stridor was diagnosed with cervical NB. Diagnostic results including clinical chemistry, full blood count, and serology, were normal. Ataxia worsened within a few days after onset and was not cured by steroids or intravenous immunoglobulin, delaying a definite diagnosis until a tumor was detected. Opsoclonus-myoclonus syndrome is typified by opsoclonus with myoclonus and ataxia, primarily associated with neuroblastoma. Brain stem cell and cerebellum dysfunction is thought to be due to an autoimmune mechanism. Following chemotherapy and selective neck dissection, the girl has had no recurrence or adverse sequelae. Ataxia disappeared during chemotherapy. We suggest that neuroblastoma should be considered in any child with unexpected by prolonged ataxia.
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PMID:[A case report on cervical neuroblastoma with ataxia]. 2170 71

Gaucher disease is a lysosomal storage disease caused by deficiency of glucocerebrosidase and accumulation of glucocerebroside. Three major sub-types have been described, type 2 is an acute neurological form that exhibits serious general symptoms and poor prognosis, compared with the other types. This case was a girl diagnosed with type 2 Gaucher disease at 12months of age who presented with poor weight gain from infancy, stridor, hypertonia, hepatosplenomegaly, trismus and an eye movement disorder. Enzyme replacement therapy (ERT) was administered, but she had frequent myoclonus and developmental regression. She needed artificial ventilation because of respiratory failure. She died at 11years of age. An autopsy demonstrated infiltrating CD68-positive large cells containing abundant lipids in alveoli, while in the liver, kidney and bone marrow CD68-positive cells were small and round. In the bone marrow, myelodysplastic changes were present without Gaucher cells. The infiltration of Gaucher cells in alveoli was marked, suggesting that ERT was relatively ineffective in pulmonary involvement, particularly intra-alveolar. Additional treatments are necessary to improve the neurological and pulmonary prognosis of type 2Gaucher disease.
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PMID:Histological characterisation of visceral changes in a patient with type 2 Gaucher disease treated with enzyme replacement therapy. 2786 10

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