ABSTRACT
The term 'musculoskeletal' refers to the muscles and skeleton. Disorders in this group include those that cause bone deformities, leading to characteristic features such as clubfoot. Connective tissue joins together and supports structures in the body. There are more than 200 disorders that affect the connective tissues. They are caused by defects in the genes that are responsible for building tissues. The different forms of hereditary amyloidosis do vary with regard to the organs of the body that are involved. Symptoms vary widely and depend upon which tissues and organs are damaged by the build-up of amyloid protein in each case. Lowe syndrome is a rare metabolic disease that afects males only. Lowe syndrome can be diagnosed on the basis of skin tests, enzyme deficiency and DNA analysis, and study of tissue samples to identify abnormalities of the kidney, testes and/or brain.
