Diagnosis requires a neurological examination and neuroimaging can be helpful. BVVL can be differentially diagnosed from similar conditions like Fazio-Londe syndrome and amyotrophic lateral sclerosis, in that those two conditions don't involve sensorineural hearing loss, while BVVL, Madras motor neuron disease, Nathalie syndrome, and Boltshauser syndrome do. Nathalie syndrome does not involve lower cranial nerve symptoms, so it can be excluded if those are present. If there is evidence of lower motor neuron involvement, Boltshauser syndrome can be excluded. Finally, if there is a family history of the condition, then BVVL is more likely than MMND, as MMND tends to be sporadic. Genetic testing is able to identify genetic mutations underlying BVVL.
Brown–Vialetto–Van Laere syndrome
Nicolau–Balus syndrome
Nance–Horan syndrome
Dejerine–Sottas disease
Bart–Pumphrey syndrome
Temple–Baraitser syndrome
McGillivray syndrome
Bowen–Conradi syndrome