Eighteen years old Caucasian man with progressive familial disabling disease

DBS, male, Caucasian, 18 years and 6 months old. The patient had been diagnosed with progressive neurological disease at 8 years of age. He started to walk about age 20 months (delays in waking). Learning disabilities, such as developing speech later than usual and slight mental retardation.

He has a long history of progressive symmetrical weakening of his muscles of inferior members most notably in the proximal musculature of the legs, pelvis, and arms.

By age 9, he required orthotic braces to assist his walking, and by age 17, he was confined to wheelchair ambulation (skeletal deformity).