Autosomal recessive paraparesis with amyotrophy of the hands and feet

Abstract

We present 2 sibs with autosomal recessive spastic paraparesis and severe amyotrophy of the distal limb muscles. Elaborate neurophysiologic studies disclosed slight to moderate slowing of motor conduction, moderate to severe reduction of motor action potentials, denervation potentials, and increased distal motor latencies. This syndrome, not having been reported since the papers by Ormerod (5) in 1904 and Holmes (6) in 1905, constitutes another rare, benign, complicated form of hereditary spastic paraparesis.