OPDM ABCD3

Oculopharyngodistal myopathy (OPDM) is a rare, adult-onset hereditary muscle disease. People with OPDM present with progressive eye and throat (pharyngeal) problems and involvement of the muscles of the lower legs and arms. Symptoms may include eyelid drooping (ptosis), swallowing difficulty, hoarse and nasal voice, leg and arm weakness, as well as muscle wasting in the face and in the legs and arms. Many people have respiratory problems due to respiratory muscle weakness. In rare cases, there is also hearing loss, as well as severe weakness in muscles of the forearms and thighs. As the disease progresses, other muscles may be affected. A blood exam may show an increased creatine kinase level and an abnormal EMG¹.

Prevalence

Found in individuals of European ancestry².

Age of Onset Details

Typical: 24-30; Range: 10-50³.

Locus

hg19

chr1:94883978-94884000

hg38

chr1:94418422-94418444

t2t

chr1:94266545-94266567

Details

Characterized in eight unrelated families which were used to establish benign (3-44) and pathogenic (118-694) ranges³.

Mechanism

Potentially over-expression of transcripts³.

Year

2023³

Gene Strand

Alleles

Ref. Motif

GCC

Pathogenic (ref.)

GCC

Pathogenic (gene)

CCG

References

Direct supporting references for info on this page.

Ontology Lookup Service (OLS)

mondo:0025193

Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis.

Elisa,Vegezzi, Hiroyuki,Ishiura, D Cristopher,Bragg, David,Pellerin, Francesca,Magrinelli, Riccardo,Currò, Stefano,Facchini, Arianna,Tucci, John,Hardy, Nutan,Sharma, Matt C,Danzi, Stephan,Zuchner, Bernard,Brais, Mary M,Reilly, Shoji,Tsuji, Henry,Houlden, Andrea,Cortese

The Lancet. Neurology · 2024-07-01

pmid:38876750

A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.

Andrea,Cortese, Sarah J,Beecroft, Stefano,Facchini, Riccardo,Curro, Macarena,Cabrera-Serrano, Igor,Stevanovski, Sanjog R,Chintalaphani, Hasindu,Gamaarachchi, Ben,Weisburd, Chiara,Folland, Gavin,Monahan, Carolin K,Scriba, Lein,Dofash, Mridul,Johari, Bianca R,Grosz, Melina,Ellis, Liam G,Fearnley, Rick,Tankard, Justin,Read, Ashirwad,Merve, Natalia,Dominik, Elisa,Vegezzi, Ricardo P,Schnekenberg, Gorka,Fernandez-Eulate, Marion,Masingue, Diane,Giovannini, Martin B,Delatycki, Elsdon,Storey, Mac,Gardner, David J,Amor, Garth,Nicholson, Steve,Vucic, Robert D,Henderson, Thomas,Robertson, Jason,Dyke, Vicki,Fabian, Frank,Mastaglia, Mark R,Davis, Marina,Kennerson, Ros,Quinlivan, Simon,Hammans, Arianna,Tucci, Melanie,Bahlo, Catriona A,McLean, Nigel G,Laing, Tanya,Stojkovic, Henry,Houlden, Michael G,Hanna, Ira W,Deveson, Paul J,Lockhart, Phillipa J,Lamont, Michael C,Fahey, Enrico,Bugiardini, Gianina,Ravenscroft

Nature communications · 2024-07-27

pmid:39068203

Additional Literature

Raw PubMed search results
(All PubMed results returned by searching for this gene, tandem repeats, and disease, in medline format)