Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0040822 (tremor)
 18,428 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An atypical case of hereditary motor and sensory neuropathy (HMSN) type 2 with cerebellar ataxia, hand tremor and bilateral recurrent nerve palsy was described. The patient was a 57-year-old man who complained of dyspnea, stridor , hoarseness during exercise and snored heavily during sleep since he was 20 years old. These symptoms and signs were slowly progressive. He had difficulty in breathing even at resting state when he was 54 years old and since then, he noticed muscle wasting of his hands and feet. Neurological examinations on admission revealed pes cavus, scoliosis, distal muscular atrophy in his four extremities, especially severe in bilateral lower limbs. Deep tendon reflexes were diffusely depressed. The fiberscopic examination demonstrated the limitation of bilateral vocal cord abduction and his tongue was slightly atrophic. Fine postural tremor was found in bilateral hands. Mild limb and truncal ataxias were also noted. Blood pCO2 level was elevated to 66% although FEV1.0% and vital capacity were within normal limits. Peripheral nerve conduction velocities were almost normal, though distal terminal latencies were slightly prolonged and amplitudes of evoked potentials were markedly decreased. The sural nerve biopsy studies revealed the chronic axonal or neuronal degeneration of both large and small myelinated fibers. From the clinical, electrophysiologic and histopathologic findings, the diagnosis of HMSN type 2 with bilateral recurrent nerve palsy and other atypical neurological findings was made. It is practically important to evaluate the presence or absence of vocal cord paralysis in the patients with HMSN from clinical viewpoints.
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PMID:[A case of hereditary motor and sensory neuropathy (HMSN type 2) with bilateral recurrent nerve palsy]. 829 75

We report the clinicopathological features of 203 cases of pathologically proven multiple system atrophy (MSA) from 108 publications up to February 1995. The majority of patients showed symptoms in their early fifties, and men were more commonly affected than women (ratio of 1.3:1). Most patients suffered from some degree of autonomic failure (74%). Parkinsonism was the most common motor disorder (87%), followed by cerebellar ataxia (54%) and pyramidal signs (49%). The response to levodopa was poor in most patients, but there was a subgroup with a good response, who also often developed axial levodopa-induced dyskinesias. Other characteristic features included severe dysarthria, stridor, and, in a few patients, contractures and dystonia (antecollis). Mild or moderate intellectual impairment occurred in some cases, but severe dementing illness was most unusual. The main pathological change comprised cell loss and gliosis in the putamen, caudate nucleus, external pallidum, substantia nigra, locus ceruleus, inferior olives, pontine nuclei, cerebellar Purkinje cells, and intermediolateral cell columns of the spinal cord. However, other neuronal populations were also involved to varying degrees, such as the thalamus, vestibular nucleus, dorsal vagal nucleus, corticospinal tracts, and anterior horn cells. Characteristic glial and/or neuronal cytoplasmic inclusions were identified in all cases in which they were sought, irrespective of clinical presentation. Akinesia correlated with the degree of nigral and putaminal cell loss, whereas rigidity was related only to the later. Tremor was unrelated to cell loss at any site. Ataxia correlated with the degree of olivopontocerebellar atrophy. Pyramidal signs were associated with pyramidal tract pallor. Our analysis also confirmed an association of postural hypotension with intermediolateral cell column degeneration.
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PMID:Multiple system atrophy: a review of 203 pathologically proven cases. 908 71

We report a 60-year-old woman with juvenile Parkinson disease (PD) with vocal cord abductor paralysis (VCAP). She had suffered from juvenile PD for 30 years. She was admitted in February 1998 to our clinical unit, because of malignant syndrome induced by dehydration. Neurological examination revealed disturbance of consciousness, hand tremor, dyskinesia of the trunk and all extremities, and rigidity. Laboratory examinations disclosed leukocytosis, renal dysfunction, hypermyoglobinemia, and elevation of the serum creatine kinase. Six days after admission, dyspnea and inspiratory stridor were noted, and the respiratory distress worsened. Endoscopy of the upper airways revealed that the vocal cord was in the midline or paramedian position. There are some cases of PD with VCAP, but such a case is very rare in Japan. We discussed the pathogenic mechanisms of these conditions, and speculated that VCAP was associated with malignant syndrome in our case.
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PMID:[A case of juvenile Parkinson disease with vocal cord abductor paralysis in the course of malignant syndrome]. 1039 Oct 85

Relapsing polychondritis is a chronic inflammatory disease associated with an autoimmune disorder in cartilaginous tissue, eyes, labyrinth, blood vessels, and central nervous system. We describe a 75-year-old woman who presented with a 20-year history of dyspnea, inspiratory stridor, and polyarthritis. She developed dysmorphism of both ears and a saddle nose approximately 10 years earlier. Subsequently, she suffered from hearing loss and a tremor. A T2-weighted magnetic resonance imaging scan of the brain revealed multiple, spotted signal intensities. Immunohistochemical analysis of a serum sample showed antibodies to cartilaginous tissue, which were further identified on immunoblotting as antibodies to type II collagen. The extremely prolonged course of disease (>20 years) until a correct diagnosis was made is remarkable. Also, cerebral involvement, which was most likely caused by cerebral angiitis, and which, to our knowledge, has never previously been reported in this form, was detected. Arch Otolaryngol Head Neck Surg. 2000;126:1495-1498
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PMID:Relapsing polychondritis: a course over 20 years with cerebral involvement. 1111 90

A 1.5-month-old boy with Sandifer's syndrome is described. After an uneventful delivery, he presented torticollis, seizure-like dystonic neck movements usually associated with feeding, episodic vomiting, inspiratory stridor and hand tremor in the first month of life. Barium esophagogram demonstrated gastroesophageal reflux, for which medical therapy was started. Children with torticollis and dystonic movements should be evaluated for Sandifer's syndrome. Early diagnosis and treatment of gastroesophageal reflux may prevent complications.
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PMID:A case of Sandifer's syndrome with hand tremor. 1176 69

A 70-year old woman was admitted because of sleep maintenance insomnia with severe respiratory sounds during sleep. Polysomnography (PSG) revealed frequent respiratory events, particularly hypopneas, throughout the night associated with severe oxygen desaturation, and inspiratory stridor, which was shown to have a high-pitched frequency by acoustic sound analysis. She also presented fine finger tremor due to parkisonism, increased bilateral tendon responses, cerebellar ataxic gait, and dysautonomia. Therefore, we concluded that she suffered from multiple systemic atrophy (MSA). Nasal continuous positive airway pressure (nCPAP) treatment was successful. Characteristic PSG findings and analysing the snoring sound are important in the early diagnosis of sleep-related disordered breathing in MSA.
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PMID:[A case of multiple systemic atrophy (MSA) analyzed by acoustic sound for nocturnal inspiratory stridor]. 1776 88

Bilateral vocal cord paralysis leading to stridor is a known but rare complication of Parkinson's disease (PD) and a recognised complication of multiple system atrophy (MSA). Tracheostomy is a commonly offered treatment, leading to substantial adaptations and lifestyle changes for the patient. Patients can struggle to manage a tracheostomy due to the tremor and bradykinesia associated with their parkinsonism. We report a case of bilateral vocal cord paralysis leading to significant stridor in a patient with atypical parkinsonism (probable MSA). To avoid tracheostomy, our patient underwent successful right-sided laser arytenoidectomy and posterior cordotomy as a day-case procedure. At follow-up, he had a weaker voice but complete recovery from the shortness of breath and stridor. He was very satisfied with the outcome. We conclude that, despite resulting in a weaker voice, this procedure offers an option to the patient that improves quality of life.
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PMID:Laser arytenoidectomy and posterior cordotomy in a patient with bilateral vocal cord paralysis due to multiple system atrophy. 2593 70

Clinical diagnosis of multiple system atrophy is challenging and many patients with Lewy body disease (i.e. Parkinson's disease or dementia with Lewy bodies) or progressive supranuclear palsy are misdiagnosed as having multiple system atrophy in life. The clinical records of 203 patients with a clinical diagnosis of multiple system atrophy were reviewed to identify diagnostic pitfalls. We also examined 12 features supporting a diagnosis of multiple system atrophy (red flag features: orofacial dystonia, disproportionate antecollis, camptocormia and/or Pisa syndrome, contractures of hands or feet, inspiratory sighs, severe dysphonia, severe dysarthria, snoring, cold hands and feet, pathological laughter and crying, jerky myoclonic postural/action tremor and polyminimyoclonus) and seven disability milestones (frequent falls, use of urinary catheters, wheelchair dependent, unintelligible speech, cognitive impairment, severe dysphagia, residential care). Of 203 cases, 160 (78.8%) were correctly diagnosed in life and had pathologically confirmed multiple system atrophy. The remaining 21.2% (43/203) had alternative pathological diagnoses including Lewy body disease (12.8%; n = 26), progressive supranuclear palsy (6.4%; n = 13), cerebrovascular diseases (1%; n = 2), amyotrophic lateral sclerosis (0.5%; n = 1) and cerebellar degeneration (0.5%; n = 1). More patients with multiple system atrophy developed ataxia, stridor, dysphagia and falls than patients with Lewy body disease; resting tremor, pill-rolling tremor and hallucinations were more frequent in Lewy body disease. Although patients with multiple system atrophy and progressive supranuclear palsy shared several symptoms and signs, ataxia and stridor were more common in multiple system atrophy. Multiple logistic regression analysis revealed increased likelihood of multiple system atrophy versus Lewy body disease and progressive supranuclear palsy if a patient developed orthostatic hypotension or urinary incontinence with the requirement for urinary catheters [multiple system atrophy versus Lewy body disease: odds ratio (OR): 2.0, 95% confidence interval (CI): 1.1-3.7, P = 0.021; multiple system atrophy versus progressive supranuclear palsy: OR: 11.2, 95% CI: 3.2-39.2, P < 0.01]. Furthermore, autonomic dysfunction within the first 3 years from onset can differentiate multiple system atrophy from progressive supranuclear palsy (multiple system atrophy versus progressive supranuclear palsy: OR: 3.4, 95% CI: 1.2-9.7, P = 0.023). Multiple system atrophy patients with predominant parkinsonian signs had a higher number of red flag features than patients with Lewy body disease (OR: 8.8, 95% CI: 3.2-24.2, P < 0.01) and progressive supranuclear palsy (OR: 4.8, 95% CI: 1.7-13.6, P < 0.01). The number of red flag features in multiple system atrophy with predominant cerebellar signs was also higher than in Lewy body disease (OR: 7.0, 95% CI: 2.5-19.5, P < 0.01) and progressive supranuclear palsy (OR: 3.1, 95% CI: 1.1-8.9, P = 0.032). Patients with multiple system atrophy had shorter latency to reach use of urinary catheter and longer latency to residential care than progressive supranuclear palsy patients, whereas patients with Lewy body disease took longer to reach multiple milestones than patients with multiple system atrophy. The present study has highlighted features which should improve the ante-mortem diagnostic accuracy of multiple system atrophy.
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PMID:Improving diagnostic accuracy of multiple system atrophy: a clinicopathological study. 3149 60