Musculoskeletal deformities in Behr syndrome

Seventeen children with Behr syndrome were investigated, focusing on the mu sculoskeletal deformities and long-term outcome. Behr syndrome is character ized by optic atrophy beginning in early childhood associated with ataxia, spasticity, mental retardation, and posterior column sensory loss. The atax ia, spasticity, and muscle contractures, mainly of the hip adductors, hamst rings, and soleus, are progressive and become more prominent in the: second decade. In 70% of the patients, contractures developed in tile lower limbs , requiring surgery mainly for the Achilles tendon, hamstrings, and adducto r longus. At last follow-up at an average age of 21.7 pears (range, 8-31 ye ars), 13 of the patients are housebound walkers, 2 are nonfunctional walker s, and 2 are nonwalkers.