Osteoporosis in a patient with Thomsen's disease

BAGUR A; LEVY M.; OLIVERI BEATRIZ

Viena

Congreso; ECTS meeting; 2009

ECTS

Thomsen´s disease is a rare muscular disorder with autosomal dominant heredity. It is a hereditary chloride channel disorder (gene CLCN1 on chromosome 7) characterized by a delayed relaxation of skeletal muscle. The phenotypic spectrum of myotonia congenita ranges from mild myotonia disclosed only by clinical examination to severe and disabling myotonia with transient weakness and myopathy. The aim of this case report is to describe a patient with Thomsen´s disease and osteoporosis and his response to bisphosphonate treatment.