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Oculopharyngodistal myopathy(OPDM; FOLP-DR)

MedGen UID:
320250
•Concept ID:
C1834014
•
Disease or Syndrome
Synonym: FACIOOCULOLARYNGOPHARYNGEAL MYOPATHY WITH DISTAL AND RESPIRATORY INVOLVEMENT
SNOMED CT: Oculopharyngeal distal myopathy (763829004); Oculopharyngodistal myopathy (763829004); OPDM - oculopharyngodistal myopathy (763829004)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
 
Related genes: NOTCH2NLC, LRP12, GIPC1
 
Monarch Initiative: MONDO:0025193
OMIM®: 164310
OMIM® Phenotypic series: PS164310
Orphanet: ORPHA98897

Definition

A rare genetic neuromuscular disease with characteristics of progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia, as well as distal muscle weakness and atrophy of lower and upper extremities. Respiratory muscle involvement is common, but sensorineural hearing loss, asymmetrical extremity weakness and severe proximal weakness are rare. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Oculopharyngodistal myopathy in Orphanet.

Professional guidelines

PubMed

NOTCH2NLC-related disorders: the widening spectrum and genotype-phenotype correlation.
Fan Y, Xu Y, Shi C
J Med Genet 2022 Jan;59(1):1-9. Epub 2021 Oct 21 doi: 10.1136/jmedgenet-2021-107883. PMID: 34675123
Guidelines for genetic testing of muscle and neuromuscular junction disorders.
Nicolau S, Milone M, Liewluck T
Muscle Nerve 2021 Sep;64(3):255-269. Epub 2021 Jun 16 doi: 10.1002/mus.27337. PMID: 34133031

Recent clinical studies

Etiology

Expanded clinical spectrum of oculopharyngodistal myopathy type 1.
Shimizu T, Ishiura H, Hara M, Shibata S, Unuma A, Kubota A, Sakuishi K, Inoue K, Goto J, Takahashi Y, Shirota Y, Hamada M, Shimizu J, Tsuji S, Toda T
Muscle Nerve 2022 Dec;66(6):679-685. Epub 2022 Sep 27 doi: 10.1002/mus.27717. PMID: 36052448
Neurodegenerative diseases associated with non-coding CGG tandem repeat expansions.
Zhou ZD, Jankovic J, Ashizawa T, Tan EK
Nat Rev Neurol 2022 Mar;18(3):145-157. Epub 2022 Jan 12 doi: 10.1038/s41582-021-00612-7. PMID: 35022573
Clinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes.
Kumutpongpanich T, Ogasawara M, Ozaki A, Ishiura H, Tsuji S, Minami N, Hayashi S, Noguchi S, Iida A, Nishino I; OPDM_LRP12 Study Group, Mori-Yoshimura M, Oya Y, Ono K, Shimizu T, Kawata A, Shimohama S, Toyooka K, Endo K, Toru S, Sasaki O, Isahaya K, Takahashi MP, Iwasa K, Kira JI, Yamamoto T, Kawamoto M, Hamano T, Sugie K, Eura N, Shiota T, Koide M, Sekiya K, Kishi H, Hideyama T, Kawai S, Yanagimoto S, Sato H, Arahata H, Murayama S, Saito K, Hara H, Kanda T, Yaguchi H, Imai N, Kawagashira Y, Sanada M, Obara K, Kaido M, Furuta M, Kurashige T, Hara W, Kuzume D, Yamamoto M, Tsugawa J, Kishida H, Ishizuka N, Morimoto K, Tsuji Y, Tsuneyama A, Matsuno A, Sasaki R, Tamakoshi D, Abe E, Yamada S, Uzawa A
JAMA Neurol 2021 Jul 1;78(7):853-863. doi: 10.1001/jamaneurol.2021.1509. PMID: 34047774Free PMC Article
The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3.
Yu J, Deng J, Guo X, Shan J, Luan X, Cao L, Zhao J, Yu M, Zhang W, Lv H, Xie Z, Meng L, Zheng Y, Zhao Y, Gang Q, Wang Q, Liu J, Zhu M, Zhou B, Li P, Liu Y, Wang Y, Yan C, Hong D, Yuan Y, Wang Z
Brain 2021 Jul 28;144(6):1819-1832. doi: 10.1093/brain/awab077. PMID: 33693509Free PMC Article
Oculopharyngodistal myopathy is a distinct entity: clinical and genetic features of 47 patients.
Durmus H, Laval SH, Deymeer F, Parman Y, Kiyan E, Gokyigiti M, Ertekin C, Ercan I, Solakoglu S, Karcagi V, Straub V, Bushby K, Lochmüller H, Serdaroglu-Oflazer P
Neurology 2011 Jan 18;76(3):227-35. doi: 10.1212/WNL.0b013e318207b043. PMID: 21242490

Diagnosis

Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy.
Ogasawara M, Eura N, Iida A, Kumutpongpanich T, Minami N, Nonaka I, Hayashi S, Noguchi S, Nishino I
Acta Neuropathol Commun 2022 Dec 7;10(1):176. doi: 10.1186/s40478-022-01482-w. PMID: 36476314Free PMC Article
Oculopharyngodistal myopathy.
Yu J, Deng J, Wang Z
Curr Opin Neurol 2022 Oct 1;35(5):637-644. Epub 2022 Aug 4 doi: 10.1097/WCO.0000000000001089. PMID: 35942670
Neurodegenerative diseases associated with non-coding CGG tandem repeat expansions.
Zhou ZD, Jankovic J, Ashizawa T, Tan EK
Nat Rev Neurol 2022 Mar;18(3):145-157. Epub 2022 Jan 12 doi: 10.1038/s41582-021-00612-7. PMID: 35022573
Clinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes.
Kumutpongpanich T, Ogasawara M, Ozaki A, Ishiura H, Tsuji S, Minami N, Hayashi S, Noguchi S, Iida A, Nishino I; OPDM_LRP12 Study Group, Mori-Yoshimura M, Oya Y, Ono K, Shimizu T, Kawata A, Shimohama S, Toyooka K, Endo K, Toru S, Sasaki O, Isahaya K, Takahashi MP, Iwasa K, Kira JI, Yamamoto T, Kawamoto M, Hamano T, Sugie K, Eura N, Shiota T, Koide M, Sekiya K, Kishi H, Hideyama T, Kawai S, Yanagimoto S, Sato H, Arahata H, Murayama S, Saito K, Hara H, Kanda T, Yaguchi H, Imai N, Kawagashira Y, Sanada M, Obara K, Kaido M, Furuta M, Kurashige T, Hara W, Kuzume D, Yamamoto M, Tsugawa J, Kishida H, Ishizuka N, Morimoto K, Tsuji Y, Tsuneyama A, Matsuno A, Sasaki R, Tamakoshi D, Abe E, Yamada S, Uzawa A
JAMA Neurol 2021 Jul 1;78(7):853-863. doi: 10.1001/jamaneurol.2021.1509. PMID: 34047774Free PMC Article
Neuronal intranuclear inclusion disease: recognition and update.
Lu X, Hong D
J Neural Transm (Vienna) 2021 Mar;128(3):295-303. Epub 2021 Feb 18 doi: 10.1007/s00702-021-02313-3. PMID: 33599827

Prognosis

Oculopharyngodistal myopathy is a distinct entity: clinical and genetic features of 47 patients.
Durmus H, Laval SH, Deymeer F, Parman Y, Kiyan E, Gokyigiti M, Ertekin C, Ercan I, Solakoglu S, Karcagi V, Straub V, Bushby K, Lochmüller H, Serdaroglu-Oflazer P
Neurology 2011 Jan 18;76(3):227-35. doi: 10.1212/WNL.0b013e318207b043. PMID: 21242490
Autosomal recessive oculopharyngodistal myopathy: a distinct phenotypical, histological, and genetic entity.
van der Sluijs BM, ter Laak HJ, Scheffer H, van der Maarel SM, van Engelen BG
J Neurol Neurosurg Psychiatry 2004 Oct;75(10):1499-501. doi: 10.1136/jnnp.2003.025072. PMID: 15377709Free PMC Article

Clinical prediction guides

CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis.
Kume K, Kurashige T, Muguruma K, Morino H, Tada Y, Kikumoto M, Miyamoto T, Akutsu SN, Matsuda Y, Matsuura S, Nakamori M, Nishiyama A, Izumi R, Niihori T, Ogasawara M, Eura N, Kato T, Yokomura M, Nakayama Y, Ito H, Nakamura M, Saito K, Riku Y, Iwasaki Y, Maruyama H, Aoki Y, Nishino I, Izumi Y, Aoki M, Kawakami H
Am J Hum Genet 2023 Jul 6;110(7):1086-1097. Epub 2023 Jun 19 doi: 10.1016/j.ajhg.2023.05.014. PMID: 37339631Free PMC Article
Expanded clinical spectrum of oculopharyngodistal myopathy type 1.
Shimizu T, Ishiura H, Hara M, Shibata S, Unuma A, Kubota A, Sakuishi K, Inoue K, Goto J, Takahashi Y, Shirota Y, Hamada M, Shimizu J, Tsuji S, Toda T
Muscle Nerve 2022 Dec;66(6):679-685. Epub 2022 Sep 27 doi: 10.1002/mus.27717. PMID: 36052448
Clinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes.
Kumutpongpanich T, Ogasawara M, Ozaki A, Ishiura H, Tsuji S, Minami N, Hayashi S, Noguchi S, Iida A, Nishino I; OPDM_LRP12 Study Group, Mori-Yoshimura M, Oya Y, Ono K, Shimizu T, Kawata A, Shimohama S, Toyooka K, Endo K, Toru S, Sasaki O, Isahaya K, Takahashi MP, Iwasa K, Kira JI, Yamamoto T, Kawamoto M, Hamano T, Sugie K, Eura N, Shiota T, Koide M, Sekiya K, Kishi H, Hideyama T, Kawai S, Yanagimoto S, Sato H, Arahata H, Murayama S, Saito K, Hara H, Kanda T, Yaguchi H, Imai N, Kawagashira Y, Sanada M, Obara K, Kaido M, Furuta M, Kurashige T, Hara W, Kuzume D, Yamamoto M, Tsugawa J, Kishida H, Ishizuka N, Morimoto K, Tsuji Y, Tsuneyama A, Matsuno A, Sasaki R, Tamakoshi D, Abe E, Yamada S, Uzawa A
JAMA Neurol 2021 Jul 1;78(7):853-863. doi: 10.1001/jamaneurol.2021.1509. PMID: 34047774Free PMC Article
Oculopharyngodistal myopathy is a distinct entity: clinical and genetic features of 47 patients.
Durmus H, Laval SH, Deymeer F, Parman Y, Kiyan E, Gokyigiti M, Ertekin C, Ercan I, Solakoglu S, Karcagi V, Straub V, Bushby K, Lochmüller H, Serdaroglu-Oflazer P
Neurology 2011 Jan 18;76(3):227-35. doi: 10.1212/WNL.0b013e318207b043. PMID: 21242490
Oculopharyngodistal myopathy.
Satoyoshi E, Kinoshita M
Arch Neurol 1977 Feb;34(2):89-92. doi: 10.1001/archneur.1977.00500140043007. PMID: 836191

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