What Is Morquio Syndrome?

Schwartz-Jampel syndrome, also known as cartilage dystrophic muscular rigidity.

Schwartz-Jampel syndrome

Schwartz-Jampel Syndrome [Overview]

Schwartz-Jampel syndrome, also known as cartilage dystrophic muscular rigidity.

Schwartz-Jampel syndrome [Causes and mechanisms]

The cause is unknown. The patient's urine has an abnormal increase in chondroitin sulfate, so it is considered to be a mucopolysaccharide abnormal disease of chondroitin sulfate-4 urine.

Schwartz-Jampel syndrome [Clinical manifestations]

It is characterized by blepharoplasty, specific features, short trunk, abnormal bones and joints, and muscle rigidity.

Onset within 1 month after birth. There are two types of myotonia: thumping myotonia and clenching myotonia. They have a long duration, and the electromyogram shows continuous electrical activity. The palpebral muscle spasm reduces the blepharoplasia. It can be seen that the trunk is small, the corresponding long bones are short, the degree of ossification is younger, the whole body is osteoporotic, the skull is not developed, and the skull base is trapped. Abnormalities of the thorax, scoliosis, flat vertebral body, hip valgus, shoulder, elbow, knee Wait for joint contractures. Increased urine chondroitin sulfate-4. Muscle biopsy diffuse muscle atrophy.

Schwartz-Jampel syndrome [Differential diagnosis]

(A) Morquio syndrome has similar changes in the skeletal system. Morquio's syndrome is a hereditary mucopolysaccharide metabolism disorder with normal mental development and extensive bone changes throughout the body. It mainly affects the spine and articular cartilage. It mainly affects neck, chest, and spine deformities, and the skull and facial bones are mostly abnormal Affected. After 3 to 4 years of age, patients had obvious physical and skeletal abnormalities, including normal head, short neck, dwarf body shape, relatively long limbs, hip dislocation or varus, kyphotic deformity, and chicken breasts. X-ray examination of the vertebra showed that the vertebra was generally flat and the upper and lower edges were irregular. A large amount of mucopolysaccharide is excreted in the urine.

(2) Myotonic muscular dystrophy is a group of autosomal dominant hereditary diseases involving multiple systems. Congenital infantile disease can occur after birth, and is characterized by atrophy, weakness, and rigidity of the affected skeletal muscles. The early appearance of facial muscle weakness is an important manifestation. It has an axe-like face and gooseneck. Nervous system, etc. The skull X-ray showed a thickened skull and a smaller saddle.