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Mondo Disease Ontology
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Obsolete spasmodic dystonia #7187

Closed galyea123 closed 8 months ago

galyea123 commented 9 months ago

Spasmodic dystonia

Obsolete in Orphanet https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93961

This entity has been obsoleted from the Orphanet nomenclature of rare diseases.

Instead, consider using Focal, segmental or multifocal dystonia

Of note: Primary dystonia, DYT4 type](https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=98805) is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).

0000-001-9310-0163

sabrinatoro commented 9 months ago

Orphanet:93961 has a source "MONDO:equivalentObsolete"

Question to experts: is "Spasmodic dystonia" an actual disease? If so, we should keep the term. If not, we should obsolete it on the basis that it is not a disease.

galyea123 commented 9 months ago

Hi Sabrina! Just wanted to let you know I also sent a message to Orphanet to know more about the history of the decision in obsoleting the term laryngeal dystonia.

Thank you, Gioconda

From: Sabrina Toro @.> Sent: Tuesday, January 30, 2024 6:21 PM To: monarch-initiative/mondo @.> Cc: Gioconda Alyea @.>; Author @.> Subject: Re: [monarch-initiative/mondo] Obsolete spasmodic dystonia (Issue #7187)

Orphanet:93961 has a source "MONDO:equivalentObsolete"

Question to experts: is "Spasmodic dystonia" an actual disease? If so, we should keep the term. If not, we should obsolete it on the basis that it is not a disease.

- Reply to this email directly, view it on GitHubhttps://github.com/monarch-initiative/mondo/issues/7187#issuecomment-1918078785, or unsubscribehttps://github.com/notifications/unsubscribe-auth/A4QAWD3WEXHPEAU55NTOIVLYRF54TAVCNFSM6AAAAABCJT6KVSVHI2DSMVQWIX3LMV43OSLTON2WKQ3PNVWWK3TUHMYTSMJYGA3TQNZYGU. You are receiving this because you authored the thread.Message ID: @.**@.>>

Any review, use, distribution or disclosure by others is strictly prohibited.

galyea123 commented 9 months ago

Hi Sabrina!

After contacted Orphanet to clarify the reason for obsoletion I learned that they obsoleted the term 'Laryngeal dyskinesia' (Laryngeal dystonia) back in 2004, after an expert review who stated that "the pure focal forms like laryngeal dystonias are not diseases but clinical manifestations occurring mostly alone or simultaneously in hereditary dystonias". They decided to keep only the genetic forms under ORPHA1866 (Focal, segmental or multifocal dystonia). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1866

Useful sources included by Orphanet : PMID:17242025 (2007) 'Do primary adult-onset focal dystonias share aetiological factors?'https://pubmed.ncbi.nlm.nih.gov/17242025/ and PMID:37476305 (2023) 'Phenotypic Variability in Acquired and Idiopathic Dystonia'https://pubmed.ncbi.nlm.nih.gov/37476305/

Thank you, Gioconda Alyea From: Sabrina Toro @.> Sent: Tuesday, January 30, 2024 6:21 PM To: monarch-initiative/mondo @.> Cc: Gioconda Alyea @.>; Author @.> Subject: Re: [monarch-initiative/mondo] Obsolete spasmodic dystonia (Issue #7187)

Orphanet:93961 has a source "MONDO:equivalentObsolete"

Question to experts: is "Spasmodic dystonia" an actual disease? If so, we should keep the term. If not, we should obsolete it on the basis that it is not a disease.

- Reply to this email directly, view it on GitHubhttps://github.com/monarch-initiative/mondo/issues/7187#issuecomment-1918078785, or unsubscribehttps://github.com/notifications/unsubscribe-auth/A4QAWD3WEXHPEAU55NTOIVLYRF54TAVCNFSM6AAAAABCJT6KVSVHI2DSMVQWIX3LMV43OSLTON2WKQ3PNVWWK3TUHMYTSMJYGA3TQNZYGU. You are receiving this because you authored the thread.Message ID: @.**@.>>

Any review, use, distribution or disclosure by others is strictly prohibited.

sabrinatoro commented 9 months ago

Thank you @galyea123, this is extremely helpful!

nicolevasilevsky commented 9 months ago

@sabrinatoro what is the action for this? does it need to be obsoleted/added to the list?

sabrinatoro commented 9 months ago

@nicolevasilevsky I am still going back and forth about whether this term should be actually obsoleted or not. It is obsoleted in orphanet, but it still exists in other resources. So the action item is to make the decision on obsoletion or not. Then we can move forward accordingly.

galyea123 commented 9 months ago

Hi Sabrina! I agree that this is a hard one, as per my review I see that there are many sources that consider it to be a disease and not a clinical manifestation. Because of that I contacted Orphanet and asked for a review (their assessment was in 2004). If you decide to keep it, the following sources will be helping as supporting evidence. I do think this case is very helpful to exemplify the challenges when a disease is obsoleted in Orphanet and we found evidence that may be still worth keeping the condition. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8205448/ https://www.nidcd.nih.gov/health/spasmodic-dysphonia https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5536965/ https://aao-hnsfjournals.onlinelibrary.wiley.com/doi/10.1177/0194599817728521 https://www.researchgate.net/publication/343898191_The_prevalence_and_clinical_features_of_spasmodic_dysphonia_A_review_of_epidemiological_surveys_conducted_in_Japan https://emedicine.medscape.com/article/864079-overview#a7 https://www.aans.org/en/Patients/Neurosurgical-Conditions-and-Treatments/Dystonia https://dystonia-foundation.org/what-is-dystonia/types-dystonia/spasmodic-dysphonia/ Thank you, Gioconda From: Sabrina Toro @.> Sent: Wednesday, February 7, 2024 2:09 PM To: monarch-initiative/mondo @.> Cc: Gioconda Alyea @.>; Mention @.> Subject: Re: [monarch-initiative/mondo] Obsolete spasmodic dystonia (Issue #7187)

@nicolevasilevskyhttps://github.com/nicolevasilevsky I am still going back and forth about whether this term should be actually obsoleted or not. It is obsoleted in orphanet, but it still exists in other resources. So the action item is to make the decision on obsoletion or not. Then we can move forward accordingly.

- Reply to this email directly, view it on GitHubhttps://github.com/monarch-initiative/mondo/issues/7187#issuecomment-1932695727, or unsubscribehttps://github.com/notifications/unsubscribe-auth/A4QAWDZ7PIHX3V3PKEH253TYSPGMXAVCNFSM6AAAAABCJT6KVSVHI2DSMVQWIX3LMV43OSLTON2WKQ3PNVWWK3TUHMYTSMZSGY4TKNZSG4. You are receiving this because you were mentioned.Message ID: @.**@.>>

Any review, use, distribution or disclosure by others is strictly prohibited.

sabrinatoro commented 8 months ago

I added a comment on MONDO:0000485 (spasmodic dystonia) to indicate that we discussed this term and determined that it refers to a disease. I also added the GH tracker link, so we can get back at a future time if necessary.