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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a 54-year-old man with progressive proximal muscle atrophy and gynecomastia. The patient had an insidious onset of weakness in his lower extremities at age 14, in that he noted a difficulty in standing up from a chair. Soon after he noted some difficulty in climbing up stairs. At age 35, he noted weakness in his arms; his weakness slowly progressed in that he became unable to walk or stand alone before 40 years of age. He also noted gynecomastia at that age. He was admitted to our hospital for the work up on September 16, 1993, when he was 54-year-old. On admission, he was alert and oriented; his BP was 150/70 mmHg; he had bilateral gynecomastia, however, no other skeletal deformities were found. On neurologic examination, he was mentally sound without dementia, and his higher cerebral functions were normal. Cranial nerves also appeared intact without facial atrophy, dysarthria, or dysphagia; no atrophy was noted in the tongue. He had marked muscle atrophy in both upper and lower extremities more marked in the proximal portions; muscle strength was approximately in the range of 2/5 to 3/5 in the proximal parts, and 4/5 in the distal parts in both upper and lower extremities. No fasciculation was noted; muscle tone was flaccid; no ataxia was present. Deep reflexes were either lost or markedly diminished. No Babinski sign was noted. Sensation was intact. Laboratory examination revealed normal blood counts; serum CK was slightly increased to 131 IU/l; ECG showed complete right bundle branch block; EMG revealed no active units in the right biceps brachii, deltoid, quadriceps femoris, and triceps surae muscles; in other muscles tested, motor unit potentials of low amplitude and short duration were seen; in the right tibialis anterior muscle, however, motor unit potentials with an amplitude up to 6 m V were also seen. Nerve conduction velocities were normal. A diagnostic procedure was performed. He was discussed in the neurological CPC, and the chief discussant arrived at the conclusion that this patient had Becker type of progressive muscular dystrophy. In her differential diagnosis, the possibility of Kennedy-Alter-Sung syndrome was discussed because this patient had gynecomastia. However, the discussant excluded that possibility because of absence of both bulbar symptoms and typical neurogenic changes in his EMG. The diagnostic procedure was a muscle biopsy on the left tibialis anterior muscle. Histologic observation on HE stained specimens revealed marked inequality in the muscle fiber diameters, increase in endomysial nuclei, proliferation of connective tissue, and fiber splitting.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:[A 54-year-old man with progressive proximal muscle atrophy and gynecomastia]. 766 8

Among a group of dysphagic dogs the bouvier des Flandres was overrepresented. The results of a clinical examination, contrast videofluorography and electromyography of the pharyngeal, laryngeal and oesophageal muscles were similar in all the bouviers, and a histological examination of tissues from 10 of them revealed muscular dystrophy as the cause of the dysphagia. A study of the affected dogs' pedigrees revealed that they were descendants of one closely related group of ancestors, and that the inbreeding levels for this ancestor group were higher than in a control population of 136 bouviers. The homozygosity due to inbreeding for this ancestor group was higher in the affected dogs than in the control dogs, but the homozygosity due to all other ancestry was equal in the two groups. The relative risk of developing dysphagia-associated muscular dystrophy was up to 16 times greater in these bouviers, depending on the level of inbreeding for the closely related ancestor group.
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PMID:Dysphagia-associated muscular dystrophy: a familial trait in the bouvier des Flandres. 804 16

Plummer-Vinson syndrome is a clinical entity associated with dysphagia, sideropenic anemia and atrophic glossitis. Using rabbits with iron deficiency anemia, the author investigated the cause of dysphagia in this syndrome. Iron deficient animals were produced by bolus feeding without iron and intramuscular injection of an iron-chelating agent. The fibers of swallowing muscles (the thyro-pharyngeal, cricopharyngeal and cervicoesophageal muscles) were classified into three types (Type 1, 2A and 2B fibers) by actomyosin ATPase staining. No significant difference between the muscles of sideropenic rabbits and those of normal rabbits were found in the composition and distribution of their muscle fibers. By NADH-TR staining, however, the disturbance of the intermyofibrillar network and/or a "Moth Eaton" appearance, known to be caused by leakage of mitochondria, were observed in Type 1 fibers of the swallowing muscles of sideropenic rabbits. These morphological changes are similar to those observed in progressive muscular dystrophy. The quantity of iron in the swallowing muscles of sideropenic rabbits was significantly reduced in comparison with that in the sternothyroid and femoral muscles. This finding suggests that a selective decrease in myoglobin occurs in the swallowing muscles of iron deficient animals. From these observations, it might be concluded that dysphagia in iron deficiency anemia is caused by a myogenic disorder.
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PMID:[Disorder of swallowing muscles in iron deficient rabbits]. 845 10

Limb girdle muscular dystrophy (LGMD) is not a recognized cause of dysphagia. However, a systematic study of pharyngoesophageal function in LGMD has not been performed or reported. We determined whether the dystrophic process involves the pharyngoesophageal musculature in 20 LGMD patients with and without complaints of deglutition. Pharyngeal and esophageal function was evaluated by conventional cineradiography and manometry. Abnormalities were demonstrated in 30% (6/20) of patients: dysphagia in 10% (2/20), an abnormal radiologic study in 30% (6/20), and an abnormal manometric study in 20% (4/20). Mean manometric pressures were not significantly different when patients were compared with a healthy, age- and sex-matched volunteer group. In 2 patients, dysfunction of the pharyngeal striated muscle was likely, or possibly, due to dystrophic affection of the upper alimentary tract. Significant upper alimentary tract dysfunction in LGMD is not common. The cause-effect relationship between the dystrophic process and the nonspecific pharyngoesophageal motility disorders is unclear and requires pathologic study.
Dysphagia 1996
PMID:Limb girdle muscular dystrophy: a radiologic and manometric study of the pharynx and esophagus. 855 76

Oculopharyngeal muscular dystrophy (OPMD) is a late adult onset, autosomal dominant muscular dystrophy characterized by ptosis and dysphagia. The OPMD gene has been localized to chromosome 14q11.2-q13 in French-Canadian pedigrees. We report 2 non-French-Canadian families with OPMD. Affected ancestors were immigrants to the United States from Italy and Normandy. The Norman pedigree does not share the French-Canadian haplotype. OPMD appears to be a heterogeneous disorder with similar phenotypes, but probably with different gene loci.
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PMID:Oculopharyngeal muscular dystrophy: non-French-Canadian pedigrees. 958 41

The management of the patient with neuromuscular disease is complex. Every child should be seen as a distinct individual and therefore merits patient-specific assessment and intervention. This article reviews nutritional management using spinal muscular atrophy and Duchenne's muscular dystrophy as representative models. The history of nutritional intake, nutritional needs, and underlying medical problems with physical examination, anthropometric, body composition, and biochemical markers are all important parts of the assessment and should be done at regular intervals. Intervention may include calorie restriction or calorie supplementation. Treatment strategies that follow diagnosis of dysphagia include positioning, increased sensory input, or direct maneuvers, such as volume changes or thickening liquid. Percutaneous endoscopic gastrostomy can be safely placed in almost all situations with minimal risk. Patients benefit most from a multidisciplinary and systematic management program.
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PMID:Nutrition and swallowing in pediatric neuromuscular patients. 966 Dec 44

Both achalasia and Hirchsprung's disease arise from defects of innervation of the oesophagus and distal large bowel respectively. Their consequences are confined to disorders of motility in the relevant part of the gastrointestinal tract. Many neurogenic and primary muscle disorders are associated with abnormalities of gut motility. Stroke, even when unilateral, is commonly associated with dysphagia. Transcranial magnetoelectric stimulation has established that the pharyngeal phase of swallowing tends to receive its innervation principally from one hemisphere. In many neurological disorders, dysphagia is only one part of the clinical picture but in some--for example, the Chiari malformation--dysphagia may be the sole or major feature. Disturbances of small and large bowel motility, when seen in neurogenic disorders, are associated with autonomic neuropathy and are particularly common in diabetes mellitus. Primary muscle disorders can lead to dysphagia (for example, with polymyositis or oculopharyngeal dystrophy) or defects of large bowel motility (for example, with Duchenne's muscular dystrophy). Primary gut disorders particularly associated with neurological disease include pernicious anaemia, nicotinamide and thiamine deficiencies, selective vitamin E deficiency, and coeliac disease. Inflammatory bowel disease is associated with thromboembolic complications which may include the CNS, inflammatory muscle disease, and abnormalities on MRI of the brain of uncertain relevance. Whipple's disease is a rare condition which sometimes is largely or entirely confined to the CNS. In such cases, a particular neurological presentation can indicate the diagnosis.
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PMID:Neurology and the gastrointestinal system. 1040 May 14

There are currently 27 national hospitals with the wards for progressive muscular dystrophy (PMD) in Japan. Today, most patients in these wards are severely motor handicapped and complicated with respiratory and/or cardiac failure. Malnutrition, dysphagia, insufficient respiratory tract clearance are common problems that cause fragility to infection. Although progress in the treatment of infection have remarkably prolonged their life-span, frequent use of antibiotics is a major factor for occurrence of drug resistant bacteria. Since we had the first case of methicillin resistant Staphylococcus aureus (MRSA) infection in 1994 in our hospital, the number of MRSA carriers increased year by year. To prevent the spread of MRSA, we revised our infection precaution manual and surveyed its consequence. We encouraged handwashing of staffs, introduced green tea in cleansing genital region and abolished the use of a private room except a patient with severe seborrheic eczema. The revision of the manual resulted in decrease of MRSA carriers. The surveillance revealed that many patients had MRSA in genital regions, although there were no relationships between colonization of MRSA and severlity of disability or complications. It was strongly suggested that toilettary care by the hands of nursing staffs was a major factor of transferring MRSA. Our study revealed that encouragement of handwashing is more powerful in preventing the spreading MRSA, and more favorable for quality of lives of PMD patients than isolating the patients.
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PMID:[MRSA infection control in the wards for progressive muscular dystrophy: the effects of encouraged handwashing]. 1082 93

Sex-linked muscular dystrophy associated with dystrophin deficiency has been reported in several breeds of dogs and is best characterized in the golden retriever. In this case report, a young, male Labrador retriever with dystrophin-deficient muscular dystrophy is presented. Clinical signs included generalized weakness, lingual hypertrophy, and dysphagia. Electromyographic abnormalities including complex repetitive discharges were present. Serum creatine kinase concentration was dramatically elevated. Histopathological changes within a muscle biopsy specimen confirmed a dystrophic myopathy, and dystrophin deficiency was demonstrated by immunohistochemical staining. While X-linked muscular dystrophy has not previously been reported in the Labrador retriever, a hereditary myopathy with an autosomal recessive mode of inheritance has been characterized. A correct diagnosis and classification of these two disorders are critical for breeders and owners since both the mode of inheritance and the prognosis differ.
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PMID:Dystrophin-deficient muscular dystrophy in a Labrador retriever. 1202 12

Muscular dystrophy was diagnosed in seven male Japanese Spitz dogs with clinical signs of slowly progressive exercise intolerance, generalized weakness, myalgia, difficulty chewing and dysphagia. Serum creatine kinase (CK) concentrations were markedly elevated. Histopathology showed degeneration and regeneration of muscle, consistent with a dystrophic phenotype. Immunohistochemical staining for dystrophin and related proteins showed no staining with a monoclonal antibody against the rod domain of dystrophin but near-normal staining with an antibody against the C terminus. Immunoblot analysis in two affected dogs showed a truncated dystrophin protein of approximately 70-80 kDa. The severity of disease showed that this fragment was not large enough to protect from the dystrophic process.
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PMID:Muscular dystrophy with truncated dystrophin in a family of Japanese Spitz dogs. 1470 16


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