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At least 19 recordsLinked to original sources
PubMed2005

Bone mineral density in familial amyloid polyneuropathy and in other neuromuscular disorders.

Neuromuscular diseases are a known risk factor for immobilization-induced osteoporosis. The aim of the study was to analyse bone mineral density (BMD) in patients with familial amyloid polyneuropathy (FAP) type I (Val30 Met) and to compare them with a population of patients with other neuromuscular disorders. We studied 24, ambulatory, neuromuscular patients, all men and premenopausal women. We included 12 FAP patients (GI) and 12 patients with other disorders (GII). Clinical data included age, sex, height, weight, alcohol intake, smoking, calcium intake, physical activity and history of fractures. Serum and urinary calcium, osteocalcin, bone alkaline phosphatase, parathyroid hormone, thyroid stimulating hormone and urinary N-telopeptide cross-linked type 1 collagen were determined in all patients. Bone mineral density of lumbar spine, hip and wrist were determined by dual energy X-ray absorptiometry scan. No statistical differences were found in clinical or analytic data between the two groups, except for body mass index and calciuria, which were lower in GI. In GI, 54.5% were osteoporotic, against 23.1% in GII (P = 0.04). Bone mineral density was lower in GI when compared with GII, and tended to decrease with disease duration. Decreased BMI and the early autonomic involvement in GI probably explain the results. The prevention and early treatment of osteoporosis, in FAP patients should be considered a priority.

Absorptiometry, Photon↗
PubMed2002

Noninvasive ventilation for chest wall and neuromuscular disorders.

Neuromuscular and chest wall disorders are individually uncommon but together form an important group of conditions that can lead to chronic ventilatory failure. This is best recognised in scoliosis, kyphosis, following a thoracoplasty, in muscular dystrophies, such as Duchenne muscular dystrophy (DMD), and myotonic dystrophy, after poliomyelitis and with motor neurone disease (amyotrophic lateral sclerosis). If bulbar function is impaired, tracheostomy ventilation may be required, but in other situations, noninvasive ventilation is preferable. Positive pressure techniques using nasal and face masks are usually the first choice, but negative pressure ventilation is an alternative. There are no randomised-controlled trials regarding the indications for initiating noninvasive ventilation, but this is usually provided if there are symptoms due to nocturnal hypoventilation or right heart failure in the presence of a raised carbon dioxide tension in arterial blood (Pa,CO2) either at night or, more usually, in the daytime as well. There is no evidence that "prophylactic" ventilatory support is of benefit if this is provided before ventilatory failure has appeared. Careful selection of patients is required, especially in the presence of progressive neuromuscular disorders such as DMD and motor neurone disease. There are no randomised-controlled trials concerning the outcome of noninvasive ventilation in these conditions, but studies have shown an improved quality of life, physical activity and haemodynamics, normalisation of blood gases and slight improvement in other physiological measures, such as the vital capacity and maximal mouth pressures. Survival in chest wall disorders is approximately 90% at 1 yr and 80% at 5 yrs, and similar figures have been obtained in nonprogressive neuromuscular conditions. If, however, the underlying disorder is deteriorating, particularly if it involves the bulbar muscles, it may limit survival despite the provision of adequate noninvasive ventilatory support.

Humans↗
PubMed1998

Neuromuscular disorders.

Neuromuscular diseases form an heterogeneous group of illnesses. These diseases are rare and studies concerning their anaesthetic management are difficult. Patients with neuromuscular disease represent a challenge for the anaesthesiologist because of the frequent perioperative complications. Cardiac and respiratory functions are often involved, and the severity of the lesions are difficult to estimate. The possible interactions of different drugs necessitates a good knowledge of the drugs' actions and pathophysiological mechanisms.

Journal Article↗
PubMed2006

IPPB-assisted coughing in neuromuscular disorders.

In neuromuscular disorders, reduced peak cough flows (PCFs) are considered to increase the risk of respiratory complications such as pneumonia or chronic atelectasis. Different methods were described to improve PCF. However, these studies were primarily carried out in adults, and there is limited information regarding the use and efficacy of these methods in children with respiratory muscle weakness. The aim of this study was to investigate whether hyperinsufflation with an intermittent positive-pressure breathing (IPPB) device is effective in cough augmentation in pediatric patients. Spirometry (forced inspiratory vital capacity, FIVC; forced expiratory volume in 1 sec, FEV1), respiratory muscle pressures (peak inspiratory pressure, PIP; peak expiratory pressure, PEP), and PCF were measured in 29 schoolchildren with various neuromuscular disorders. IPPB-assisted hyperinsufflation was taught individually to increase lung volumes (maximum insufflation capacity, MIC) above FIVC. The impact of hyperinsufflation on peak cough flow was documented. In 28/29 patients, IPPB-assisted hyperinsufflation enhanced FIVC from 0.68 +/- 0.40 l to an MIC of 1.05 +/- 0.47 l (P < 0.001). Unassisted PCF was 119.0 +/- 57.7 l/min, and increased to 194.5 +/- 74.9 l/min (P < 0.001) in 27/29 patients. This effect was similar in young patients (ages 6-10 years) and older patients (aged >10 years). Augmentation of lung volumes from FIVC to MIC correlated with an increase of PCF (R = 0.42, P < 0.05). IPPB-assisted hyperinsufflation improves PCF in pediatric neuromuscular disorders. The results suggest that this technique can be used to improve clearance of airway secretions and therefore reduce respiratory morbidity in children with NMD.

Adolescent↗
PubMed2005

Diagnostic immunohistochemistry in neuromuscular disorders.

Most neuromuscular disorders display only non-specific myopathological features in routine histological preparations. However, a number of proteins, including sarcolemmal, sarcomeric, and nuclear proteins as well as enzymes with defects responsible for neuromuscular disorders, have been identified during the past two decades, allowing a more specific and firm diagnosis of muscle diseases. Identification of protein defects relies predominantly on immunohistochemical preparations and on Western blot analysis. While immunohistochemistry is very useful in identifying abnormal expression of primary protein abnormalities in recessive conditions, it is less helpful in detecting primary defects in dominantly inherited disorders. Abnormal immunohistochemical expression patterns can be confirmed by Western blot analysis which may also be informative in dominant disorders, although its role has yet to be established. Besides identification of specific protein defects, immunohistochemistry is also helpful in the differentiation of inflammatory myopathies by subtyping cellular infiltrates and demonstrating up-regulation of subtle immunological parameters such as cell adhesion molecules. The role of immunohistochemistry in denervating disorders, however, remains controversial in the absence of a reliable marker of muscle fibre denervation. Nevertheless, as well as the diagnostic value of immunocytochemical analysis it may also widen understanding of muscle fibre pathology as well as help in the development of therapeutic strategies.

Animals↗
PubMed2002

[Anesthesia in neuromuscular disorders. Part 2: specific disorders].

The neuromuscular disorders described are divided into four groups: motoneuron diseases, peripheral neuropathies, disturbances of neuromuscular transmission and myopathies. In motoneuron diseases problems mainly result from respiratory insufficiency and the predisposition for aspiration caused by progressive muscular weakness. Depolarising muscle relaxants may elicit myotonic reaction and massive hyperkalemia. In contrast to non-depolarising muscle relaxants there may be an extreme hypersensitivity. In peripheral neuropathies the cardiac function is often limited whereby dysautonomia may enhance cardiovascular instability. The negative inotropic effect of anaesthetic agents must be observed with care and patients with higher degree of AV blocks may need a cardiac pacemaker during general anaesthesia. The Charcot-Marie-Tooth-Syndrome is characterized with a high sensitivity to thiopental. Disturbances of neuromuscular transmission frequently cause respiratory problems The fluctuating weakness of bulbar and respiratory muscles may impair swallowing and can lead to recurrent aspirations. Due to the reduced number of acetylcholine receptors the sensitivity to non-depolarizing muscle relaxants is elevated and the response to succinylcholine is reduced. Drugs reducing neuromuscular transmission such as antibiotics and beta-blockers may enhance these symptoms and should be avoided. In progressive muscular dystrophies the anaesthetic risk is mainly dependent on cardiac and respiratory impairment. Administration of succinylcholine leads to the risk of hyperkalmic cardiac arrest. Patients with metabolic myopathies are also at risk due to the involvement of cardiac muscle but respiratory problems are less frequent. Muscle metabolism should be supported by administration of substrates depending on the underlying disorder. In membrane disorders muscle rigidity (myotonic reactions) or weakness may lead to respiratory insufficiency. In addition to the depolarising muscle relaxants also anticholinesterase drugs, hypothermia and dyskalaemia can evoke myotonic reactions.

Anesthesia↗
PubMed2003

[Glycosaminoglycans and their fractions in patients with hereditary neuromuscular disorders].

Hereditary neuromuscular disorders (HNMD), with population incidence 1:3000, are characterized in most cases by progressive course and treatment resistance and patient's disabling. To study the involvement of the tissue-connecting structures in the pathogenesis, glycosaminoglycans and their fractions were determined in blood serum. The test group involved 40 patients with hereditary myotonia, myodystrophy, neuropathy and spinal muscular atrophy and control one consisted of 27 healthy age- and sex-matched subjects. The study was conducted using anion exchange chromatography on DEAE-cellulose. Comparing to controls, significant increase of total glycosaminoglycans and decrease of gilauronic acid fraction (p < 0.05) were found in HNMD patients, with no differences being detected between nosologic entities. Reverse correlation (r = -0.46) was revealed between patient's age and glycosaminoglycans concentration in blood serum. We concluded on intracellular and intercellular matrix heteropolyglycans metabolism dysregulation in the patients and suggested a part of HNMD pathogenesis scheme.

Adult↗
PubMed2001

[Echocardiography in storage and neuromuscular disorders].

Storage disorders and neuromuscular disorders may lead to cardiac involvement which can be visualized by echocardiography. In storage disorders like hypothyroidism, haemochromatosis, amyloidosis, mucopolysaccharidosis and Fabry's disease, myocardial thickening and systolic dysfunction can be found. In amyloidosis, atrial enlargement and abnormal texture of the myocardium are additional findings. In advanced haemochromatosis all cardiac chambers may be dilated. In hypothyroidism and amyloidosis, a pericardial effusion can be present. In haemochromatosis and amyloidosis, a restrictive filling pattern may be detected using Doppler-sonography. Mucopolysaccharidosis and Gaucher's disease may lead to aortic and mitral stenosis. In neuromuscular disorders like glycogenosis, mitochondriopathy and myotonic dystrophy, myocardial thickening and systolic dysfunction are found, in spinal muscular atrophy myocardial thickening and in muscular dystrophy Becker/Duchenne systolic dysfunction. An abnormal myocardial texture may be present in glycogenosis, isolated left ventricular abnormal trabeculation (ILVAT) in mitochondriopathy, myotonic dystrophy and muscular dystrophy Becker/Duchenne. Using Doppler-sonography an impaired relaxation of the left ventricle may be detected in mitochondriopathy, myotonic dystrophy and spinal muscular atrophy. Most of these echocardiographic findings are unspecific and may be overlooked, especially if the storage or neuromuscular disorder is yet unknown. Establishing a correct diagnosis is important, since healing or functional improvement is possible in many of these disorders.

Amyloidosis↗
PubMed1999

Neuromuscular disorders of childhood.

Neuromuscular disorders are common causes of weakness and hypotonia in the infantile period and in childhood. Accurate diagnosis of specific neuromuscular disorders depends first on identification of which aspect of the peripheral neuromuscular system is affected--the motor neuron in the spinal cord, the nerve root or peripheral nerve, the neuromuscular junction, or the muscle--and then on the determination of the etiology and specific clinical entity. This review provides an overview of the major neuromuscular disorders of childhood with attention to recent advances and emerging areas of research.

Charcot-Marie-Tooth Disease↗
PubMed2005

Neuromuscular disorders and sleep.

Neuromuscular disorders are caused by the primary involvement of the motor unit. In these patients, sleep-disordered breathing (SDB) due to respiratory muscle weakness is often encountered during sleep. Because there is a tendency to overlook this disorder, all patients with neuromuscular disorders should be questioned about SDB. Overnight polysomnography is the best investigation for SDB and nocturnal desaturations. In the management of these patients, noninvasive intermittent positive pressure ventilation results in improvement of SDB and breathing.

Humans↗
PubMed2006

Plasma exchange in neuroimmunological disorders: part 2. Treatment of neuromuscular disorders.

Plasma exchange is a well-established therapeutic procedure commonly used in many neurological disorders of autoimmune etiology. In this second part of our review, we assess the role of plasma exchange in the treatment of neuromuscular disorders. In Guillain-Barré syndrome and other immune-mediated neuropathic disorders, randomized controlled trials have demonstrated the therapeutic efficacy of plasma exchange. Myasthenia gravis and Lambert-Eaton syndrome represent neuromuscular disorders where plasmapheresis might be of potential efficacy.

Autoimmune Diseases of the Nervous System↗
PubMed2003

Diagnosis and treatment of neuromuscular disorders of the stomach.

Gastric neuromuscular disorders encompass a spectrum of dysfunction in nerve and smooth muscle that includes gastric visceral hypersensitivity, gastric dysrhythmias, fundic dysfunction, antral hypomotility, and gastroparesis. Patients with each disorder may present with such vague dyspepsia symptoms as early satiety, upper abdominal discomfort, bloating, or nausea with or without vomiting. A careful history and physical examination may suggest a gastric neuromuscular disorder, but symptoms are nonspecific. Gastroparesis is the most severe form of neuromuscular dysfunction. Such reversible causes of gastroparesis as mechanical obstruction of the stomach and chronic mesenteric ischemia must be excluded. Gastroparesis, gastric dysrhythmias, and hypersensitivity may follow viral infection or be due to degenerative processes that affect the gastric enteric neurons, smooth muscle, or interstitial cells of Cajal. Commonly, the cause of these gastric neuromuscular disorders is unknown. An approach to the diagnosis and treatment of gastric neuromuscular disorders is reviewed, including dietary counseling, drugs, and medical devices.

Humans↗
PubMed1996

Neuromuscular disorders in critical illness.

Neuromuscular disorders are important causes of prolonged morbidity in intensive care unit. Specific disorders facing the neurologist in the intensive care unit may have been present before admission to the unit or develop as a secondary complication of their stay. A bedside neurological examination, followed by electrophysiological testing, including testing of the respiratory system, is crucial in providing the neuromuscular diagnosis. Among the neuromuscular disorders that confront the clinician in the unit are motor neuron disease, acute polyneuropathies including acute inflammatory demyelinating polyneuropathy (Guillain-Barré syndrome) and critical illness polyneuropathy, neuromuscular transmission disorders including myasthenia gravis, and specific myopathies. This chapter reviews the differential diagnosis and the unique features of neuromuscular conditions that may complicate critical illness and admission to the intensive care unit.

Critical Care↗
PubMed2000

Nutrition-related problems of pediatric patients with neuromuscular disorders.

Children with neuromuscular disorders have special health needs that place them at risk of nutritional problems. These needs may have detrimental effects on their development, immune and respiratory system. Identified nutrition-related problems are malnutrition, obesity, food intolerance, food allergies, drug-nutrient interactions, constipation and reflux. In order to improve the nutritional status of these patients, a nutritional assessment is recommended which should include anthropometric measurements and laboratory tests.

Cerebral Palsy↗
PubMed2003

A study of histopathological pattern of neuromuscular disorders with clinico-pathologic correlation.

Neuromuscular disorders are frequently seen in our clinical practice, though no certain data are available in this regard. This prospective, observational study which was done as a partial fulfillment of M.Phil (Pathology) degree in BSMMU. The study was undertaken at the Department of Pathology of Bangabandhu Shiekh Mujib Medical University from August 1999 to December 2000 to study the histomorphological pattern of neuromuscular disorders in a selected group of patients attending the neuromedicine, paediatrics and medicine departments of BSMMU. Another purpose of this study was to evaluate the diagnostic utility of muscle biopsy and clinico-pathologic correlation in the diagnosis of neuromuscular disorders. In this study, 55 cases of clinically diagnosed neuromuscular disorders of different kinds were included. Detail clinical history was obtained in all the cases. Clinical diagnosis were made on the basis of history, physical examination, reports of routine and special laboratory tests whenever available. Muscle biopsy was performed in all the cases and histological changes could be identified in 42 cases. In the remaining thirteen undiagnosed cases; eight cases revealed 'essentially normal muscle tissue' and five cases were inadequate for histological evaluation. So, the later two categories were not included for further analysis. Among the histologically diagnosed 42 cases of neuromuscular disorders, basically two different classes of diseases were identified; 1) Dystrophic type of muscular diseases 64.28% and 2) Non dystrophic (acquired) type of neuromuscular diseases such as Inflammatory myopathy 21.82% and Neurogenic muscular atrophy 7.14%. Within the dystrophic group the maximum number of diseases were diagnosed as Duchenne muscular dystrophy 21.49%, Primary myopathy-unclassified 19.04%, Baker muscular dystrophy 4.76% and Limb girdle muscular dystrophy 4.76% etc. Properly executed muscle biopsy is usually the most useful and effective technique for diagnosis of neuromuscular diseases in cases where immunohistochemical, genetic and electron microscopic examination is not possible.

Adult↗
PubMed2005

Can clinical signs identify newborns with neuromuscular disorders?

OBJECTIVE: To evaluate retrospectively the prevalence of neuromuscular disorders in 83 newborns referred to a tertiary care center because of hypotonia and weakness and/or contractures, with a possible diagnosis of neuromuscular disorder. We also aimed to establish whether clinical signs could help to identify infants with neuromuscular disorders. STUDY DESIGN: Sixty-six of the 83 infants who fulfilled the inclusion criteria (79.5%) had an identifiable disorder, which was a neuromuscular disorder in 39 (46.9%). RESULTS: Absent or extremely reduced antigravity movements were mainly found in infants with neuromuscular disorders (sensitivity and specificity 97.4% and 75%), whereas partial range antigravity movements were more frequent in infants with other diagnosis. Contractures were mainly found in infants with peripheral nerve or muscle involvement but also were relatively frequent in infants with genetic or metabolic syndromes (sensitivity 69.2%, specificity 61.3%). Reduced fetal movements and abnormal liquor were frequent but not present consistently in infants with neuromuscular disorders (sensitivity 46.1% and 38.4%) and were found rarely in infants with other disorders (specificity 88.6% and 75.0%). CONCLUSIONS: Severe muscle weakness and contractures are the most reliable indicators of a neuromuscular disorder and should be carefully assessed in an infant with neonatal hypotonia.

Algorithms↗
PubMed2003

Daytime predictors of sleep disordered breathing in children and adolescents with neuromuscular disorders.

Sleep disordered breathing with or without nocturnal hypercapnic hypoventilation is a common complication of respiratory muscle weakness in childhood neuromuscular disorders. Nocturnal hypercapnic hypoventilation as a sign of respiratory muscle fatigue, portends a particularly poor prognosis. We aimed at identifying daytime predictors of sleep disordered breathing at its onset and sleep disordered breathing with nocturnal hypercapnic hypoventilation. Forty-nine children and adolescents (11.3+/-4.4 years) with progressive neuromuscular disorders were studied with inspiratory vital capacity, peak inspiratory pressure, arterial blood gases, polysomnography, and a ten-item symptoms questionnaire. Daytime respiratory function was prospectively compared with polysomnographic variables. Sleep disordered breathing was found in 35/49 patients (71%). Twenty-four (49%) had sleep disordered breathing with nocturnal hypercapnic hypoventilation. Inspiratory vital capacity and peak inspiratory pressure, but not symptom score, correlated with sleep disordered breathing and severity of nocturnal hypercapnic hypoventilation. Sleep disordered breathing-onset was predicted by inspiratory vital capacity<60% (sens. 97%, spec. 87%). Sleep disordered breathing with nocturnal hypercapnic hypoventilation was predicted by inspiratory vital capacity<40% (sens. 96%, spec. 88%) and PaCO(2)>40 mmHg (sens. 92%, spec. 72%,). Sleep disordered breathing can reliably be predicted from simple daytime respiratory function tests, which, if applied systematically, will improve recognition of nocturnal respiratory failure.

Adolescent↗