autosomal recessive myogenic arthrogryposis multiplex congenita
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.
MONDO:0015168
arthrogryposis multiplex congenita
is_a
MONDO:0019950
congenital muscular dystrophy
is_a
SYNE1-related AMC
exact
SYNE1-related arthrogryposis multiplex congenita
exact
autosomal recessive myogenic AMC
exact