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

Development of portable ventilators has enabled patients suffering from respiratory failure to live outside hospitals. The number of patients with neuromuscular disorders receiving home mechanical ventilation (HMV) has been increasing year by year. However, Japanese social support services are not sufficient for these patients. Thus, we tried to establish a system to support patients under HMV using SpO2 monitoring system and videoconference system. Pulse oximeter was connected to a portable personal computer, which stores real-time data and send daily data to hospital. The computer in our hospital receives patient's data and prints out it as a trend-graph, which enables medical staffs to know patient's condition. When SpO2 deteriorates significantly, alarm system works automatically to warn patient's family. In case SpO2 worsens more severely, alarm also warns medical staffs in our hospital to call the patient to confirm patient's condition and to give advices. Videoconference system was also introduced to communicate quickly and correctly. Thirty-four patients with progressive muscular dystrophy attended this study after informed consents. They used these systems in the period between discharge and first visit to hospital. Videoconference system was utilized in only two patients, because it required a digital line. These systems were effective in decreasing anxieties of patients and their families about HMV. According to daily check, 16 of 34 patients showed temporary deterioration of respiratory condition, although all patients had been in good condition in hospital. Loosening of the belt of nasal mask, air leak from opened mouth were frequent causes for the deteriorations. These problems could be corrected smoothly after discussion and advices. Thus this system was very useful to establish good respiratory management in a short period. Monitoring system also detected troubles of ventilators. Two patients showed progressive worsening of SpO2 day by day, however we could not find any problems in their respiratory managements. When we checked the ventilator, there were lumps of dust at the upper-pressure limit valves, which caused air leak. It was revealed that 3 of 27 ventilators had the same troubles, which caused leaks more than 10% of the flow volume. This fact proved that this system was also effective to prevent severe troubles from unexpected problems about HMV. Videoconference system enabled us to communicate quickly and correctly. It was also convenient to give advices. It is quite difficult for ordinary people to explain and understand physical condition and methods to handle respirator with only oral communication. Visual communication solved these troubles almost completely. Although there are some problems about this system including high cost and quality of picture, it is undoubtedly powerful tool. It is natural for patients with respiratory failure to wish to stay their home, when they possessed portable respirators. So it is important to decrease the risk related to HMV. We verified that the combination of monitoring system and multimedia can produce effective support system. It is important to improve these systems and cut down the cost for popularization.
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PMID:[A pilot study to establish a support system using SpO2 monitoring system and videoconference system for patients under home mechanical ventilation]. 1118 5

The West Virginia Supreme Court of Appeals held that a hospital was not liable for the failure of a privately-retained physician to obtain informed consent for a "do not resuscitate" (DNR) order. Therefore, the parents of a deceased patient were unsuccessful in their wrongful death lawsuit against the hospital at which their 17-year-old son's private physician had treated him. The physician had issued a DNR order for the young man, who had muscular dystrophy and recurring respiratory failure. Although the parents had signed a consent form, they later contended that their son should have been consulted prior to the issuance of the DNR order. The appellate court held that, in determining the liability of the physician, the trial court should have instructed the jury about the concept of a "mature minor," in which children in certain circumstances are considered capable of giving consent to medical treatment.
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PMID:Belcher v. Charleston Area Medical Center. 1204 26

Multiminicore disease (MmD) is an autosomal recessive congenital myopathy characterized by the presence of multiple, short core lesions (known as "minicores") in most muscle fibers. MmD is a clinically heterogeneous condition, in which four subgroups have been distinguished. Homozygous RYR1 mutations have been recently identified in the moderate form of MmD with hand involvement. The genes responsible for the three other forms (including the most prevalent phenotype, termed the "classical" phenotype) remained, so far, unknown. To further characterize the genetic basis of MmD, we analyzed a series of 62 patients through a combined positional/candidate-gene approach. On the basis of clinical and morphological data, we suspected a relationship between classical MmD and the selenoprotein N gene (SEPN1), which is located on chromosome 1p36 (RSMD1 locus) and is responsible for the congenital muscular dystrophy with rigid spine syndrome (RSMD). A genomewide screening, followed by the analysis of 1p36 microsatellite markers in 27 informative families with MmD, demonstrated linkage to RSMD1 in eight families. All showed an axial myopathy with scoliosis and respiratory failure, consistent with the most severe end of the classical MmD spectrum; spinal rigidity was evident in some, but not all, patients. We excluded linkage to RSMD1 in 19 families with MmD, including 9 with classical MmD. Screening of SEPN1 in the 8 families that showed linkage and in 14 patients with classical sporadic disease disclosed 9 mutations affecting 17 patients (12 families); 6 were novel mutations, and 3 had been described in patients with RSMD. Analysis of three deltoid biopsy specimens from patients with typical RSMD revealed a wide myopathological variability, ranging from a dystrophic to a congenital myopathy pattern. A variable proportion of minicores was found in all the samples. The present study represents the first identification of a gene responsible for classical MmD, demonstrates its genetic heterogeneity, and reassesses the nosological boundaries between MmD and RSMD.
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PMID:Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. 1219 40

The neuromuscular diseases, such as infantile spinal muscular atrophy, Duchenne's muscular dystrophy, and amyotrophic lateral sclerosis, are widely considered to be terminal illnesses. However, as with many neuromuscular and neurologic diseases, morbidity and mortality are caused by dysfunction of inspiratory, expiratory, and bulbar musculature. This article will discuss how inspiratory and expiratory musculature can be supported by simple, noninvasive means that are rarely considered when, as with the general population, individuals with disabilities are counseled about advance directives. Failure to use noninvasive aids almost invariably results in respiratory failure, intubation, and tracheostomy or death. When noninvasive aids are available, invasive measures referred to in advance directives (eg, intubation) are often needed only temporarily. Yet, ill-informed patients are often advised to refuse intubation and die or to be intubated and left to decide whether to undergo tracheostomy for long-term ventilatory support. Further, despite severe disability, ventilator users with neuromuscular disease report normal life satisfaction. Health care professionals, on the other hand, tend to ignore the patient's life satisfaction and consider quality of life measures not designed for the disabled to justify withholding life-saving interventions. Advance directives, although sometimes appropriate for patients with irretractable pain and advanced cancer, are inappropriate for patients with severe disability because of muscle weakness, and virtually no patients are appropriately counseled about all therapeutic options.
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PMID:Threats to "informed" advance directives for the severely physically challenged? 1269 68

Bordetella bronchiseptica are small, pleomorphic Gram-negative coccobacilli which are commensal organisms in the upper respiratory tract of many wild and domestic animals ('kennel cough' in dogs). While it is common for health care providers to ask about exposure to ill family/friends, most do not routinely inquire about the health or immunization status of household pets. We report two cases of B. bronchiseptica pneumonia in lung transplant recipients [cystic fibrosis (CF); ages 10 and 15 yr; one male] who contracted B. bronchiseptica from pet dogs. We compared their course and outcome to four children (two CF, one congenital heart disease and one Duchenne's muscular dystrophy; four males, age range 6 months to 14 yr) with B. bronchiseptica cultured from the respiratory tract. Two of the four patients also acquired their illnesses from pet dogs and two from unknown sources. One lung transplant recipient expired from progressive respiratory failure. We conclude that B. bronchiseptica can cause serious infections in both immunosuppressed and immunocompetent children. We speculate that a detailed history of exposure to ill pets (particularly dogs), and the immunization status of all pets should be included in the routine evaluation of all pediatric transplant recipients.
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PMID:Bordetella bronchiseptica infection in pediatric lung transplant recipients. 1473 6

A 40 year old mother of three with autosomal dominant scapuloperoneal muscular dystrophy presented with severe neurogenic respiratory failure requiring nocturnal non-invasive ventilation (NIV). Because of the development of profound proximal muscular weakness as a consequence of the progressive nature of her neurological disease, she eventually was unable to apply and remove the facial interface to set up her NIV circuit. She therefore became dependent on her children and carers to start and stop NIV during the night. A rocking bed was successfully employed as an alternative to nocturnal NIV. Ventilation was facilitated by the passive movement of the diaphragm as a consequence of the movement of the abdominal contents under the effect of gravity. Benefit was demonstrated objectively by pulse oximetry and subjectively by the improvement in the patient's symptomatology and continued independence at night. The ease of use of a rocking bed should be borne in mind when the necessity for nocturnal ventilatory support in neuromuscular disease results in the potential loss of independence for a patient.
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PMID:Rocking bed and prolonged independence from nocturnal non-invasive ventilation in neurogenic respiratory failure associated with limb weakness. 1519 73

We report 5 cases (2 familial and 3 sporadic) who share a diagnosis of congenital muscular dystrophy (CMD) in association with short stature, proximal contractures, rigidity of the spine and distal joint laxity as well as early respiratory failure and mild to moderate mental retardation. The expression of collagen VI was confirmed to be normal on muscle biopsies of all 5 patients and in the informative family linkage to any of the three COL6 A loci was excluded. These findings extend the phenotypes within the CMD classification.
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PMID:Congenital muscular dystrophy with short stature, proximal contractures and distal laxity. 1532 61

Glycogen storage disease type II (GSDII) is caused by a lack of functional lysosomal acid alpha-glucosidase (GAA). Affected individuals store glycogen in lysosomes beginning during gestation, ultimately resulting in fatal hypertrophic cardiomyopathy and respiratory failure. We have assessed the utility of recombinant adeno-associated virus (rAAV) vectors to restore GAA activity in vivo in a mouse model of GSDII (Gaa(-/-)). A single systemic administration of a rAAV serotype 1 (rAAV1) vector to neonate animals resulted in restored cardiac GAA activity to 6.4 times the normal level (mean=641+/-190% of normal (Gaa(+/+)) levels with concomitant glycogen clearance) at 11 months postinjection. Greater than 20% of normal levels of GAA activity were also observed in the diaphragm and quadriceps muscles. Furthermore, functional correction of the soleus skeletal muscle was also observed compared to age-matched untreated Gaa(-/-) control animals. These results demonstrate that rAAV1 vectors can mediate sustained therapeutic levels of correction of both skeletal and cardiac muscles in a model of fatal cardiomyopathy and muscular dystrophy.
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PMID:Sustained correction of glycogen storage disease type II using adeno-associated virus serotype 1 vectors. 1592 Apr 63

Respiratory failure is an important terminal event in muscular dystrophy, but increasingly is effectively treated by non-invasive ventilation. This study was designed to assess mortality statistics in this patient group in order to get an indication of future demand. Mortality data for all deaths from muscular dystrophy registered by death certification in England and Wales between 1993 and 1999 were analysed. In total, 817 deaths from muscular dystrophy were registered between 1993 and 1999. Annual number of deaths was unchanged over this period. Median age at death (interquartile range) for all cause muscular dystrophy increased from 20 (17-42.5) years in 1993, to 26 (17.5-63) years in 1999. Respiratory failure was the primary or contributory cause of death in 82% of cases. Two thirds of these deaths were during acute infection. We can expect 100 patients with muscular dystrophy to develop respiratory failure in England and Wales each year, so non-invasive ventilation services probably need to be able to provide for 0.2 new patients per 100,000 population annually. Respiratory services also need to provide adequate monitoring and early treatment of infection in these patients.
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PMID:Trends in survival from muscular dystrophy in England and Wales and impact on respiratory services. 1625 21

Both the dystrophin-glycoprotein complex and alpha7beta1 integrin have critical roles in the maintenance of muscle integrity via the provision of mechanical links between muscle fibres and the basement membrane. Absence of either dystrophin or alpha7 integrin results in a muscular dystrophy. To clarify the role of alpha7 integrin and dystrophin in muscle development and function, we generated integrin alpha7/dystrophin double-mutant knockout (DKO) mice. Surprisingly, DKO mice survived post-natally and were indistinguishable from wild-type, integrin alpha7-deficient and mdx mice at birth, but died within 24-28 days. Histological analysis revealed a severe muscular dystrophy in DKO mice with endomysial fibrosis and ectopic calcification. Weight loss was correlated with the loss of muscle fibres, indicating that progressive muscle wasting in the double mutant was most likely due to inadequate muscle regeneration. The data further support that premature death of DKO mice is due to cardiac and/or respiratory failure. The integrin alpha7/dystrophin-deficient mouse model, therefore, resembles the pathological changes seen in Duchenne muscular dystrophy and suggests that the different clinical severity of dystrophin deficiency in human and mouse may be due to a fine-tuned difference in expression of dystrophin and integrin alpha7 in both species. Together, these findings indicate an essential role for integrin alpha7 in the maintenance of dystrophin-deficient muscles.
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PMID:Absence of alpha 7 integrin in dystrophin-deficient mice causes a myopathy similar to Duchenne muscular dystrophy. 1647 7


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