INVESTIGADORES
OLIVERI Maria Beatriz
congresos y reuniones científicas
Título:
Osteoporosis in a patient with Thomsen's disease
Autor/es:
BAGUR A; LEVY M.; OLIVERI BEATRIZ
Lugar:
Viena
Reunión:
Congreso; ECTS meeting; 2009
Institución organizadora:
ECTS
Resumen:
ThomsenĀ“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 ThomsenĀ“s disease and osteoporosis and his response to bisphosphonate treatment.