1/8. Familial scapuloperoneal myopathy and mitochondrial dna defect.The authors present 13 members of 4 generations in a family with scapuloperoneal myopathy. The disease showed autosomal dominant inheritance. In all 6 patients examined, the disease began in the third decade (18-31 years). Initially the shoulder girdle was involved, and the process slowly spread to the distal part of the lower extremities in several years or decades. The facial and pelvic muscles were only moderately involved; ocular muscle involvement was absent. Myopathy was proved by electromyography and muscle biopsy. In 1 case, electrophysiological evidence of peripheral neuropathy was found, and in 3 other patients central nervous system involvement (dementia, epilepsy) and optic atrophy complicated the syndrome. In the youngest patient, a mutation could be found in the 'hot-spot region' of the muscle mitochondrial dna by polymerase chain reaction.- - - - - - - - - - ranking = 1keywords = scapuloperoneal, atrophy (Clic here for more details about this article) |
2/8. Cardiomyopathy and atrioventricular block in Emery-Dreifuss muscular dystrophy--a case report.A 32-year-old woman is described as having the following characteristics of Emery-Dreifuss muscular dystrophy: humeroperoneal muscular atrophy and weakness, neck and elbow contractures with sinus bradycardia, first-degree atrioventricular block, and dilated cardiomyopathy. The biopsy specimen of skeletal muscle showed dystrophic character; a cardiac endomyocardial biopsy specimen showed adipose tissue infiltration and deposition of antihuman IgG. Emery-Dreifuss muscular dystrophy is an X-linked recessive myopathy. The patient had no familial background of the disease. This patient might have a sporadic inheritance pattern with severe cardiac involvement.- - - - - - - - - - ranking = 1.4814508567472E-5keywords = atrophy (Clic here for more details about this article) |
3/8. Emery-Dreiffus muscular dystrophy: MR imaging and spectroscopy in the brain and skeletal muscle.Emery-Dreifuss muscular dystrophy is a rare disorder characterized by childhood onset of contractures, humeroperoneal muscle atrophy, and cardiac conduction abnormalities. This report presents the cases of two brothers with this dystrophy in whom bilateral hypomyelination of the deep periatrial white matter was noted. In the hypomyelinated regions, a prominent peak centered at 1.5 parts per million was present on short-TE MR spectra likely representing prominence of proteolipids in the macromolecular region. Major peaks (N-acetyl-aspartate, creatine, choline, and myoinositol) were normal. With respect to muscle changes, atrophy of the medial head of the gastrocnemius muscle was noted at MR imaging, and phosphorus spectroscopy of this muscle revealed decreased phosphocreatine and inorganic phosphate peaks.- - - - - - - - - - ranking = 2.9629017134944E-5keywords = atrophy (Clic here for more details about this article) |
4/8. Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy.The coexistence of neurogenic and myogenic features in scapuloperoneal syndrome is rarely ascribed to a single gene. Defects in the nuclear envelope protein lamin A/C, encoded by the LMNA gene, have been shown to be associated with a variety of disorders affecting mainly the muscular and adipose tissues and, more recently, with autosomal recessive Charcot-Marie-tooth type 2 neuropathy. This report is about a patient presenting features of myopathy and neuropathy due to a dominant LMNA mutation, suggesting that the peripheral nerve might be affected in primary LMNA myopathy. Our observations further support the marked intrafamilial and interfamilial phenotypic heterogeneity associated with lamin A/C defects.- - - - - - - - - - ranking = 0.19999703709829keywords = scapuloperoneal (Clic here for more details about this article) |
5/8. Serial isokinetic evaluations used for a patient with scapuloperoneal muscular dystrophy. A case report.This article reports the reversal of an atypical rapid decline in muscle strength experienced by a patient with scapuloperoneal muscular dystrophy by modulating his excessive daily physical activity. This process was aided by our monitoring the strength of the quadriceps femoris and hamstring muscles using an isokinetic dynamometer. Serial torque values for muscle strength were compared as the total daily physical activity was decreased systematically. The torque values for thigh muscle strength increased as the subject's total work load was decreased. A complete management program for neuromuscular patients should include specified amounts of daily physical activity, rest, and therapeutic exercise.- - - - - - - - - - ranking = 0.99998518549143keywords = scapuloperoneal (Clic here for more details about this article) |
6/8. Familial lethal cardiomyopathy with mental retardation and scapuloperoneal muscular dystrophy.A family is described with a neuromuscular disorder characterised by possible X-linked recessive inheritance, a benign, slowly progressive muscular dystrophy with predominant humeroperoneal distribution and lack of contractures or pseudohypertrophy, central nervous system involvement, myopia and lethal cardiomyopathy. The possibility of cardiac transplant as life-saving therapy is suggested.- - - - - - - - - - ranking = 0.79998814839315keywords = scapuloperoneal (Clic here for more details about this article) |
7/8. Scapuloperoneal myopathy.Two members of a family are described with muscle weakness and wasting affecting distal muscles of the lower limbs and muscles of the shoulder girdles. An autosomal dominant mode of inheritance is suggested with involvement of a 39-year-old female and her 15-year-old daughter. The disease in the mother has taken a relatively benign course with slow progression while the daughter has a short history of mild weakness. In both, the symptoms in the legs developed first, with foot-drop and a gait disturbance, and shoulder girdle weakness developed at a later stage. The facial muscles were mildly affected in the mother only. Results of electromyography and muscle biopsy in both these cases support a diagnosis of muscular dystrophy. The scapuloperoneal pattern of muscle involvement occurs in a number of pathological and genetic entities. The differential diagnosis includes scapuloperoneal syndrome with distal sensory loss in the limbs (Davidenkow's syndrome). The nosology of this disorder is discussed in relation to the cases presented.- - - - - - - - - - ranking = 0.39999407419657keywords = scapuloperoneal (Clic here for more details about this article) |
8/8. Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophy.Scapuloperoneal syndromes are characterized by their distribution of muscle weakness and wasting. The reported pattern of inheritance has been variable. Both neurogenic and myopathic forms of autosomally dominantly inherited scapuloperoneal syndrome have been described. It has been suggested that these are variants of other neuromuscular diseases. We examined 44 members from a family with 14 members affected with a scapuloperoneal syndrome. Physiological and histological analysis implied that this condition is predominantly myopathic. Linkage analysis was done to confirm the genetic etiology of the disease in this family and to evaluate the possibility that it is a allelic variant of other neuromuscular diseases. Genetic analysis demonstrated linkage of the disease to chromosome 12, which makes it genetically distinct from other loci known to cause neuromuscular disease. Muscle fibers with hyaline desmin-containing cytoplasmic inclusions in combination with focal myopathic changes may be a disease-specific morphological marker of the disease.- - - - - - - - - - ranking = 1.1999822225897keywords = scapuloperoneal (Clic here for more details about this article) |