Congenital and Hereditary Diseases of the Spinal Cord, Seminars in Ultrasound, CT and MRI

Lily L. Wang, Karin S. Bierbrauer, Available online 14 July 2016, ISSN 0887-2171, doi:10.1053/j.sult.2016.07.002.

Friedreich’s ataxia is a hereditary autosomal recessive movement disorder usually beginning in childhood and progresses with age. The cerebellum and the spinal cord are involved. The autonomic system can be involved as the disease progresses. Cardiac disease, diabetes, scoliosis are common associations. Genetic testing offers a conclusive diagnosis in patients with a compatible history and clinical examination. Imaging in Friedreich’s ataxia has been mostly focused in the brain. Spinal findings are non-specific on conventional MRI with cervical cord atrophy.