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

Two cases of childhood muscular dystrophy are described. One of them had clinical features suggestive of Emery-Dreifuss muscular dystrophy and the other with some features of Prader-Willi syndrome, besides proximal muscle weakness. Muscle biopsy from both cases revealed a clear abnormality of dystrophin, and were diagnosed as having Duchenne muscular dystrophy (DMD) by immunofluorescence examination; that is, absent dystrophin at the membrane of the muscle fibers. The clinical spectrum of DMD-related myopathies and the importance of dystrophin testing in childhood muscular dystrophies is discussed.
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PMID:Dystrophin test in differential diagnosis of childhood muscular dystrophies. 130 19

Emery-Dreifuss disease is a benign X-linked muscular dystrophy characterized by a distinct pattern of muscle weakness, which is of insidious onset and slow progression. It is associated with atrial paralysis that results in sudden death in early adulthood if left untreated. The authors report the documentation of electrical and mechanical silence confined to the atria in a patient with this disease. Electrocardiography and electrophysiological study document the absence of electrical atrial activity, and inability to pace the atria. Hemodynamic studies demonstrate the absence of A waves, and angiography revealed immobility of the atria. This patient has done well following the institution of permanent ventricular pacing. His brother, who also had muscular dystrophy, died a sudden cardiac death at the age of 29 after refusing medical intervention. Emery-Dreifuss muscular dystrophy is particularly worthy of recognition because of the preventable occurrence of sudden death in young patients with an otherwise excellent prognosis. Permanent ventricular pacing is indicated.
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PMID:Atrial paralysis in a patient with Emery-Dreifuss muscular dystrophy. 137 11

Rigid spine syndrome (RSS) is clinically characterized by progressive limitation of flexion of the spine and contractures of other joints. We herein report a 27-year-old man with RSS, who underwent tracheotomy because of severe restrictive respiratory failure. He had limitation of neck flexion and proximal muscle weakness from early childhood and was diagnosed as having muscular dystrophy at 16 years old. He was suffered from dyspnea and his first tracheotomy was performed at 24 years old. Two years later, the second tracheotomy was done because his respiratory failure was aggravated. He had limitation of spine flexion, scoliosis, but no limited range of elbow and wrist joints movement except mild contracture of ankle joints. Serum CK level was elevated to 590 IU/L. Repeated ECG examinations showed negative T wave but no conduction block. In his family, his parents and brother had neither similar clinical symptoms nor heart block. Chest X-ray study showed elevated diaphragm and enlarged heart shadow (CTR = 65%). Percent VC and FEV1 in sitting position were 14.6% and 100%, respectively. Arterial blood gas analysis showed PaO2 of 34.2 mmHg and PaCO2 of 77.2 mmHg. The density of paraspinal muscle in CT scan was severely decreased. Needle EMG showed myogenic change. Muscle biopsy from left biceps brachii showed myopathic change with mild type 2 fiber grouping. After the second tracheotomy, he was on a respiratory during sleep but mostly off in the daytime. His clinical features are different from Emery-Dreifuss muscular dystrophy because he had no heart conduction block and no family history, but progressive respiratory failure.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A case of rigid spine syndrome associated with severe respiratory failure]. 176 65

Emery-Dreifuss muscular dystrophy is sometimes referred to as benign X-linked muscular dystrophy. We present two young patients with this disorder who had severe cardiovascular complications including: conduction disease, major thromboembolic events, valvular dysfunction with congestive cardiac failure, ventricular tachyarrhythmias, and sudden cardiac death. Of these cardiac problems, only conduction disease has been previously emphasized. This form of muscular dystrophy is not benign--it has malignant cardiac manifestations.
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PMID:Benign X-linked (Emery-Dreifuss) muscular dystrophy is not benign. 244 2

The original Virginia family with X-linked muscular dystrophy with early contractures and cardiomyopathy (Emery-Dreifuss type) has been reinvestigated 25 years later. The findings confirm that a cardiomyopathy, presenting most often as atrioventricular block, is a significant feature of the disease, which is characterized by the triad of: 1) slowly progressive muscle wasting and weakness with a humero-peroneal distribution in the early stages; 2) early contractures of the elbows, Achilles tendons, and post-cervical muscles; and 3) a cardiomyopathy usually presenting as heart block (some female carriers may also develop heart block). Other reported families with X-linked Emery-Dreifuss muscular dystrophy as well as a rare autosomal variant are reviewed, and differentiation from scapulo-peroneal muscular dystrophy and the rigid spine syndrome is discussed.
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PMID:X-linked muscular dystrophy with early contractures and cardiomyopathy (Emery-Dreifuss type). 331 95

We reported the autopsy findings in a 50-year-old man with typical clinical features of Emery-Dreifuss muscular dystrophy. Special attention was directed to the spinal cord and ventral spinal roots to determine whether cause of the muscle wasting was denervation or myopathy. Neuropathological studies disclosed no abnormality of the spinal cord, and the ventral spinal roots were intact. The skeletal muscles showed dystrophic changes of varying degrees, and marked cardiomyopathy was evident. We consider that muscle wasting in this man was due to muscular dystrophy.
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PMID:Emery-Dreifuss muscular dystrophy. An autopsy case. 361 71

A young adult male is described with muscular dystrophy of probable X-linked recessive inheritance. An onset of muscle weakness in late adolescence was preceded by contractures of the neck and elbows dating back to childhood. The distribution of muscle weakness was proximal in the upper limbs and both proximal and distal in the lower. The mixed pattern of muscle involvement in the legs favours the view that cases of Emery-Dreifuss muscular dystrophy with proximal weakness in both the upper and lower limbs and X-linked scapuloperoneal muscular dystrophy represent the same disorder. A muscle biopsy in the present case showed unique appearances.
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PMID:Emery-Dreifuss syndrome. 370 78

A woman with early-onset, slowly progressive, humeroperoneal muscle weakness had marked restriction of neck flexion with contracture at the elbows. She developed exertional dyspnea at age 25, atrial fibrillation with slow ventricular rate was discovered, and a cardiac pacemaker was implanted. Her father had a similar disorder. There is at least one other report of autosomal dominant transmission of this clinical picture, which had previously only been reported as Emery-Dreifuss muscular dystrophy with X-linked recessive inheritance. Thus, more than one mode of inheritance is possible for this unusual and distinctive form of muscular dystrophy.
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PMID:Emery-Dreifuss muscular dystrophy with autosomal dominant transmission. 402 62

We report on the expression of growth associated protein (GAP)43 and neural cell adhesion molecule (NCAM) in congenital fibre type disproportion (CFTD) with myopathological additional signs of interstitial myositis. We assume that sarcolemmal GAP43 in developmental disordered myocytes plays a role in maintenance of growth morphology. In muscular dystrophy light microscopical evaluation reveals no GAP43 immunoreactivity in regenerating fibres. The expression of GAP43 seems to be a characteristic feature of CFTD. The expression of NCAM, particularly in the sarcolemma of small muscle fibres of CFTD, indicates a functional state of permanent partial denervation. Whether the steroid-responsive interstitial myositis is pathogenetically related to CFTD or a coincidental inflammation is not known. Because of the clinical and myopathological data the differential diagnosis of Emery-Dreifuss muscular dystrophy is considered.
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PMID:Expression of growth associated protein 43 and neural cell adhesion molecule in congenital fibre type disproportion with interstitial myositis. 752 52

The muscular dystrophies are a group of inherited disorders that are clinically and genetically distinct. Genetic counselling is an essential part of the management of these patients. Molecular genetic techniques, in particular positional cloning but also now candidate gene analysis, have allowed the beginning of an understanding of the molecular pathology of these conditions. This is most advanced in Duchenne and Becker muscular dystrophy, where the gene and protein responsible have been fully defined, and analyses of the gene and protein can offer specific diagnostic and prognostic information, as well as more precise carrier counselling. Gene localizations are known for Emery-Dreifuss muscular dystrophy, facioscapulohumeral muscular dystrophy, three forms of 'limb-girdle' muscular dystrophy, severe childhood autosomal recessive muscular dystrophy and Fukuyama muscular dystrophy. Closely linked markers for Emery-Dreifuss and facioscapulohumeral muscular dystrophy can be helpful in the investigation of large families with these conditions. Abnormalities of two different proteins associated with dystrophin in the muscle fibre have been shown in severe childhood autosomal recessive muscular dystrophy and Fukuyama muscular dystrophy. The application of the techniques of molecular genetics to the muscular dystrophies has had an enormous impact, from enhancing understanding of the theoretical background of these diseases, to direct implications in their clinical management. These advances are likely to continue.
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PMID:The muscular dystrophies. 795 55


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