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

Detailed analysis of the literature and the study of personal cases have led the authors to propose a new concept for facio-scapulo-humeral dystrophy. They consider it to be a syndrome, embracing under the same clinical picture both muscular disease (classical hereditary muscular dystrophy, congenital and acquired myopathies) and neurological disease (in particular progressive pseudomyopathic amyotrophy).
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PMID:[Landouzy-Dejerine syndrome. Evolution of the concept of facio-scapulo-humeral amyotrophia]. 92 32

In a Nigerian town with a stable population of 20,000, a door-to-door survey was conducted, using a questionnaire involving a complete census and a simple neurological evaluation which had previously showed a 95% sensitivity and an 80% specificity for detecting neurological disease. Positive responders were evaluated and categorised, using agreed criteria for diagnoses. Nearly 100% cooperation was obtained. Life prevalence ratio for at least one episode of headache was 51/1000. Crude point prevalence ratio for migrainous headache was 5.3/100, and peak age-specific ratio was in the first decade. Prevalence ratio for epilepsy was 533/100,000 and peak age-specific prevalence ratio occurred in the 5-14 years age groups. The prevalence ratio for peripheral nerve disorders was 268/100,000, and age-specific prevalence ratio for tropical neuropathy increased with age. Prevalence ratio for stroke was rather low at 58/100,000, but was probably due to the people's attitude to the disabled elderly and high mortality of stroke which showed annual mortality rate of 70/100,000 which increased with age to 1519/100,000 per year in the eighth decade. Crude prevalence ratios (cases per 100,000) for others are 112 for neurological complications (including sciatica) of spondylosis, 15 each for poliomyelitis, motor neurone disease, development speech disorders, 10 each for syncope, hereditary neuropathies. Parkinson's disease, benign essential tremor, primary cerebellar degeneration, cerebral palsy, mental retardation, organic psychosis (probable intracranial tumor) and 5 each for muscular dystrophy, pyomyositis, spina bifida occulta, alcohol dependence and cerebral malaria. The implications of the findings are important for development of community neurological services in the developing countries.
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PMID:Neurological disorders in Nigerian Africans: a community-based study. 303 73

In 19 patients with Duchenne's muscular dystrophy, left ventricular wall thickness in end-systole and end-diastole was determined serially every 12 months by echocardiography and compared with ventricular wall growth in normal subjects. In the normal subjects, left ventricular wall thickness increased linearly with increasing body surface area. A control group of wheelchair-bound patients with a variety of neurologic disorders, although not followed serially, had a distribution of end-diastolic wall thickness values similar to that of the normal subjects. In patients with muscular dystrophy, wall thickness increased linearly with respect to body surface area for some time and then began to thin. The time at which thinning began was not directly related to age, although it was more common in older than in younger patients. Those patients who died demonstrated marked deviation from normal wall growth. Free wall thinning is probably a result of fibrosis and loss of myofibrils.
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PMID:Serial left ventricular wall measurements in Duchenne's muscular dystrophy. 685 8

Both achalasia and Hirchsprung's disease arise from defects of innervation of the oesophagus and distal large bowel respectively. Their consequences are confined to disorders of motility in the relevant part of the gastrointestinal tract. Many neurogenic and primary muscle disorders are associated with abnormalities of gut motility. Stroke, even when unilateral, is commonly associated with dysphagia. Transcranial magnetoelectric stimulation has established that the pharyngeal phase of swallowing tends to receive its innervation principally from one hemisphere. In many neurological disorders, dysphagia is only one part of the clinical picture but in some--for example, the Chiari malformation--dysphagia may be the sole or major feature. Disturbances of small and large bowel motility, when seen in neurogenic disorders, are associated with autonomic neuropathy and are particularly common in diabetes mellitus. Primary muscle disorders can lead to dysphagia (for example, with polymyositis or oculopharyngeal dystrophy) or defects of large bowel motility (for example, with Duchenne's muscular dystrophy). Primary gut disorders particularly associated with neurological disease include pernicious anaemia, nicotinamide and thiamine deficiencies, selective vitamin E deficiency, and coeliac disease. Inflammatory bowel disease is associated with thromboembolic complications which may include the CNS, inflammatory muscle disease, and abnormalities on MRI of the brain of uncertain relevance. Whipple's disease is a rare condition which sometimes is largely or entirely confined to the CNS. In such cases, a particular neurological presentation can indicate the diagnosis.
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PMID:Neurology and the gastrointestinal system. 1040 May 14

Abdominal trussing constitutes an inward fixation of the abdominal wall. In the context of speech habilitation/rehabilitation, it is sometimes used to supplant, in part, the function of a paralyzed or paretic abdominal wall. A paralyzed or paretic abdominal wall may be found in individuals with cervical spinal cord injury or in individuals with other neurologic disorders, such as muscular dystrophy. This research was designed to study the effects of trussing as a dinical treatment. A study was designed to systematically and precisely place the abdominal wall at one position (50% inward) to study the effects of trussing (as compared to an untrussed condition) on lung volume and oral reading in three men with cervical spinal cord injury (C5-C6). Results showed that abdominal trussing increased vital capacity, realized via an increase of inspiratory capacity, presumably by optimization of the function of the diaphragm. With the increase in inspiratory capacity, longer utterance duration for oral reading was observed. With increased utterance duration, more syllables were produced per utterance, and pauses occurred at appropriate linguistic locations. Oral reading samples for trussed and untrussed conditions were submitted to preference judgment by a group of 10 judges. For two of the three men studied, oral reading during trussing was preferred because of longer phrases and pauses taken at suitable linguistic boundaries. The findings from this study support clinical impressions that abdominal trussing may be useful in improving speech in individuals with a paralyzed or paretic abdomen whose breathing function for speech is diminished.
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PMID:Effects of abdominal trussing on breathing and speech in men with cervical spinal cord injury. 1152 69

Pediatric neurologic diseases are often associated with different kinds of sleep disruption (mainly insomnia, less frequently hypersomnia or parasomnias). Due to the key-role of sleep for development, the effort to ameliorate sleep patterns in these children could have important prognostic benefits. Study of sleep architecture and organization in neurologic disorders could lead to a better comprehension of the pathogenesis and a better treatment of the disorders. This article focuses on the following specific neurologic diseases: nocturnal frontal lobe epilepsy and abnormal motor behaviors of epileptic origin, evaluating differential diagnosis with parasomnias; achondroplasia, confirming the crucial role of craniofacial deformity in determining sleep-disordered breathing; neuromuscular diseases, mainly Duchenne's muscular dystrophy and myotonic dystrophy; cerebral palsy, evaluating either the features of sleep architecture and the importance of the respiratory problems associated; headaches, confirming the strict relationships with sleep in terms of neurochemical and neurobehavioral substrates; and finally a review on the effectiveness of melatonin for sleep problems in children with neurologic syndromes and mental retardation, blindness, and epilepsy.
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PMID:Sleep disorders in children with neurologic diseases. 1176 88

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

Type 1 myotonic dystrophy or DM1 (Steinert's disease), which is the commonest muscular dystrophy in adults, has intrigued physicians for over a century. Unusual features, compared with other dystrophies, include myotonia, anticipation, and involvement of other organs, notably the brain, eyes, smooth muscle, cardiac conduction apparatus, and endocrine system. Morbidity is high, with a substantial mortality relating to cardiorespiratory dysfunction. More recently a second form of multisystem myotonic disorder has been recognized and variously designated as proximal myotonic myopathy (PROMM), proximal myotonic dystrophy (PDM), or DM2. For both DM1 and DM2 the molecular basis is expansion of an unstable repeat sequence in a noncoding part of a gene (DMPK in DM1 and ZNF9 in DM2). There is accumulating evidence that the basic molecular mechanism is disruption of mRNA metabolism, which has far-reaching effects on many other genes, in part through the induction of aberrant splicing, explaining the multisystemic nature of the disease. The unstable nature of the expansion provides a molecular explanation for anticipation. This review emphasizes the clinical similarities and differences between DM1 and DM2. It examines current views about the molecular basis of these disorders, and contrasts them with other repeat expansion disorders that have increasingly been recognized as a cause of neurological disease.
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PMID:Clinical and molecular aspects of the myotonic dystrophies: a review. 1577 Jun 60

Asphyxia, not an uncommon cause of sudden death, may result from numerous etiologies. Foreign-body aspiration and strangulation are 2 extrinsic causes. Airway obstruction may also be caused by laryngeal edema, asthma, infection, or anaphylaxis. Chronic causes of asphyxia include musculoskeletal diseases (eg, muscular dystrophy, amyotrophic lateral sclerosis), neurologic disorders (eg, myasthenia gravis, multiple sclerosis), respiratory disease (eg, emphysema, chronic bronchitis), or tumors. The manner of death in cases of asphyxiation may be natural, accidental, homicide, or suicide. For the death investigator, determining the cause and manner of death can often be quite challenging. We report here 2 cases of an esophageal fibrovascular polyp causing sudden asphyxial death, review of the literature, and discussion of other differential diagnoses in the case of asphyxial death.
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PMID:Sudden death due to asphyxia by esophageal polyp: two case reports and review of asphyxial deaths. 1612 Oct 86

Charcot-Marie-Tooth disease, the most common hereditary motor and sensory neuropathy, is a slowly progressive disorder characterized by diffuse muscle weakness and prominent distal atrophy that predominantly involves the intrinsic muscles of the feet and the peroneal muscles. It results in marked reduction in functional aerobic capacity during exercise and fatigue is commonly reported. To date, no pharmacologic treatment has been shown to be effective for treating fatigue in Charcot-Marie-Tooth. Modafinil is used to treat the symptoms of fatigue and excessive daytime sleepiness in narcolepsy. However, fatigue and subsequent excessive daytime sleepiness secondary to fatigue are common symptoms in many neurologic disorders. Prior reports on patients with myotonic muscular dystrophy, multiple sclerosis, Parkinson's disease, and amyotrophic lateral sclerosis, have shown beneficial effects of modafinil in treating fatigue. We report 4 patients with genetically confirmed Charcot-Marie-Tooth disease who had significant fatigue that was almost completely relieved by modafinil.
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PMID:Modafinil reduces fatigue in Charcot-Marie-Tooth disease type 1A: a case series. 1706 Mar 10


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