Facial onset sensory and motor neuronopathy (FOSMN) syndrome responding to immunotherapies

Clinical features and follow‐up of four new cases of facial‐onset sensory and motor neuronopathy

“…Two other cases were subsequently reported by Isoardo et al2 and Hakonohara et al3 In our study, cases 1 and 3 most closely resembled those described previously, and the clinical evolution and electrophysiological findings were similar in all respects. The only difference between our patient 2 and the previously described FOSMN syndrome patients1–3 was that SNAPs were normal in the upper limbs of our patient. This is the first case study of a female with FOSMN syndrome, and thus it seems that FOSMN syndrome is unlikely to be an X‐linked inherited disorder that occurs only in males.…”

“…In the second phase, these sensorimotor symptoms spread downward to affect the neck and then the upper limbs. Only six case reports (all involving males) have been published to date 1–3. The aim of this study was to report the clinical features and follow‐up of three other patients with FOSMN syndrome, including the first known female case.…”

Heterozygous D90A-SOD1 mutation in a patient with facial onset sensory motor neuronopathy (FOSMN) syndrome: a bridge to amyotrophic lateral sclerosis

“…They include the anecdotal observation of TAR DNA-binding protein 43 inclusions in one patient,3 the disproportion between almost negligible sensory symptoms and progressive bulbar and upper limb muscle waste and weakness, and the dismal prognosis. Moreover, FOSMN syndrome appeared not responsive to immune-modulatory and immune-suppressive treatments,3 4 7 except in single cases over short follow-up periods 5 8. Our finding of heterozygous D90A-SOD1 mutation in a sporadic case presenting with clinical and neurophysiologic features of FOSMN syndrome strengthened the link with ALS.…”

Facial Onset Sensorimotor Neuronopathy Syndrome

“…[1][2][3][4] Besides this gender difference, our patients had other distinctive features. [1][2][3][4] Besides this gender difference, our patients had other distinctive features.…”

“…[1][2][3][4] The numbness slowly progressed for more than 2-6 years from the lower face to the entire face, scalp, upper back, arms, and upper chest. [1][2][3][4] The numbness slowly progressed for more than 2-6 years from the lower face to the entire face, scalp, upper back, arms, and upper chest.…”