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Oculopharyngeal muscular dystrophy 2(OPMD2)

MedGen UID:
1841318
Concept ID:
C5830682
Disease or Syndrome
Synonym: OPMD2
 
Gene (location): HNRNPA2B1 (7p15.2)
 
Monarch Initiative: MONDO:0958195
OMIM®: 620460

Definition

Oculopharyngeal muscular dystrophy-2 (OPMD2) is an autosomal dominant muscle disorder characterized by early-onset ptosis, ophthalmoplegia, dysphagia, variable respiratory insufficiency, and proximal limb muscle weakness. Most patients have onset in the first years of life, although rare patients have onset in their teens. The disorder is slowly progressive and the severity is highly variable; the most severely affected individuals lose ambulation and may require tube-feeding or noninvasive ventilation (Kim et al., 2022). For a discussion of genetic heterogeneity of OPMD, see OPMD1 (164300). [from OMIM]

Clinical features

From HPO
Asthenia
MedGen UID:
2107
Concept ID:
C0004093
Sign or Symptom
A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body.
Ankle contracture
MedGen UID:
575402
Concept ID:
C0343148
Acquired Abnormality
Limb muscle weakness
MedGen UID:
107956
Concept ID:
C0587246
Finding
Reduced strength and weakness of the muscles of the arms and legs.
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Difficulty in swallowing.
Feeding difficulties
MedGen UID:
65429
Concept ID:
C0232466
Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Loss of ambulation
MedGen UID:
332305
Concept ID:
C1836843
Finding
Inability to walk in a person who previous had the ability to walk.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
Reduced strength of muscles.
Proximal muscle weakness
MedGen UID:
113169
Concept ID:
C0221629
Finding
A lack of strength of the proximal muscles.
Axial muscle weakness
MedGen UID:
334472
Concept ID:
C1843697
Finding
Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs).
Proximal muscle weakness in lower limbs
MedGen UID:
356423
Concept ID:
C1866010
Finding
A lack of strength of the proximal muscles of the legs.
Respiratory insufficiency
MedGen UID:
11197
Concept ID:
C0035229
Pathologic Function
Impairment of gas exchange within the lungs secondary to a disease process, neoplasm, or trauma, possibly resulting in hypoxia, hypercarbia, or both, but not requiring intubation or mechanical ventilation. Patients are normally managed with pharmaceutical therapy, supplemental oxygen, or both.
Dysphonia
MedGen UID:
282893
Concept ID:
C1527344
Mental or Behavioral Dysfunction
Difficulty in speaking due to a physical disorder of the mouth, tongue, throat, or vocal cords. Associated with a known physical or neurological cause.
Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Ophthalmoplegia
MedGen UID:
45205
Concept ID:
C0029089
Sign or Symptom
Paralysis of one or more extraocular muscles that are responsible for eye movements.

Professional guidelines

PubMed

Witting N, Daugaard D, Prytz S, Biernat H, Diederichsen LP, Vissing J
J Neurol 2022 Aug;269(8):4154-4160. Epub 2022 Mar 4 doi: 10.1007/s00415-022-11028-8. PMID: 35244767
Vittonatto E, Boschi S, CHIADò-Piat L, Ponzalino V, Bortolani S, Brusa C, Rainero I, Ricci F, Vercelli L, Mongini T
Acta Myol 2017 Dec;36(4):191-198. Epub 2017 Dec 1 PMID: 29770361Free PMC Article
Abu-Baker A, Rouleau GA
Biochim Biophys Acta 2007 Feb;1772(2):173-85. Epub 2006 Oct 11 doi: 10.1016/j.bbadis.2006.10.003. PMID: 17110089

Recent clinical studies

Etiology

Brisson JD, Brais B, Mathieu J, Lessard I, Gagné-Ouellet V, Côté I, Gagnon C
Muscle Nerve 2023 Nov;68(6):841-849. Epub 2023 Oct 17 doi: 10.1002/mus.27984. PMID: 37849345
Middelink M, Voermans NC, van Engelen BGM, Janssen MCH, Groothuis JT, Knuijt S, Zweers-van Essen H
J Neuromuscul Dis 2023;10(5):777-785. doi: 10.3233/JND-230014. PMID: 37483025Free PMC Article
Keene KR, de Nie JM, Brink MJ, Notting IC, Verschuuren JJGM, Kan HE, Beenakker JM, Tannemaat MR
J Neurol Neurosurg Psychiatry 2023 Feb;94(2):151. Epub 2022 Oct 19 doi: 10.1136/jnnp-2022-329859. PMID: 36261286
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
de Swart BJ, van der Sluijs BM, Vos AM, Kalf JG, Knuijt S, Cruysberg JR, van Engelen BG
J Neurol Neurosurg Psychiatry 2006 Feb;77(2):266-8. doi: 10.1136/jnnp.2005.062521. PMID: 16421137Free PMC Article

Diagnosis

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
Elia F, Covella M, Perna M, Aprà F, Crupi V
Intern Emerg Med 2018 Mar;13(2):213-217. Epub 2017 Aug 16 doi: 10.1007/s11739-017-1739-0. PMID: 28815453
Witting N, Mensah A, Køber L, Bundgaard H, Petri H, Duno M, Milea D, Vissing J
Acta Neurol Scand 2014 Aug;130(2):125-30. Epub 2014 Mar 10 doi: 10.1111/ane.12244. PMID: 24611576
Wicklund MP
Continuum (Minneap Minn) 2013 Dec;19(6 Muscle Disease):1535-70. doi: 10.1212/01.CON.0000440659.41675.8b. PMID: 24305447Free PMC Article
de Swart BJ, van der Sluijs BM, Vos AM, Kalf JG, Knuijt S, Cruysberg JR, van Engelen BG
J Neurol Neurosurg Psychiatry 2006 Feb;77(2):266-8. doi: 10.1136/jnnp.2005.062521. PMID: 16421137Free PMC Article

Therapy

Brisson JD, Brais B, Mathieu J, Lessard I, Gagné-Ouellet V, Côté I, Gagnon C
Muscle Nerve 2023 Nov;68(6):841-849. Epub 2023 Oct 17 doi: 10.1002/mus.27984. PMID: 37849345
Middelink M, Voermans NC, van Engelen BGM, Janssen MCH, Groothuis JT, Knuijt S, Zweers-van Essen H
J Neuromuscul Dis 2023;10(5):777-785. doi: 10.3233/JND-230014. PMID: 37483025Free PMC Article
Lin TY, Chen AD, Chang CH, Liang WC, Minami N, Nishino I, Lai CS
Ann Plast Surg 2020 Jan;84(1S Suppl 1):S84-S88. doi: 10.1097/SAP.0000000000002198. PMID: 31833892
Mouly V, Aamiri A, Périé S, Mamchaoui K, Barani A, Bigot A, Bouazza B, François V, Furling D, Jacquemin V, Negroni E, Riederer I, Vignaud A, St Guily JL, Butler-Browne GS
Acta Myol 2005 Oct;24(2):128-33. PMID: 16550930
Hill M, Hughes T, Milford C
Cochrane Database Syst Rev 2004;(2):CD004303. doi: 10.1002/14651858.CD004303.pub2. PMID: 15106246

Prognosis

Mencias M, Levene M, Blighe K, Bax BE, On Behalf Of The Project Group
Int J Mol Sci 2021 Apr 1;22(7) doi: 10.3390/ijms22073681. PMID: 33916195Free PMC Article
Brisson JD, Gagnon C, Brais B, Côté I, Mathieu J
Muscle Nerve 2020 Aug;62(2):201-207. Epub 2020 May 22 doi: 10.1002/mus.26888. PMID: 32270505
Halter JP, Michael W, Schüpbach M, Mandel H, Casali C, Orchard K, Collin M, Valcarcel D, Rovelli A, Filosto M, Dotti MT, Marotta G, Pintos G, Barba P, Accarino A, Ferra C, Illa I, Beguin Y, Bakker JA, Boelens JJ, de Coo IF, Fay K, Sue CM, Nachbaur D, Zoller H, Sobreira C, Pinto Simoes B, Hammans SR, Savage D, Martí R, Chinnery PF, Elhasid R, Gratwohl A, Hirano M
Brain 2015 Oct;138(Pt 10):2847-58. Epub 2015 Aug 10 doi: 10.1093/brain/awv226. PMID: 26264513Free PMC Article
Yamazaki T, Murayama K, Compton AG, Sugiana C, Harashima H, Amemiya S, Ajima M, Tsuruoka T, Fujinami A, Kawachi E, Kurashige Y, Matsushita K, Wakiguchi H, Mori M, Iwasa H, Okazaki Y, Thorburn DR, Ohtake A
Pediatr Int 2014 Apr;56(2):180-7. Epub 2014 Mar 6 doi: 10.1111/ped.12249. PMID: 24266892
Brais B, Rouleau GA, Bouchard JP, Fardeau M, Tomé FM
Semin Neurol 1999;19(1):59-66. doi: 10.1055/s-2008-1040826. PMID: 10711989

Clinical prediction guides

Bensalah M, Muraine L, Boulinguiez A, Giordani L, Albert V, Ythier V, Dhiab J, Oliver A, Hanique V, Gidaro T, Perié S, Lacau St-Guily J, Corneau A, Butler-Browne G, Bigot A, Mouly V, Negroni E, Trollet C
J Cachexia Sarcopenia Muscle 2022 Jun;13(3):1771-1784. Epub 2022 Mar 22 doi: 10.1002/jcsm.12974. PMID: 35319169Free PMC Article
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
Mencias M, Levene M, Blighe K, Bax BE, On Behalf Of The Project Group
Int J Mol Sci 2021 Apr 1;22(7) doi: 10.3390/ijms22073681. PMID: 33916195Free PMC Article
Waito AA, Steele CM, Peladeau-Pigeon M, Genge A, Argov Z
Dysphagia 2018 Dec;33(6):789-802. Epub 2018 May 3 doi: 10.1007/s00455-018-9904-9. PMID: 29725764
de Swart BJ, van der Sluijs BM, Vos AM, Kalf JG, Knuijt S, Cruysberg JR, van Engelen BG
J Neurol Neurosurg Psychiatry 2006 Feb;77(2):266-8. doi: 10.1136/jnnp.2005.062521. PMID: 16421137Free PMC Article

Recent systematic reviews

Middelink M, Voermans NC, van Engelen BGM, Janssen MCH, Groothuis JT, Knuijt S, Zweers-van Essen H
J Neuromuscul Dis 2023;10(5):777-785. doi: 10.3233/JND-230014. PMID: 37483025Free PMC Article
Knuijt S, Cup EH, Pieterse AJ, de Swart BJ, van der Wilt GJ, van Engelen BG, Oostendorp RA, Hendricks HT
Folia Phoniatr Logop 2011;63(1):15-20. Epub 2010 Aug 5 doi: 10.1159/000319731. PMID: 20689305
Hill M, Hughes T, Milford C
Cochrane Database Syst Rev 2004;(2):CD004303. doi: 10.1002/14651858.CD004303.pub2. PMID: 15106246

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