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

Clinical investigations of infants hospitalized with botulism demonstrate a remarkable uniformity of complaints and physical findings. Constipation precedes a course of progressive weakness and cranial nerve dysfunction. Examination reveals hypotonia, hyporeflexia, and a variable pattern of involvement of the motor cranial nerves. Initial laboratory investigations should include electrodiagnostic tests, because findings of an incremental response to rapid, repetitive nerve stimulation and of brief, small-amplitude motor units on electromyography are virtually pathognomonic of botulism in the infant. Differential diagnosis includes disorders that may produce generalized depression of the central nervous system, such as septicemia, meningitis, metabolic disturbances, and intoxications. Specific involvement of the neuromuscular system includes acute polyneuropathies, diseases of the anterior horn cell, congenital myopathies or muscular dystrophy, and neonatal myasthenia gravis. Recent studies have expanded the clinical spectrum of infant botulism to include some cases of sudden infant death syndrome and otherwise nonspecific constipation.
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PMID:Differential diagnosis of infant botulism. 23 67

A time lag factor of about five days has been identified in an increased incidence of SIDS in relation to a cold day. Sudden exposure to chilling appeared to trigger skeletal muscle weakness and renal failure about five days later in a man found to have only 25% of normal carnitine palmitoyl transferase (CPT) activity in biopsied skeletal muscle. White Muscle Disease is a muscular dystrophy in young ruminants which appears about five days after turnout to pasture in the weaned ruminant raised on a diet deficient in vitamin E and selenium (VESD). Pasture has high levels of linoleic and linolenic acid (high PUFA diet) which are modified by developing rumen bacteria. Corbucci investigated the effects of circulatory shock (cardiogenic) on skeletal muscle mitochondrial activity in humans. Cytochrome oxidase activity fell markedly and, in particular, the capacity to oxidase palmitoyl carnitine was greatly reduced. He considered a consequence of this disorder was sequestration of carnitine as acyl carnitine which could not be recycled. Unusual acyl carnitines have been identified in six out of 13 SIDS victims in a USA group. In Finland, researchers identified a rise in SIDS incidence (mostly found in the prone position) after great and rapid temperature changes. Foster found a relationship between 1984 SIDS incidence and the incidence of goitre in World War I troops.
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PMID:Sudden infant death syndrome (SIDS): a time lag factor. 204 96

Units for the investigation of susceptibility to malignant hyperthermia (MH) were set up in Denmark in 1977 and in Sweden in 1981. Two hundred and ten patients from 76 families have been investigated. The diagnosis of MH susceptibility (MHS) was made by in vitro exposure of muscle from vastus medialis to halothane and to caffeine. MHS criteria for the patients in this paper were established from examination of 31 control biopsies, obtained from the same muscle and with the same anaesthesia as the MH patients. The criteria have since been changed to those presented elsewhere in this issue. In our laboratories the halothane test (exposure to 0.5-2% halothane) was the more sensitive: 88% of MHS patients reacted to it. The caffeine test was positive in 68% of MHS patients, 0.5-2.0 mmol litre-1 solutions being the most discriminating. Forty-two percent of MHS patients reacted to only one test. Fulminant MH was the most common reason for investigation; all these families contained MHS members. Masseter spasm occurred as sole sign in 21 families, of which 11 were MHS. Only 10% of MHS patients had other signs or symptoms of neuromuscular disease such as muscle cramps or muscular dystrophy. Three families had experienced sudden infant death syndrome (SIDS), and two teenage brothers in a MHS family died suddenly, but death was unrelated to anaesthesia.
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PMID:Investigation of malignant hyperthermia in Denmark and Sweden. 648 40

We have observed sudden clinical death due to Fukuyama-type congenital muscular dystrophy (FCMD). In FCMD, brain abnormalities, such as polymicrogyria, leptomeningeal neuroglial heterotopia and abnormal course of the corticospinal tracts, are well known. We investigated the brainstem of 10 FCMD and 7 control cases. Among the control cases, 5 with Duchenne type muscular dystrophy died of heart failure and 2 died accidental death. In the brainstem, the catecholaminergic neurons characterized by reaction with antiserum to tyrosin hydroxylase showed notable reduction in the reticular formation, vagal nuclei, and nucleus tractus solitarius. Delays or aberrations of neural control may contribute to the pathogenesis of sudden infant death syndrome, and medullary gliosis occurs in the reticular formation of sudden infant death syndrome. The pathogenesis of neurons in the brainstem in FCMD may be similar to that in sudden infant death syndrome. These findings suggest neuronal dysfunction in the brainstem and may be related to respiratory, circulatory, or sleep-wake regulation disorders.
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PMID:Morphological study of the brainstem in Fukuyama type congenital muscular dystrophy. 897 33

In mammals, air is moved in and out of the lungs by a sheet of muscle called the diaphragm. When this muscle contracts air gets drawn into the lungs and as the muscle relaxes this pushes air back out. Movement of the diaphragm is controlled by a group of nerve cells called motor neurons which are part of the phrenic motor column (or PMC for short) that sits within the spinal cord. The neurons within this column work together with nerve cells in the brain to coordinate the speed and duration of each breath. For the lungs to develop normally, the neurons that control how the diaphragm contracts need to start working before birth. During development, motor neurons in the PMC cluster together and connect with other nerve cells involved in breathing. But, despite their essential role, it is not yet clear how neurons in the PMC develop and join up with other nerve cells. Now, Vagnozzi et al. show that a set of genes which make the transcription factor Hox5 control the position and organization of motor neurons in the PMC. Transcription factors work as genetic switches, turning sets of genes on and off. Vagnozzi et al. showed that removing the Hox5 transcription factors from motor neurons in the PMC changed their activity and disordered their connections with other breathing-related nerve cells. Hox5 transcription factors regulate the production of proteins called cadherins which join together neighboring cells. Therefore, motor neurons lacking Hox5 were unable to make enough cadherins to securely stick together and connect with other nerve cells. Further experiments showed that removing the genes that code for Hox5 caused mice to have breathing difficulties in the first two weeks after birth. Although half of these mutant mice were eventually able to breathe normally, the other half died within a week. These breathing defects are reminiscent of the symptoms observed in sudden infant death syndrome (also known as SIDS). Abnormalities in breathing occur in many other diseases, including sleep apnea, muscular dystrophy and amyotrophic lateral sclerosis (ALS). A better understanding of how the connections between nerve cells involved in breathing are formed, and the role of Hox5 and cadherins, could lead to improved treatment options for these diseases.
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PMID:Phrenic-specific transcriptional programs shape respiratory motor output. 3194 80