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)

Immunocytochemical analysis of the laminin alpha-2 (merosin) chain in the muscle of patients with Classic Congenital Muscular Dystrophy (Cl-CMD) differentiates the types of the disease associated with a merosin deficit from those that are merosin positive. Patients with Central Nervous System involvement in merosin negative Cl-CMD always present alterations of the white matter at RMI, but usually these are not clinically significant. While ocular malformations (microphthalmia, alterations of the anterior chamber, of the retina, or of the angle and cataract) and damage to the Central Nervous System are described in some subtypes of CMD (Muscle Eye Brain disease, Walker Warburg Syndrome), ocular involvement and retino-cortical conduction in merosin negative Cl-CMD are not well known. This study reports on four patients affected by merosin negative Cl-CMD. All these patients presented important alterations of the white matter associated with ventricular enlargement and, in one case, with pachygyria and micropolygyria. Refraction, visual acuity, ocular motility, anterior segment and fundus were examined. ERG Maximal, Cone and Rod response, VEP transient pattern reversal was carried out as well. Significant alterations at the standard ophthalmologic examination or of the electroretinogram responses were not registered while, in all cases, important modifications in retino cortical conduction (reduction in amplitude, increase in latency, reduction in amplitude on the lateral derivations) were observed, demonstrating involvement of the optic pathway at different levels during the course of this disease.
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PMID:Alterations of the retino-cortical conduction in patients affected by classical congenital muscular dystrophy (CI-CMD) with merosin deficiency. 1094 99

The lack of dystrophin in mdx mice leads to cycles of muscle degeneration and regeneration processes. Various strategies have been proposed in order to reduce the muscle-wasting component of muscular dystrophy, including implementation of an exercise programme. The aim of this study was to examine how low-intensity endurance exercise affects the degeneration-regeneration process in dystrophic muscle of male mdx mice. Mice were subjected to low-intensity endurance exercise by running on a motorized Rota-Rod for 5 days/week for 6 weeks. Histomorphological analysis showed a significant reduction of measured inflammatory-necrotic areas in both gastrocnemius and quadriceps muscle of exercised mdx mice as compared to matched sedentary mdx mice. The degenerative-regenerative process was also evaluated by examining the protein levels of connexin 39 (Cx39), a specific gene expressed in injured muscles. Cx39 was not detected in sedentary wild type mice, whereas it was found markedly increased in sedentary mdx mice, revealing active muscle degeneration-regeneration process. These Cx39 protein levels were significantly reduced in muscles of mdx mice exercised for 30 and 40 days, revealing together with histomorphological analysis a strong reduction of degeneration process in mice subjected to low-intensity endurance exercise. Muscles of exercised mdx mice did not show significant changes in force and fatigue resistance as compared to sedentary mdx mice. Overall in this study we found that specific low-intensity endurance exercise induces a beneficial effect probably by reducing the degeneration of dystrophic muscle.
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PMID:Recovery of damaged skeletal muscle in mdx mice through low-intensity endurance exercise. 2386 81

The article represents a retrospective clinical and radiological study. Objectives. Evaluating the safety and efficiency of the surgical treatment by using the Unit Rod for scoliosis in adolescents and children presenting Duchenne's muscular dystrophy. Summary. Surgical management of myopathic scoliosis still causes controversies regarding the timing of surgery (patient's age), the pelvic inclusion in the arthrodesis or the advantages of surgery over the conservatory treatment. The patients are very fragile and a long surgery with massive blood loss could lead to serious complications. Unit Rod instrumentation is simple, confers excellent stability and has a low rate of complications. Methods. This is a retrospective clinical and radiological study with a medium follow-up of 6.9 years including 13 patients diagnosed with Duchenne myopathy. All investigated patients were non-ambulatory at the time of surgery and have been treated by the Unit Rod technique at the University Hospital of Rouen between 2002 and 2008. Spinal fusion was, in all cases, realized from T2 to pelvis. Galveston technique of pelvic fixation and Luque's sublaminar wire instrumentation of the spine were used. Results. The results obtained with this treatment and post-surgery complications were analyzed and compared with those from literature. The advantages of this technique consist mostly in a good and stable pelvic fixation, a short interventional time, a minimal blood loss and few complications. Cobb angle correction is similar to that obtained by other surgical procedures. Conclusions. Using the Unit Rod instrumentation of scoliosis in Duchenne's muscular dystrophy is safe, has excellent outcomes, brings post-surgery improvements, and has minor intra and post-surgery complications. The low cost of this treatment could make it a first choice for medical health systems with financial problems.
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PMID:Evaluation of the Unit Rod surgical instrumentation in Duchenne scoliosis. A retrospective study. 2792 52

The objective of this investigation was to determine the outcome of spine fusion for neuromuscular (NM) scoliosis, using Unit Rod technique, with emphasis on complications related to preoperative general health. Between 1997 and 2007, 96 consecutive patients with neuromuscular scoliosis operated on with Unit Rod instrumentation were retrospectively reviewed. The inclusion criteria were diagnosis of NM scoliosis due to cerebral palsy (CP) and muscular dystrophy (DMD). Patient's preoperative general health, weight, and nutrition were collected. Different radiographic and clinical parameters were evaluated. There were 66 CP patients (59 nonwalking) and 30 DMD patients (24 nonwalking). Mean age at surgery was 16.5 years and 13.9 years, respectively. All radiographic measurements improved significantly. Wound infection rate was 16.7% (11% of reoperation rate in CP; 10% in DMD; 3 hardware removal cases). No pelvic fracture due to rod irritation was observed. Unit Rod technique provides good radiographic and clinical outcomes even if this surgery is associated with a high complication rate. It is a quick, simple, and reliable technique. Perioperative management strategy should decrease postoperative complications and increases outcome. A standardized preoperative patient evaluation and preparation including respiratory capacity and nutritional, digestive, and musculoskeletal status are mandatory prior to surgery.
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PMID:Experience in Perioperative Management of Patients Undergoing Posterior Spine Fusion for Neuromuscular Scoliosis. 2805 56