Showing papers in "Neuromuscular Disorders in 1992"

TL;DR: The full history and postmortem findings in one of the first identified cases of mitochondrial encephalomyopathy with stroke-like episodes (MELAS) are described and analysis of mitochondrial DNA (mtDNA) may point to the correct diagnosis.

TL;DR: These studies do not support the idea that utrophin occupies membrane attachment sites only when dystrophin is absent or reduced, but would be consistent with utphin expression as part of an activated foetal programme during regeneration.

TL;DR: Specific cognitive disabilities in certain DMD children, not seen in SMA children, suggest a relationship with a DMD genetic disorder.

TL;DR: The polysaccharide accumulation in these horses may represent a hereto yet undefined metabolic disorder of skeletal muscle.

TL;DR: The dystrophin lattice is organized at the muscle plasma membrane in an array of thick bands interconnected by a finer network that matched the sites of attachment of the sarcomeres to the plasma membrane.

TL;DR: Results suggest that oxyradical damage may occur as a secondary consequence of muscle degenerating disease, leading to a breakdown in the glycogenolytic energy producing system.

TL;DR: The occurrence of positive fibers in small clusters supports the hypothesis of their clonal origin, suggesting that they may result from genetic reversion.

TL;DR: Two patients with asthmatics who developed respiratory failure with hypercapnia and acidosis requiring endotracheal intubation, administration of vecuronium and prolonged ventilatory support received prolonged treatment with high doses of intravenous methylprednisolone.

TL;DR: The same deletion in different individuals was found to occur with or without mental impairment, and many different deletions were associated with mental retardation.

TL;DR: It is indicated that neuromuscular disorders, particularly DMD and SMA I and II, have a much higher prevalence in the first two decades of life than is generally thought.

TL;DR: There appeared to be continued evolution of pathology following surgery, as assessed by sequential muscle ultrasound and muscle biopsy, and it is concluded that this type of surgery cannot be recommended as a routine treatment.

TL;DR: Failure to respond to medical treatment warrants assessment for cardiac transplantation in Becker muscular dystrophy.

TL;DR: Clinical criteria for the diagnosis of motor neuron disease, agreed at the inaugural meeting of the European Familial Amyotrophic Lateral Sclerosis Collaborative Group, are described and allow the inclusion of certain recognized clinical sub-types of familial amyotrophic lateral sclerosis.

TL;DR: Scattered case reports and investigations of individuals with known myopathies and other muscle related problems, suggest a possible association of MH with a variety of neuromuscular diseases and stress syndromes.

TL;DR: The data suggest that deletions in the brain promoter region are rare in DMD and are compatible with normal intelligence.

TL;DR: Intramuscular microstimulation of motor axons was used to study twitch responses of 209 motor units (MUs) in the first dorsal interosseus muscle (FDI) of 20 normal subjects and proved to be reliable and appropriate for use in patients.

TL;DR: It is indicated that intrasarcoplasmic desmin storage is associated with an abnormal accumulation of dystrophin and this finding seems to be specific and suggests a possible structural and functional association between these two proteins in striated muscle.

TL;DR: Clinical situations that illustrate the difference between manual muscle testing (MMT) and IMT in neuromuscular patients and the detection of even the tiniest variations in strength are reported.

TL;DR: It is suggested that a baby male born to healthy non-consanguineous parents presenting at birth with hypotonia and seizures has a selective peroxisomal beta-oxidation defect, a recently identified heterogeneous group of early-onset peroxISomal disorders distinct from the Zellweger syndrome and other generalized perox isomal disorders.

TL;DR: A clinical, genetic and histopathological study of 19 patients belonging to a large inbred Palestinian family living in Um-El-Fahem, a town located in Israel, which is solely inhabited by Arabs, finds that their custom of marrying only among relatives has kept the genetic homogeneity of the families intact.

TL;DR: Biochemical investigations of skeletal muscle revealed a disturbed mitochondrial energy metabolism, while many ultrastructural abnormal features were observed in the muscle tissue, and molecular genetic studies showed a de novo deletion in the mitochondrial DNA.

TL;DR: It may prove to be of diagnostic importance to combine the analysis of enzyme activity and immunoreactivity in patients suspected of having a CPT deficiency and to further investigate the condition of partial C PT deficiency.

TL;DR: Free, phosphorylated and total creatine concentrations as well as Mi-CK activity were determined in muscle samples of six patients with chronic progressive external ophthalmoplegia and no relationship was found between the concentration of total, free or phosphorylation creatine and the occurrence of mitochondrial crystals.

TL;DR: Researchers studied mtDNA heteroplasmy in two families with MERRF syndrome using a denaturing gradient gel electrophoresis technique that avoids the errors in the evaluation of wild/mutant mtDNA ratios caused by restriction enzyme cutting in the situation of amplification of a heteroplasmic DNA.

TL;DR: Antibodies to different domains of dystrophin bound to the periphery and sarcoplasm of regenerating fibres in dystrophic dogs, particularly during the first 7 days of regeneration, but the fluorescence was less intense than in normal dogs.