Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without opthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life. Disease data Klasyfikacja Disease Synonimy Autosomal recessive myogenic AMC AMC zwiaząna z SYNE1 Artrogrypoza związana z SYNE1 Autosomalna recesywna miogeniczna AMC SYNE1-related AMC SYNE1-related arthrogryposis multiplex congenita Kod ORPHA 319332 Kod OMIM 618484 Kod ICD10 Q74.3 Kod ICD11 - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl