1/7. Reducing body myopathy with cytoplasmic bodies and rigid spine syndrome: a mixed congenital myopathy.At the age of five years a male child started to develop a progressive rigid spine, torsion scoliosis, and flexion contractures of his elbows, knees, hips, and ankles owing to severe proximal and distal muscle weakness. He had three muscle biopsies from three different muscles at ages 7, 11, and 14 years, respectively. Myopathologically, these muscle tissues contained numerous inclusions which, at the ultrastructural level, turned out to be reducing bodies and cytoplasmic bodies, often in close spatial proximity. Similar histological inclusions, although not further identified by histochemistry and electron microscopy, were seen in his maternal grandmother's biopsied muscle tissue who had developed weakness of the legs and hands after the age of 50 years. The patient's parents were healthy, but the mother's quadriceps muscle showed an increased spectrum of muscle fibre diameters. Our patient, thus, had a neuromuscular disorder, perhaps familial, presenting as a mixed congenital myopathy, i.e., reducing body myopathy with cytoplasmic bodies, of which the morphological lesions could be consistently documented over several years in his different limb muscles. While other mixed congenital myopathies had shown cores and rods, both related to sarcomeres and thus possibly morphogenetically related, cytoplasmic bodies thought to be related to Z-bands and reducing bodies dissimilar to any muscle fibre constituent do not share any common denominator. Therefore, we suggest that this neuromuscular disorder may be a unique mixed congenital myopathy, either sporadic or genetic. In the latter case, the transmission pattern suggested X-linked recessive inheritance, but an autosomal-dominant transmission with variable penetrance could not be ruled out.- - - - - - - - - - ranking = 1keywords = myopathy (Clic here for more details about this article) |
2/7. A severe case of facioscapulohumeral muscular dystrophy (FSHD) with some uncommon clinical features and a short 4q35 fragment.Severe and early facioscapulohumeral muscular dystrophy (FSHD) is relatively rare. In this report, we describe a case of severe, infantile onset FSHD in a patient with asymmetric progressive ptosis and early hyperlordosis. dna analysis revealed a very short 4q35 allele of 8.6 kb and a somatic mosaicism for the 4q35 deletion detected in a subclinically affected parent of the patient. This case demonstrates difficulties in the management of abnormal posture, especially early hyperlordosis in children with this disorder.- - - - - - - - - - ranking = 17.119401761308keywords = muscular dystrophy, dystrophy (Clic here for more details about this article) |
3/7. The bent spine syndrome: myopathy biomechanics = symptoms.BACKGROUND CONTEXT: The bent spine syndrome, which mimics spinal stenosis, is thought to be a focal paraspinal myopathy, but because paraspinal fatigue with ambulation is not a feature of more severe myopathies, the cause of symptoms is not clear. PURPOSE: To evaluate electromyographic and biomechanical aspects of the bent spine syndrome. STUDY DESIGN/SETTING: University spine clinic. methods: A patient with severe disability from the bent spine syndrome was compared with a fortuitously discovered asymptomatic research subject with the syndrome, in terms of physical examination, magnetic resonance imaging, and electrodiagnostic testing. RESULTS: Both subjects had fatty paraspinal replacement on magnetic resonance imaging and electromyography. More detailed electromyography of the patient showed abnormalities medially and caudally, but changes including apparent myopathic motor units up to the high thoracic region. The research subject had no hip flexion contracture, whereas the patient had severe contracture. Correction of contracture increased ambulation from 20 to 300 meters. CONCLUSIONS: Bent spine syndrome is likely a paraspinal myopathy, but symptoms do not occur unless there is also a hip flexion contracture.- - - - - - - - - - ranking = 0.54545454545455keywords = myopathy (Clic here for more details about this article) |
4/7. The rigid spine syndrome in two sisters.Two half-sisters aged 14 and 18 years are described with a rigid spine syndrome as the cardinal clinical feature of an autosomal dominant neuromuscular disorder. Ten years previously, a diagnosis of multicore disease had been made from the clinical signs and muscle biopsy findings. Long term follow-up revealed a non-specific muscular dystrophy with axial predominance and a rigid spine in the younger girl; the older sister presented at the age of 18 with a rigid spine as the only myopathic sign. Computed tomography of the muscles showed severe involvement of the paraspinal musculature, in contrast with either less or no involvement of the other muscles.- - - - - - - - - - ranking = 3.4238803522615keywords = muscular dystrophy, dystrophy (Clic here for more details about this article) |
5/7. spinal stenosis caused by a Harrington hook in neuromuscular disease. A case report.In a 22-year-old woman with an unspecific congenital myopathy spinal stenosis developed 11 years after a T4-L5 spinal fusion. A slowly progressive lumbosacral lordosis developed, and the Harrington hook at L5 tilted into the canal, eroded the dura, and pressed on the nerve roots. Removal of the hook and fusion of L5-S1 relieved the symptoms.- - - - - - - - - - ranking = 0.090909090909091keywords = myopathy (Clic here for more details about this article) |
6/7. Tracheal occlusion in the prone position in an intubated patient with Duchenne muscular dystrophy.A 15-year-old boy with Duchenne muscular dystrophy developed complete airway obstruction under general anaesthesia when positioned prone for spinal surgery. Tracheobronchial compression against vertebral bodies facilitated by a shortened sternovertebral distance due to thoracic lordoscoliosis is suggested as the cause.- - - - - - - - - - ranking = 17.119401761308keywords = muscular dystrophy, dystrophy (Clic here for more details about this article) |
7/7. King syndrome: further clinical variability and review of the literature.The King syndrome is characterized by a Noonan-like phenotype, the presence of a nonspecific myopathy and a predisposition to malignant hyperthermia. In some families, mild physical manifestations of the phenotype and/or elevated serum creatine phosphokinase (CPK) in relatives suggest the presence of an autosomal dominant myopathy with variable expressivity. We summarize the cases of 14 previously reported patients and describe a new patient, a 7-year-old girl, with the King syndrome and the unique findings of diaphragmatic eventration, tethered spinal cord, and severe paucity of type 2 skeletal muscle fibers. It has been proposed that the King syndrome represents a common phenotype that may result from several different slowly progressive congenital myopathies. This hypothesis, and the phenotypic overlap between the King and Noonan syndromes are discussed in light of the findings in this new patient.- - - - - - - - - - ranking = 0.18181818181818keywords = myopathy (Clic here for more details about this article) |