children s health issues
Arthrogryposis Multiplex Congenita
Diagnosis of Arthrogryposis Multiplex Congenita
A doctor's evaluation Genetic testing Before birth, abnormal limbs may be seen during a routine ultrasound. If abnormal limbs are seen, doctors may do ultrasounds of other parts of the fetus's body or genetic testing on the fetus using Chorionic Villus Sampling or After birth, doctors do a physical examination and note the baby's frozen joints and limbs. A baby who has these birth defects may be evaluated by a geneticist. A geneticist is a doctor who specializes in genetics (the science of genes and how certain qualities or traits are passed from parents to offspring). Genetic testing of a sample of the baby's blood may be done to look for chromosome and gene abnormalities. This testing can help doctors determine whether a specific genetic disorder is the cause and rule out other causes. Tests of the muscles, such as a muscle biopsy (removal of a sample of muscle for examination) and Electromyography and Nerve Conduction Studies (EMG), may be done to help doctors distinguish between various types of arthrogryposis. 