Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Fourteen patients suffering from primary muscular disease (myopathies), including seven with Duchenne's muscular dystrophy, were compared to 11 patients whose neuromuscular disorders were of neuropathic origin. Mesioclusion was observed only in the group with Duchenne's muscular dystrophy. Posterior crossbite, anterior open bite, mouth breathing, and large tongue were also more prevalent in the group with myopathies, especially the Duchenne's patients, than they were in the group with neurogenic disorders. The Duchenne's patients exhibited a statistically significant delay in dental emergence, unlike the patients with other myopathies and those with neurogenic disorders. Dentition and occlusion may be more affected in patients with myopathies, especially Duchenne's muscular dystrophy, than they are in patients with neurogenic disorders.
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PMID:The effect of neuromuscular diseases on the development of dental and occlusal characteristics. 189 7

Posterior tibial somatosensory evoked potentials were recorded from 10 patients with Duchenne-type progressive muscular dystrophy (DMD). The results of the patients were compared with age-matched controls. The ratio of height to latency (H/P38 and H/N22-P38) decreased significantly in DMD, which indicated central conduction disturbances in DMD.
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PMID:Posterior tibial somatosensory evoked potentials in Duchenne-type progressive muscular dystrophy. 243 Jul 76

Hypernatremia has occasionally been observed in patients with myotonic muscular dystrophy (MyD). To elucidate the possibility of osmoregulatory dysfunction, we investigated hypothalamo-posterior pituitary function as well as serum electrolytes in eight patients with MyD. Blood samples were obtained early in the morning after overnight dehydration. Renal function was estimated by blood urea nitrogen, serum creatinine and creatinine clearance. Posterior pituitary function was evaluated by direct measurement of plasma vasopressin (AVP) during a 5% hypertonic saline infusion. Plasma AVP concentrations were determined by sensitive radioimmunoassay. In five patients, circulating blood volume (CBV), plasma renin activity (PRA) and serum aldosterone (S-Aldo.) were also measured. The mean serum sodium level (143.9 +/- 1.7mEq/1: Mean +/- SD) was significantly higher than in the controls (139.4 +/- 2.2mEq/1). A 5% hypertonic saline infusion showed a subnormal increase in AVP and diminished thirst, despite sufficient elevation of plasma osmolality, in all patients as compared with healthy adults. Renal function was intact. Biochemical evidence of dehydration, estimated by PRA, S-Aldo and CBV, was unremarkable in four of the five patients. These findings suggest that patients with MyD have neurogenic disorders of osmoregulation in addition to previously reported endocrine abnormalities. Impaired AVP secretion in response to osmotic stimuli and reduced thirst might be responsible for such failure.
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PMID:[Impaired vasopressin secretion in patients with myotonic dystrophy]. 328 99

Seventy-nine pediatric patients with neuromuscular diseases were examined for dental and occlusal characteristics. Fifty-six patients suffered from primary muscle disease (myopathies) including 43 with Duchenne's muscular dystrophy. The neuromuscular disorders in 19 patients were of neuropathic origin, while four were caused by a fault in the neuromuscular junction. Posterior crossbites occurred more often in the myopathies (57%) as compared with the neurogenic dystrophies (14%) (P less than 0.003). Although not statistically significant, the prevalence of open bite was also higher in the combined myopathies (21%) as compared with neurogenic disorders (9%). The Duchenne patients exhibited a statistically significant delay in dental emergence (1.06 years), unlike the other myopathies (0.31 years) and the neurogenic disorders groups (-0.03 years). This study emphasizes the influence of muscular environment on dental development in general. The dentition may be more affected in muscular dystrophies stemming from degenerative or inflammatory muscle damage than in those originating from nerve malfunction or disorder of the neuromuscular junction.
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PMID:Dental and occlusal characteristics of children with neuromuscular disease. 342 27

Feeding problems in patients with neuromuscular diseases are frequently underestimated and poorly analyzed. To gain a better understanding of the most common complaints, we surveyed 451 patients and received 409 responses representing seven disorders. Difficulties in the pre-oral phase of swallowing were encountered primarily in Duchenne muscular dystrophy (DMD), limb-girdle muscular dystrophy (LGMD), facio-scapulo-humoral muscular dystrophy (FSHMD), and spinal muscular atrophy (SMA). A limitation in the ability to open the mouth was also noted in SMA. Some features are characteristic of certain diseases such as macroglossia in DMD and dryness of the mouth in dermatomyositis and polymyositis (DMPM) and myasthenia gravis (MG). Posterior swallowing time is especially affected in MG, dermatomyositis and polymyositis, LGMD, and SMA. Overall prevalence of feeding disability in five disorders (SMA, myotonic dystrophy [MD], DMPM, FSHMD, MG) was 34.9%. A better understanding of the swallowing problems associated with these disorders may help in choosing treatment possibilities, technical aids, adaptation of the consistency of foods, swallowing rehabilitation, and nutritional support by the non-oral route.
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PMID:Swallowing problems in neuromuscular disorders. 797 25

Nineteen patients with Duchenne's muscular dystrophy underwent segmental spinal instrumentation and posterior fusion between 1989 and 1994. The indication for surgery was loss of the ability to walk and development of scoliosis with sitting discomfort. Preoperative assessment included evaluation of pulmonary function. Average age at operation was 12.5 years. Instrumentation and fusion extended from upper thoracic levels to L-5 or the sacrum. A Hartshill rectangle was used in all cases, with banked allograft bone. Severe intraoperative blood loss was avoided by use of hypotensive anaesthesia. Peroperatively, systolic blood pressure was maintained between 75 and 85 mm Hg. Average blood loss was 1,246 ml (range, 400-3,100) or 30% of estimated total blood volume. Average transfusion requirements were 3 units of packed cells. Postoperative analgesia was provided by infusion via an epidural catheter. There were no postoperative wound or chest infections. Three patients required catheterisation for urinary retention. Postoperatively patients were fitted with a Neofract jacket to allow early mobilisation and discharge. Mean postoperative length of stay was 16 days. Posterior spinal fusion by using the Hartshill rectangle provided good correction and fixation. Hypotensive anaesthesia permitted surgery to be performed rapidly in a relatively dry field and avoided the complications of severe intraoperative blood loss and massive transfusion.
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PMID:Spinal instrumentation for Duchenne's muscular dystrophy: experience of hypotensive anaesthesia to minimise blood loss. 959 68