Kongenitální myotonická dystrofie - kazuistika z pohledu ortopeda

Congenital Myotonic Dystrophy - Case-report from the Orthopaedist’s Aspect

The authors present the case-report of a girl with congenital myotonic dystrophy whom they transferred froma childrens home to the orthopaedic clinic on account of rigid pedes equinovari excavati at the age of 3 years. Inthis child it was an autosomal dominant form of the disease with transmission from the mother. In the clinicalpicture dominated in addition to pedes equinovari also psychomotor retardation and pectus excavatus. By surgeryof both feet and intense rehabilitation it proved possible to verticalize the patient and teach her unaided walking.The authors draw attention to the variability of the clinicalmanifestation in the diagnosis of myotonic dystrophyand sometimes also a problematic prognosis.They emphasize the difference of surgical therapy between pes equinovarus congenitus, pes equinovarus inarthrogryposis multiplex congenita and pes equinovarus in myotonic dystrophy. They present excellent results oforthopaedic therapy in a child after 2 years and at the same time draw attention to the advancing psychosomaticdevelopment in the girl who is 5 years old by now.

Key words:
congenital myotonic dystrophy, contractures of the major joints, pes equinovarus