OLIVERI Maria Beatriz
congresos y reuniones científicas
Osteoporosis in a patient with Thomsen's disease
BAGUR A; LEVY M.; OLIVERI BEATRIZ
Congreso; ECTS meeting; 2009
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.