arthrogryposis multiplex congenita autosomal recessive myogenic arthrogryposis multiplex congenita https://www.malacards.org/card/autosomal_recessive_myogenic_arthrogryposis_multiplex_congenita SYNE1-related AMC autosomal recessive myogenic AMC MONDO:0017892 GARD:0017447 MEDGEN:1647450 UMLS:C4707155 Orphanet:319332 SCTID:764812008 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. SYNE1-related arthrogryposis multiplex congenita congenital muscular dystrophy