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Disease Profile

Facial onset sensory and motor neuronopathy

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Adult

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ICD-10

G60.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Facial onset sensorimotor neuronopathy syndrome; FOSMN syndrome; Facial onset sensory and motor neuronopathy syndrome

Categories

Congenital and Genetic Diseases; Nervous System Diseases

Summary

Facial onset sensory and motor neuronopathy (FOSMN) is a rare and slowly progressive motor neuron disorder. Affected people initially experience facial tingling and numbness which eventually spread to the scalp, neck, upper trunk and upper limbs. These sensory abnormalities are later followed by the onset of motor symptoms such as cramps, muscle twitches, difficulty swallowing, dysarthria, muscle weakness and atrophy. The hallmark of FOSMN is a reduced or absent corneal reflex (the reflex to blink when something touches the eye). The underlying cause is currently unknown. Most cases appear to occur sporadically in people with no family history of the condition. Although there is no consensus regarding the best treatment options for FOSMN, some affected people have temporary improvement in response to intravenous immunoglobulin or plasmapheresis.[1][2][3]

Symptoms

Signs and symptoms of facial onset sensory and motor neuronopathy (FOSMN) generally become apparent by age 54 (range 38-77 years) and vary significantly from person to person. The earliest symptoms include facial tingling and numbness which eventually spread to the scalp, neck, upper trunk and upper limbs. These sensory abnormalities often present months to years prior to the development of motor symptoms such as cramps, muscle twitches, difficulty swallowing, dysarthria, muscle weakness and atrophy. The hallmark of FOSMN is the reduced or absence of the corneal reflex (the reflex to blink when something touches the eye).[1][2][3]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Dysarthria
Difficulty articulating speech
0001260
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty

[ more ]

0002015
Fasciculations
Muscle twitch
0002380
Muscle spasm
0003394
Muscle weakness
Muscular weakness
0001324
Paresthesia
Pins and needles feeling
Tingling

[ more ]

0003401
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting

[ more ]

0003202

Cause

The underlying cause of facial onset sensory and motor neuronopathy (FOSMN) is currently unknown. Because the clinical features and severity of the condition can vary significantly from person to person, it is thought that there may be a multifactorial cause.[1] Some studies suggest that the condition may occur due to an abnormal immune response or neurodegeneration (degeneration of certain motor and sensory neurons, specifically).[1][2]

Studies have also shown that SOD1 and OPMD genes may play a role in FOSMN; however, the specific association is unclear. Although there are currently no familial cases of FOSMN reported in the medical literature, some scientists suspect that newer genetic testing technologies may uncover additional genetic factors.[1]

Diagnosis

Due to the small number of reported cases, there are no agreed upon diagnostic criteria for facial onset sensory and motor neuronopathy. A diagnosis is often suspected based on the presence of characteristic signs and symptoms. Additional tests may then be ordered to support the diagnosis and rule out other conditions that are associated with similar features. These include:[1]

Treatment

Due to the rarity of the condition, the best approach for effective treatment is currently unclear. Several treatments have been mentioned in case reports including intravenous immunoglobulin (IVIG), plasmapheresis (PE), corticosteroids, azathioprine, mycophenolate mofetil, and rituximab. Although some patients showed temporary improvements with IVIG and PE, the majority of cases did not respond to any of these treatments.[1]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    Where to Start

      In-Depth Information

      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Facial onset sensory and motor neuronopathy. Click on the link to view a sample search on this topic.

        References

        1. Zheng Q1, Chu L, Tan L, Zhang H. Facial onset sensory and motor neuronopathy. Neurol Sci. December 2016; 37(12):1905-1909.
        2. Ziso B, Williams TL, Walters RJ, Jaiser SR, Attems J, Wieshmann UC, Larner AJ, Jacob A. Facial Onset Sensory and Motor Neuronopathy: Further Evidence for a TDP-43 Proteinopathy. Case Rep Neurol. April 2015; 7(1):95-100.
        3. Fluchere F, Verschueren A, Cintas P, Franques J, Serratrice J, Weiller PJ, Azulay JP, Pouget J, Attarian S. Clinical features and follow-up of four new cases of facial-onset sensory and motor neuronopathy. Muscle Nerve. Jan 2011; 43(1):136-140.

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