Elbow proprioception is normal in patients with a congenital absence of functional muscle spindles.

Abstract

Individuals with hereditary sensory and autonomic neuropathy type III (HSAN III), also known as Riley-Day syndrome or familial dysautonomia, do not have functional muscle spindle afferents but do have essentially normal cutaneous mechanoreceptors. Lack of muscle spindle feedback from the legs may account for the poor proprioception at the knee and the ataxic gait typical of HSAN III. Given that functional muscle spindle afferents are also absent in the upper limb, we assessed whether proprioception at the elbow was likewise compromised. Passive joint angle matching showed that proprioception was normal at the elbow, suggesting that individuals with HSAN III rely more on cutaneous afferents around the elbow.