J Korean Child Neurol Soc.  2003 May;11(1):158-162.

A Case of Ullrich's Disease

• Lee BH
• Lim JH
• Bae SN
• Lee KW
• Nam SO
• Choi KU

Abstract

Ullrich's disease is a congenital muscular dystrophy clinically characterized by generalized muscle weakness, multiple contractures of the proximal joints, and hyperextensibility of the distal joints. All the patients develop rigidity of spine, often assoicated with scoliosis, failure to thrive, and early and severe respiratory involvement, irrespective of their levels of motor function. Intellectual development is normal. The biopsied muscles show dystrophies including remarkable variation in the fiber size, notably proliferated endomysial connective tissues, and a lot of degenerated and regenerated fibers. The expression of merosin and dytrophin is normal. Recent studies have demonstrated that collagen VI is deficient in the muscles of the patients with Ullrich's disease, and some result from recessive mutations of the collagen VIalpha 2 gene(COL6A2). And a marked reduction of fibronectin receptors in the extracellular matrix of skin and cultured fibroblasts of these patients is also reported. These results suggest that collagen VI deficiency may lead to the reduction of fibronectin receptors and that any abnormalities of cell adhesion may be involved in the pathogenesis of the disease. A case of Ullrich's disease has not been reported yet in Korea. So, we describe a male patient with Ullrich's disease with a brief review of the literature.

Keyword

Ullrich's disease; Collagen VI; Congenital muscular dystrophy

MeSH Terms

Cell Adhesion
Collagen
Connective Tissue
Contracture
Extracellular Matrix
Failure to Thrive
Fibroblasts
Humans
Integrin alpha5beta1
Joints
Korea
Laminin
Male
Muscle Weakness
Muscles
Muscular Dystrophies
Receptors, Fibronectin
Scoliosis
Skin
Spine
Collagen
Integrin alpha5beta1
Laminin
Receptors, Fibronectin