Schwartz-Jampel syndrome

Also known as outlined cartilage nutrition obstacles muscular rigidity. Cause pathogenesis is still unclear. Urine of patients chondroitin sulfate abnormal increase, it is felt that the chondroitin sulfate may belong to a urine -4 mucopolysaccharide disorder. Clinical features of blepharophimosis narrow, specific outlook, short trunk, bone and joint abnormalities and muscle stiffness. Following a period of morbidity. Myotonia are tapping muscular rigidity and seize two muscular stiffness, lasted longer, EMG was sustained activity, Blepharospasm blepharophimosis so narrow. Visibility small trunk, the corresponding short and long bones, the degree of ossification younger, general osteoporosis, Development of the skull and the skull base into abnormal disease, thoracic changes, scoliosis, flat vertebrae, hip and shoulder valgus, elbow, contracture of the knee and other joints. -4 Chondroitin sulfate in urine increased. Muscle biopsy diffuse muscle atrophy. Differential diagnosis (1) both Morquio Syndrome in the skeletal system similar to the change. Morquio syndrome is a hereditary metabolic disorder mucopolysaccharide diseases, the normal intellectual development, Skeleton extensively characterized mainly affecting the spine and joint cartilage, neck, chest, spine deformities mainly, the skull and facial bones more will not be affected. Patients with 3 ~ 4 years after the apparent physical and skeletal abnormalities and the normal performance of the head, ears, dwarf size, relatively long limbs, hip dislocation or inverted, kyphosis, breast side. Vertebrae X-ray examination showed vertebral generally flat, irregular margin from top to bottom. Urine emit a great deal of mucopolysaccharidosis. (2) myotonic dystrophy (Myotonic muscular dystrophy) a group of multi-system involvement autosomal dominant inherited disease. Congenital infants after birth can develop the disease, is characterized by involvement of skeletal muscle atrophy, weakness, rigidity, Early weakness appeared facial expression is an important performance, "an ax-like face" and "gooseneck", muscle rigidity affecting smooth muscle, endocrine and nervous systems. X-ray skull see thickening of the skull, Sella smaller.