1/3. 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 = 1keywords = facioscapulohumeral muscular dystrophy, facioscapulohumeral, muscular dystrophy, dystrophy (Clic here for more details about this article) |
2/3. 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 = 0.0019965108970212keywords = muscular dystrophy, dystrophy (Clic here for more details about this article) |
3/3. 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 = 0.0099825544851058keywords = muscular dystrophy, dystrophy (Clic here for more details about this article) |