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Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 2-year-old girl with reducing body myopathy was reported. She had no family history of neuromuscular disease. She developed normally with no delay in milestones during infancy. She had no muscle weakness or hypotonia up to 2 years of age when she received mumps vaccination. Three days after the injection, she was first noticed to have limb muscle weakness. The muscle weakness progressed rapidly with increasing difficulty in gait and raising the upper arms, particularly the left. Four months later, she had difficulty in keeping her head up and could no longer climb the stairs. On physical examination, she had proximal dominant generalized muscle weakness, with a preferential neck muscle involvement. She walked waddlingly and stood up with Gowers' maneuver. Facial and ocular muscles were intact. No dysarthria, dysphagia or respiratory difficulty was noted. EMG showed myopathic pattern. Serum creatine kinase level was moderately elevated to 739 IU/l. In the biopsied left biceps muscle, there was marked variation in fiber size, but no apparent necrotic or regenerating fibers. The most striking feature was the presence of numerous eosinophilic inclusions which reduced nitroblue tetrazolium (NBT) and were, therefore, stained dark with menadione-linked alpha-glycerophosphate dehydrogenase even without the substrate of menadione, showing the histochemical characteristics of "reducing" body. The bodies were predominantly seen in fibers with disorganized intermyofibrillar networks and with high acid phosphatase activity. On electron microscopy, the reducing bodies consisted of fine granular material with the similar electron density to the chromatin granules and were located mostly around the degenerated nuclei, suggesting the nuclear degeneration playing a role in forming the reducing bodies.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Reducing body myopathy--a case report]. 132 Oct 16

A study of 34 hospitalized patients with suspected neuroleptic malignant syndrome (NMS) found that 24 had NMS and the other 10 had acute, usually serious, medical problems. There were no demographic, psychopathologic, or treatment-related differences between the groups. NMS patients had more dehydration, cogwheeling, diaphoresis, disorientation, drooling, dysphagia, and rigidity and higher diastolic blood pressure. The groups had similar fevers, heart rates, creatine kinase levels, and white blood cell counts. Three non-NMS patients died during their acute illnesses. Results suggest that considering NMS as a diagnosis and ruling out other acute illnesses such as pneumonia are equally important when a patient on neuroleptic medication becomes medically ill.
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PMID:Distinguishing neuroleptic malignant syndrome (NMS) from NMS-like acute medical illnesses: a study of 34 cases. 135 2

Nineteen cases are described, including 12 cases from three different families and 7 nonfamilial cases, in which multisystem neurological disease was associated with acanthocytosis in peripheral blood and normal plasma lipoproteins. Mild acanthocytosis can easily be overlooked, and scanning electron microscopy may be helpful. Some neurologically asymptomatic relatives with significant acanthocytosis were identified during family screening, including some who were clinically affected. The mean age of onset was 32 (range 8-62) yrs and the clinical course was usually progressive but there was marked phenotypic variation. Cognitive impairment, psychiatric features and organic personality change occurred in over half the cases, and more than one-third had seizures. Orofaciolingual involuntary movements and pseudobulbar disturbance commonly caused dysphagia and dysarthria that was sometimes severe, but biting of the lips or tongue was rarely seen. Chorea was seen in almost all symptomatic cases but dystonia, tics, involuntary vocalizations and akinetic-rigid features also occurred. Two cases had no movement disorder at all. Computerized tomography often demonstrated cerebral atrophy. Caudate atrophy was seen less commonly, and nonspecific focal and symmetric signal abnormalities from the caudate or lentiform nuclei were seen by magnetic resonance imaging in 3 out of 4 cases. Depression or absence of tendon reflexes was noted in 13 cases and neurophysiological abnormalities often indicated an axonal neuropathy. Sural nerve biopsies from 3 cases showed evidence of a chronic axonal neuropathy with prominent regenerative activity, predominantly affecting the large diameter myelinated fibres. Serum creatine kinase activity was increased in 11 cases but without clinical evidence of a myopathy. Postmortem neuropathological examination in 1 case revealed extensive neuronal loss and gliosis affecting the corpus striatum, pallidum, and the substantia nigra, especially the pars reticulata. The cerebral cortex appeared spared and the spinal cord showed no evidence of anterior horn cell loss. Two examples of the McLeod phenotype, an X-linked abnormality of expression of Kell blood group antigens, were identified in a single family and included 1 female. The genetics of neuroacanthocytosis are unclear and probably heterogeneous, but the available pedigree data and the association with the McLeod phenotype suggest that there may be a locus for this disorder on the short arm of the X chromosome.
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PMID:Neuroacanthocytosis. A clinical, haematological and pathological study of 19 cases. 199 79

We describe a patient who had scleromyxedema associated with proximal myopathy. The histopathologic and electron microscopic features are presented. In addition, we review the clinical and pathologic features of all 9 previously reported patients with documented scleromyxedema and myopathy. Proximal (pharyngeal) or distal dysphagia (7 of 7 patients), elevated creatine kinase (5 of 8), elevated aldolase (3 of 3), and electromyographically demonstrated myopathy (7 of 7) were usual features. Four patients had muscle biopsies that showed myofibril vacuolar changes, but inflammation was infrequent (2 cases). Our patient responded to oral prednisone and weekly intravenous methotrexate with improvement of the erythroderma, papular rash, and muscle strength.
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PMID:Scleromyxedema myopathy: case report and review of the literature. 305 23

A mature female Rhodesian Ridgeback was determined to have a progressive, degenerative myopathy associated with myotonia, dysphagia, and marked muscle wasting. Clinical findings revealed a diffuse muscular disease with percussion dimpling, dysphagia, and creatine kinase elevation. A paroxysmal atrial tachycardia was found. Electromyography revealed a diffuse myopathy with high-frequency bizarre waves, myotonic discharges especially in the masticatory, laryngeal, and pharyngeal muscles. A few positive sharp waves were found in some of the appendicular muscles. Histopathologic and histochemical stains on skeletal muscle biopsy specimens demonstrated moderate fiber-size variation, myofiber architectural changes, muscle-fiber splitting, focal necrosis and phagocytosis, high percentage of internal nuclei, and atrophy of type-2 muscle fibers. A review of myotonic myopathies in the dog is presented. The clinical, electrophysiologic, and histochemical findings are similar to those for myotonic muscular dystrophy in man.
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PMID:Myotonic dystrophy-like disease in a dog. 397 11

The potential causes of neurogenic oropharyngeal dysphagia in cases in which the underlying neurologic disorder is not readily apparent are discussed. The most common basis for unexplained neurogenic dysphagia may be cerebrovascular disease in the form of either confluent periventricular infarcts or small, discrete brainstem stroke, which may be invisible by magnetic resonance imaging. The diagnosis of occult stroke causing pharyngeal dysphagia should not be overlooked, because this diagnosis carries important treatment implications. Motor neuron disease producing bulbar palsy, pseudobulbar palsy, or a combination of the two can present as gradually progressive dysphagia and dysarthria with little if any limb involvement. Myopathies, especially polymyositis, and myasthenia gravis are potentially treatable disorders that must be considered. A variety of medications may cause or exacerbate neurogenic dysphagia. Psychiatric disorders can masquerade as swallowing apraxia. The basis for unexplained neurogenic dysphagia can best be elucidated by methodical evaluation including careful history, neurologic examination, videofluoroscopy of swallowing, blood studies (CBC, chemistry panel, creatine kinase, B12, thyroid screening, and anti-acetylcholine receptor antibodies), electromyography, and magnetic resonance imaging (MRI) of the brain, plus additional procedures such as lumbar puncture and muscle biopsy as indicated. Little is known about aging and neurogenic dysphagia, specifically the relative contributions of natural age-related changes in the oropharynx and of diseases of the elderly, including periventricular MRI abnormalities, in producing dysphagia symptoms and videofluoroscopic abnormalities in this population.
Dysphagia 1994
PMID:Neurogenic dysphagia: what is the cause when the cause is not obvious? 780 24

We investigated a Japanese pedigree with oculopharyngeal muscular dystrophy (OPMD) which included the probands of two sisters and a brother. Case 1 (Fig. 1): A woman born in 1940 at Fuji City, Shizuoka prefecture (Pacific coast side, which located about 80 miles west from Tokyo) was insidiously suffering from dysphagia and eye lid ptosis since her age of 40. She was admitted to Shizuoka Red Cross Hospital when 48 years old, because of difficulty of going upstairs. Neurological examination revealed severe eye lid ptosis without eye movement disorders, dysphagia, and moderate weakness on neck and proximal muscles of extremities without definite atrophy and fasciculation. In the laboratory data, serum creatine kinase level was slightly elevated to 215 U/l. Electromyographic findings showed myogenic pattern on the extremities but no evidence of the existence of myasthenia gravis and neurogenic involvement. Intranuclear tubular filaments were found in 3% of muscle fibers from her left biceps muscle. Case 2: The elder sister of the case 1 was suffering from eye lid ptosis without eye movement disorder and severe dysphagia since the age of 44. Case 3: The younger brother of the case 1 was suffering from dysphagia and proximal muscle weakness since the age of 40. We found eye lid ptosis, dysphagia and/or proximal muscle weakness in 24 cases (men: 12 cases, women: 12 cases) out of 50 examined members of this pedigree after their ages of 40 (Fig.3; family tree). It was concluded that this pedigree had cases of oculopharyngeal muscular dystrophy with autosomal dominant inheritance which was quite rare in Japanese.
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PMID:[A Japanese pedigree with oculopharyngeal muscular dystrophy]. 792 58

A 36-year-old woman gradually developed dysphagia and muscle weakness of the lower extremities. Diagnosis of polymyositis was given from elevation of serum creatine kinase and pathological findings of a muscle biopsy. Despite oral prednisolone and intravenous pulse methylprednisolone therapy, her muscle weakness persisted, and then pulse intravenous cyclophosphamide (IVCY) therapy was initiated and repeated five times in total, which resulted in significant improvement in muscle strength. Thereafter, weekly administration of methotrexate at low dosage further normalized the serum creatine kinase level. We may conclude that IVCY and low-dose weekly methotrexate together could be an alternative in refractory polymyositis.
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PMID:Successful treatment of refractory polymyositis with pulse intravenous cyclophosphamide and low-dose weekly oral methotrexate therapy. 814 84

We report a family of mitochondrial myopathy which appeared to be interited as an autosomal dominant trait. The proband is a 58-year-old Japanese male, who presented with bilateral ptosis, chronic progressive ophthalmopletia, dysphagia, and atrophy of proximal muscles in the upper extremities. There was no cataract or retinal degeneration. Serum creatine kinase (CK) and lactic acid levels were normal. Cardiac evaluations were normal. Muscle biopsy revealed 7% of ragged red fibers. Cytochrome c oxidase activity in the muscle was decreased to 50% of the control value. PCR analysis of muscle mitochondrial DNA revealed 3 large-scale deletions in the non-D-loop regions, ranging in size from 4.2 kb to 5.2 kb. His father, three siblings, and the two children had symptoms similar to the proband. We have reviewed forty-five individuals from six families, including our family, who had mitochondrial myopathy with autosomal dominant inheritance. Frequent manifestations include chronic progressive ophtalmoplegia (91.2%), ptosis (95.6%), hearing loss (72.7%), dysphagia (60.0%), limb weakness (74.1%), and respiratory muscle weakness (75.0%). Interestingly, there is no individual with retinal degeneration or cardiac involvement. Serum CK and lactic acid levels may be elevated. CT of the head is normal. Muscle biopsy shows ragged red fibers and the frequency of cytochrome c oxidase-negative fibers ranges from 0 to 38%. Multiple large-scale deletions of mitochondrial DNA, ranging in size from 4.2 to 8.3 kb, are found in the muscle, all of which are located in the non-D-loop region of the mitochondrial DNA. The multiplicity of deletions may be one to the characteristic features of this form of mitochondrial myopathy.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Mitochondrial myopathy with autosomal dominant inheritance--report of a family and review of the literature]. 831 87

This is the first report on idiopathic inflammatory myopathies (IIM) in French Canadians. We reviewed retrospectively 30 French Canadian adults (20 women and 10 men) with IIM seen consecutively over 12 years. The median age at diagnosis was 45 years. The IIM were 8 (27%) primary polymyositis (PM), 9 (30%) primary dermatomyositis (DM), 5 (17%) IIM with neoplasia (lymphoma, breast, esophageal, colonic, and skin cancer) and 8 (27%) IIM with a connective tissue disease (4 with systemic sclerosis, 2 with mixed connective tissue disease, and 2 with rheumatoid arthritis). The most common presenting symptom was proximal muscle weakness (n = 10,33%). Of the remaining 20 patients, 6 (20%) had the onset of their weakness within 1 month of the presenting symptom. Only 3 (10%) patients did not have proximal muscle weakness. Twenty-six (87%) patients had weakness in the pelvic girdle, 25 (83%) in the shoulder girdle, and 7 (23%) in the neck muscles. Other common symptoms included dyspnea on exertion and dysphagia, each present in 13 (43%) patients. Gottron's papules and the heliotrope rash were the most common skin lesions documented in 11 (37%) and 10 (33%) patients, respectively. The serum creatine kinase (CK) level was between 171 and 1,000 U/L in 13 (43%) patients and between 1,001 and 6,000 U/L in 13 (43%) patients. Antinuclear antibodies (ANA) on HEp-2 cells were positive in 16 (53%) patients, of which 2 (13%) expressed autoantibodies to nuclear pore complexes. Autoantibody specificities were anti-La (n = 4, 13%), anti-U1RNP (n = 3, 10%), and anti-Ro (n = 2, 7%). None of the patients expressed anti-Jo-1, anti-topoisomerase I, or anticentromere antibodies. Twenty-eight (93%) patients received corticosteroid therapy, and 8 (27%) patients responded to prednisone alone. Thirteen (43%) patients were treated with methotrexate, and 9 (69%) responded. The mean follow-up was 62 months: 23 (77%) had their disease controlled, 3 (10%) patients were lost to follow-up, and 4 (13%) died (no death occurred because of IIM or its treatment). Therapy was discontinued because of remission in 5 (17%) patients. Cumulative survival rates at 2, 5, and 10 years were 89%, 89%, and 85%, respectively. The presence of autoantibodies to nuclear pore complexes and anti-La autoantibodies, the rare occurrence of anti-Jo-1 autoantibodies, the response to conventional therapies, and a high survival rate may distinguish IIM in French Canadians from that of other reported series.
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PMID:Distinctive features of idiopathic inflammatory myopathies in French Canadians. 887 Jan 12


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