Autosomal recessive myogenic arthrogryposis multiplex congenita

MONDO:0017892

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.

Also known as: SYNE1-related AMC, SYNE1-related arthrogryposis multiplex congenita, autosomal recessive myogenic AMC

44 clinical trials for this condition and its sub-types.

Follow this condition — get notified about new trials

Broader categories

Sort by