New findings in facial-onset sensory and motor neuronopathy (FOSMN) syndrome

Pinto, Wladimir B.V.R.; Naylor, Fernando George Monteiro; Chieia, Marco Antônio Troccoli; Souza, Paulo Victor Sgobbi de; Oliveira, Acary Sb

doi:10.1016/j.neurol.2018.04.010

Cited by 20 publications

(32 citation statements)

References 32 publications

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“…Thus, we think that taste disorder in our patient was associated with FOSMN. Approximately 50 patients with FOSMN have been described in the literature to date [10,11,18], with 8 of them showing taste disturbance (Table 1). Most patients with taste disorder developed taste disturbance during the course of the disease.…”

Section: Discussionmentioning

confidence: 99%

Taste disorder in facial onset sensory and motor neuronopathy: a case report

et al. 2020

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Background: Taste disorder is a common symptom in the general population. Several studies have shown that patients with neurological disorders, such as amyotrophic lateral sclerosis and Parkinson's disease, develop taste disturbance. Facial onset sensory and motor neuronopathy (FOSMN) is a rare disease characterized by sensory disturbance and weakness spreading from the face to the limbs caudally. We describe a patient with FOSMN who showed taste disorder as the sole initial symptom. Case presentation: A 49-year-old man who smoked cigarettes developed taste disturbance. Despite using zinc supplements, an herbal medication, and an ointment, his taste disorder worsened. 4 years later, a tingling feeling emerged at the tip of his tongue and gradually spread to his entire lips. At 55 years of age, he showed difficulty in swallowing, followed by facial paresthesia, muscle atrophy, and weakness in the face and upper limbs without apparent upper motor neuron sign. Cessation of smoking did not improve his taste disturbance, and he was unable to discriminate different tastes on the entire tongue. In an electrogustometric study, electrical stimulation did not induce any type of taste sensation. Blink reflex showed delayed or diminished R2 responses. Needle electromyography revealed severe chronic neurogenic changes in the tongue and masseter muscles. Mild chronic neurogenic changes were also observed in the limbs. In the thoracic paraspinal muscles, active neurogenic changes were detected. Findings of hematological and cerebrospinal fluid analyses, and magnetic resonance images of the brain and spinal cord were unremarkable. One cycle of intravenous immunoglobulin therapy did not improve his symptoms. We diagnosed him as having FOSMN with the sole initial symptom of taste disorder. Nine years after the onset of taste disorder, he developed impaired sensation of touch in the right upper limb and required tube feeding and ventilator support. Conclusion: Taste disorder can be the initial manifestation of FOSMN and might involve the solitary nucleus.

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Section: Discussionmentioning

confidence: 99%

Taste disorder in facial onset sensory and motor neuronopathy: a case report

et al. 2020

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“…Our literature search yielded 26 full-text articles reporting on a total of 64 patients with FOSMN, of which 29 were not described in a review before. 1,[3][4][5][6][7][8][9][10][11][12][13][14][15][16][18][19][20][21][22][23][24] We further identified 7 abstracts/posters/ supplements reporting on 11 potential cases and 2 articles mentioning 10 FOSMN cases without further patient characteristics. 25,26 After reaching out to the corresponding authors, we received a detailed poster on 7 patients with FOSMN.…”

Section: Updated Case Series and Clinical Findingsmentioning

confidence: 99%

“…Upper motor neuron signs, such as brisk reflexes, Babinski sign, and clonus, were reported in 27 cases. [3][4][5][6][7][8][9][10][11]14 Natural history The mean age at onset is approximately 55 years (range 7-78 years). The rate of progression is highly variable, and survival ranges from 14 months to over 46 years.…”

Section: Updated Case Series and Clinical Findingsmentioning

confidence: 99%

“…16 Ninety-seven percent of the patients developed bulbar symptoms. 1,[3][4][5][6][7][8][9][10][11]13,14,[16][17][18][19][20][21][22][23] Weight loss resulting from dysphagia in FOSMN may be severe, and in 34 cases, gastrostomy was indicated. 1,3,4,7,8,10,11,13,14,[16][17][18][19]23 The mean disease duration before placement was 5 (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14) years after onset of the symptoms.…”

Section: Updated Case Series and Clinical Findingsmentioning

confidence: 99%

“…2 In general, only the lower motor neuron system is involved, although upper motor neuron signs have been reported in a few cases. [3][4][5][6][7][8][9][10][11] Pathogenesis is uncertain. Initial indications suggested an autoimmune basis since autoantibodies have been reported as well as a partial and subjective response to immunotherapy.…”

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Facial Onset Sensory and Motor Neuronopathy

et al. 2021

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Purpose of reviewTo improve our clinical understanding of facial onset sensory and motor neuronopathy (FOSMN).Recent findingsWe identified 29 new cases and 71 literature cases, resulting in a cohort of 100 patients with FOSMN. During follow-up, cognitive and behavioral changes became apparent in 8 patients, suggesting that changes within the spectrum of frontotemporal dementia (FTD) are a part of the natural history of FOSMN. Another new finding was chorea, seen in 6 cases. Despite reports of autoantibodies, there is no consistent evidence to suggest an autoimmune pathogenesis. Four of 6 autopsies had TAR DNA-binding protein (TDP) 43 pathology. Seven cases had genetic mutations associated with neurodegenerative diseases.SummaryFOSMN is a rare disease with a highly characteristic onset and pattern of disease progression involving initial sensory disturbances, followed by bulbar weakness with a cranial to caudal spread of pathology. Although not conclusive, the balance of evidence suggests that FOSMN is most likely to be a TDP-43 proteinopathy within the amyotrophic lateral sclerosis–FTD spectrum.

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Facial Numbness, Dysarthria, Muscle Atrophy, and Weakness in a Young Patient

2021

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A 19-year-old man presented with 4 years of facial numbness and 3 years of progressive dysarthria and dysphagia. Additionally, 18 months prior to presentation, he also developed arm weakness and hand atrophy followed by leg weakness 1 year later.On examination, dysarthria, bilateral peripheral facial paralysis (Figure, A), reduced facial touch and vibration sensitivity in the mandible, temporal muscle atrophy (Figure, B), and poor soft palate motility were observed. Corneal reflexes were bilaterally absent. Deltoid, calf, and distal muscle atrophy (Figure, C) and weakness (right extensor carpi, Medical Research Council [MRC] grade 0; neck flexion, MRC grade 4; proximal muscles, MRC grade 3; other arm distal muscles, MRC grade 2-3; leg distal muscles, MRC grades 2-4) were observed. Absence of the bilateral biceps and triceps reflexes, right patellar tendon hyperreflexia, discontinuous clonus in the left knee, a Babinski sign present on the right side, and an unstable and steppage gait were also observed.Thyroid function was normal, and the levels of creatine kinase; blood lipids; lactic acid; vitamin B 12 ; antinuclear antibody; serum immunoglobulin A, G, and M; protein, glucose, chlorides, and cytological examination of cerebrospinal fluid; and serum antiganglioside antibodies to GM1, GM2, GD1a, GD1b, GT1a, and sulfatide were normal. Cranial and wholespine magnetic resonance imaging findings were also normal. The bilateral blink reflex was absent. The nerve conduction study revealed reduced compound muscle action potential and sensory nerve action potential, suggesting axonal damage in bilateral facial and multiple limb nerves. Lack of spontaneous potentials in electromyography revealed chronic neuronal damage of limb muscles (left deltoid, extensor digitorum communis, musculus abductor digiti minimi, tibialis anterior, and quadriceps femoris). Right biceps brachii biopsy demonstrated severe neurogenic damage. The whole-exon sequencing showed no pathogenic variant. No GGGGCC repeat expansion was found in C9orf72, and a normal copy number variation was observed at the PMP22 gene.

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New findings in facial-onset sensory and motor neuronopathy (FOSMN) syndrome

Cited by 20 publications

References 32 publications

Taste disorder in facial onset sensory and motor neuronopathy: a case report

Taste disorder in facial onset sensory and motor neuronopathy: a case report

Facial Onset Sensory and Motor Neuronopathy

Facial Numbness, Dysarthria, Muscle Atrophy, and Weakness in a Young Patient

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