Multisystemic <i>RFC1</i> -Related Disorder

Abstract

The presence of MN involvement, motor neuropathy, small fiber neuropathy, or extrapyramidal signs should not preclude <i>RFC1</i> testing in cases of sensory neuronopathy. Indeed, the <i>RFC1</i> spectrum can overlap not only with multiple system atrophy but also with hereditary motor and sensory neuropathy, hereditary sensory and autonomic neuropathy, and feeding dystonia phenotypes. Some clinical-paraclinical dissociations can pose diagnostic challenges, namely large and small fiber neuropathy and sudomotor dysfunction which are usually subclinical.