Facial onset sensory and motor neuronopathy

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Facial onset sensory and motor neuronopathy
Abnormalities in FOSMN (distribution of sensory, motor, and electrophysiologic findings in individuals with FOSMN[1])

Facial onset sensory and motor neuronopathy, often abbreviated FOSMN, is a rare disorder of the nervous system in which sensory and motor nerves of the face and limbs progressively degenerate over a period of months to years. This degenerative process, the cause of which is unknown, eventually results in sensory and motor symptoms — the former consisting mainly of paresthesia followed by numbness, and the latter in muscle weakness, atrophy, and eventual paralysis. In many ways, it is reminiscent of the much better known condition amyotrophic lateral sclerosis, with which it is closely related. There is no cure; treatment is supportive. Life expectancy may be shortened by respiratory complications arising from weakness of the muscles that aid breathing and swallowing. It was first described in four patients by Vucic and colleagues[2] working at the Massachusetts General Hospital in the United States; subsequent reports from the United Kingdom,[3] Europe and Asia[4] point to a global incidence of the disease. It is thought to be exceptionally rare, with only approximately 100 individuals[5] described to date in the medical literature.[citation needed]

Signs and symptoms

The presentation of FOSMN syndrome is as follows:[6]

Cause

The aetiology of FOSMN is unknown.

Diagnosis

In common with many neurological diseases, there is no one 'test' for FOSMN. The diagnosis can be notoriously difficult, mainly on account of its rarity: even expert neurologists experienced in the diagnosis of diseases of the peripheral nervous system may not previously have encountered a case. The principal differential diagnosis to consider is amyotrophic lateral sclerosis or a related motor neurone disorder: the chief distinction between the two is the presence of sensory abnormalities in FOSMN, and their absence in the motor neurone disorders. Diagnostic tests such as nerve conduction studies, electromyography, cerebrospinal fluid analyses, and blood tests can help narrow the diagnostic possibilities and support a clinical diagnosis.[5]

Treatment

There is currently no cure for FOSMN. Supportive treatment, that enables patients to cope with symptoms, is usually helpful.[citation needed]

References

  1. ↑ Boer, Eva M. J. de; Barritt, Andrew W.; Elamin, Marwa; Anderson, Stuart J.; Broad, Rebecca; Nisbet, Angus; Goedee, H. Stephan; Costa, Juan F. Vázquez; Prudlo, Johannes; Vedeler, Christian A.; Fernandez, Julio Pardo; Panades, Mónica Povedano; Aguilo, Maria A. Albertí; Bella, Eleonora Dalla; Lauria, Giuseppe; Pinto, Wladimir B. V. R.; Souza, Paulo V. S. de; Oliveira, Acary S. B.; Toro, Camilo; Iersel, Joost van; Parson, Malu; Harschnitz, Oliver; Berg, Leonard H. van den; Veldink, Jan H.; Al-Chalabi, Ammar; Leigh, Peter N.; Es, Michael A. van (1 April 2021). "Facial Onset Sensory and Motor Neuronopathy: New Cases, Cognitive Changes, and Pathophysiology". Neurology: Clinical Practice. 11 (2): 147–157. doi:10.1212/CPJ.0000000000000834. ISSN 2163-0402. Archived from the original on 8 December 2022. Retrieved 2 December 2023.
  2. ↑ Vucic, S; et al. (Dec 2006). "Facial onset sensory and motor neuronopathy (FOSMN syndrome): a novel syndrome in neurology". Brain. 129 (12): 3384–90. doi:10.1093/brain/awl258. PMID 17012296.
  3. ↑ Broad, R; Leigh, PN (Aug 2015). "Recognising facial onset sensory motor neuronopathy syndrome: insight from six new cases". Pract Neurol. 15 (4): 293–7. doi:10.1136/practneurol-2014-000984. PMID 25991863. S2CID 27472000. Archived from the original on 1 May 2021. Retrieved 1 May 2021.
  4. ↑ Sonoda, K; et al. (Sep 2013). "TAR DNA-binding protein 43 pathology in a case clinically diagnosed with facial-onset sensory and motor neuronopathy syndrome: an autopsied case report and a review of the literature". J Neurol Sci. 332 (1–2): 148–53. doi:10.1016/j.jns.2013.06.027. PMID 23849263. S2CID 21062923. Archived from the original on 1 May 2021. Retrieved 1 May 2021.
  5. ↑ 5.0 5.1 de Boer, EMJ; et al. (Apr 2021). "Facial Onset Sensory and Motor Neuronopathy: New Cases, Cognitive Changes, and Pathophysiology". Neurol Clin Pract. 11 (2): 147–57. doi:10.1212/CPJ.0000000000000834. PMC 8032419. PMID 33842068.
  6. ↑ "Facial onset sensory and motor neuronopathy - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Archived from the original on 2022-05-27. Retrieved 2023-12-02.


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