Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C1762617 (weakness)
 37,932 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

Five cases of Emery-Dreifuss muscular dystrophy in four generations of a family was reported. It is a rare form X-linked recessive muscular dystrophy. The distinctive features of this disease are: Firstly, early contractures of elbows and achilles tendons and posterior cervical muscles are revealed. Secondly, muscle weakness is more proximal (scapulo-humeral) in the upper limbs and distal (anterior tibial and peroneal muscle) in the lower limbs. Thirdly, there is no calf pseudohypertrophy. Fourthly, myocardial involvement with cardiac conduction defects is frequent and important features. The CPK level is usually slightly raised. In our report, the EMG and muscle biopsies showed a mixed pattern of neurogenic and myogenic changes.
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PMID:[Emery-Dreifuss muscular dystrophy--reported a family with 5 cases]. 180 56

Emery-Dreifuss muscular dystrophy (EDMD) is a rare X-linked muscular dystrophy characterized by early contractures, progressive muscle weakness, and atrial arrhythmias. Recent reports suggest that there may be additional cardiac problems in affected males and that carrier females may also show ECG abnormalities. We restudied two large families with EDMD in order to determine the extent of these problems. We examined 10 affected males and interviewed 2 others. The 3 affected males less than 20 years old had no ECG changes. All affected men of 35 years or older had arrhythmias. One had more severe arrhythmias when asleep, indicating the usefulness of continuous 24-h ECG monitoring in the evaluation of males affected with EDMD. Two required pacemakers, 4 had already had a pacemaker placed, and 4 other affected men with pacemakers had died prior to this study. One affected man with a pacemaker developed ventricular bigeminy and another developed congestive heart failure. Thus of 10 affected males with pacemakers, 6 had additional cardiac symptoms and 4 have died. Males with EDMD may survive longer with a ventricular pacemaker, but this may increase the likelihood that they will develop cardiomyopathy and ventricular arrhythmias. Of 34 carrier females examined, 6 had arrhythmias typical of EDMD. Two required a pacemaker. The risk of arrhythmia increased with age. Results from one family should be extrapolated to another with caution, as there appears to be significant interfamilial variation. We suggest careful cardiologic follow-up of EDMD patients and regular cardiac evaluations for older carrier females.
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PMID:Progression of cardiac disease in Emery-Dreifuss muscular dystrophy. 204 91

Orthopedic deformities in Emery-Dreifuss muscular dystrophy are discussed based on a study of four patients and an extensive literature review. The condition is characterized by slowly progressive humeroperoneal muscle weakness; ankle equinus, elbow flexion, and neck extensor muscle contractures; paravertebral muscle tightness; and cardiac abnormalities involving bradycardia and atrioventricular conduction defects. Tendo Achilles lengthening is warranted, since patients remain ambulatory for several decades. Scoliosis occurred in three patients but stabilized in the absence of treatment. Recognition of the condition is important to allow for heart pacemaker insertion because the usually asymptomatic cardiac abnormalities are associated with a high incidence of sudden death in mid-adult life.
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PMID:Orthopedic deformities in Emery-Dreifuss muscular dystrophy. 205 82

Emery-Dreifuss muscular dystrophy is characterised by the triad of (1) early contractures of the elbows, Achilles tendons, and postcervical muscles; (2) slowly progressive muscle wasting and weakness with a humeroperoneal distribution in the early stages; and (3) a cardiomyopathy usually presenting as heart block. The early recognition of the condition is essential because the insertion of a cardiac pacemaker can be life saving. The disorder is usually inherited as an X linked recessive trait (linked to DNA markers around Xq28). However, occasionally it can be inherited as an autosomal dominant trait and there is an indication that this and the X linked form may in some cases have a neurogenic basis. For these reasons it has recently been proposed that the appellation 'Emery-Dreifuss syndrome' be used for this triad of symptoms and signs.
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PMID:Emery-Dreifuss syndrome. 268 12

A 37-year-old woman with scapulohumeral muscular atrophy, rigid spine and cardiopathy is reported. Muscle weakness, advanced atrioventricular block and contractures at the neck, elbows and ankles had occurred during her childhood. An autosomal dominant mode of inheritance was suggested because her mother, sister and brother had the same disorder. Pleomorphic mitochondria had accumulated in the subsarcolemmal space of the skeletal muscle. There was no evident enzyme defect in the mitochondrial electron transport system. Although the clinical features had some similarity with those of Emery-Dreifuss muscular dystrophy or rigid spine syndrome, the pattern of inheritance and the muscle pathology differed.
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PMID:Familial myopathy with scapulohumeral distribution, rigid spine, cardiopathy and mitochondrial abnormality. 291 28

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

Emery-Dreifuss muscular dystrophy is an X-linked recessive condition characterized by mild muscular weakness predominantly in a humero-peroneal distribution with variable facial involvement. Onset is in childhood with slow progression of weakness. The disease is often associated with cardiac involvement, mainly with bradyarrhythmias which might be responsible for sudden death. The most striking finding derived from the literature is the high incidence of sudden death; in the 7 large families described, out of the 79 reported patients 32 died suddenly at a young age (between 25 and 56 years). We performed a cardiologic evaluation of 11 subjects of a large italian family with affected males in four generations: 5 affected males (3 adults and 2 boys), 3 carriers and 3 healthy relatives (2 females and 1 male). Supraventricular arrhythmias were documented either in the dystrophic males or in the carriers. There was no correlation between the severity of cardiac rhythm abnormality and the severity of muscular weakness in the affected males, 3 of whom required pacemaker insertion. All the carriers were free of muscular involvement, but showed arrhythmias of variable degree, in one case requiring pacemaker insertion. In conclusion our data indicate an extremely high incidence of bradyarrhythmias, sometimes serious, in patients with Emery-Dreifuss muscular dystrophy. Holter monitoring is therefore mandatory and electrophysiological study is sometime necessary. Because of the high risk of sudden death in adult patients, we recommend permanent pacemaker implantation even in asymptomatic subjects, as soon as bradyarrhythmias are detected.
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PMID:[Cardiologic evaluation in a family with Emery-Dreifuss muscular dystrophy]. 367 9


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