Multisystemic RFC1-Related Disorder: Expanding the Phenotype Beyond Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

Discussion
The presence of MN involvement, motor neuropathy, small fiber neuropathy, or extrapyramidal signs should not preclude RFC1 testing in cases of sensory neuronopathy. Indeed, the RFC1 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.

Source: Neurology Clinical Practice - September 5, 2023 Category: Neurology Authors: Malaquias, M. J., Braz, L., Santos Silva, C., Damasio, J., Jorge, A., Lemos, J. M., Campos, C. F., Garcez, D., Oliveira Santos, M., Velon, A. G., Caetano, A., Calejo, M., Fernandes, P., Rego, A., Castro, S., Sousa, A. P., Cardoso, M. N., Fernandes, M., Pi Tags: Dystonia, All Neuromuscular Disease, Vertigo, All Genetics Research Article Source Type: research