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Oculopharyngeal muscular dystrophy(OPMD1)

MedGen UID:
75730
Concept ID:
C0270952
Disease or Syndrome
Synonyms: Dystrophies, Oculopharyngeal Muscular; Dystrophy, Oculopharyngeal Muscular; Muscular Dystrophies, Oculopharyngeal; Muscular Dystrophy, Oculopharyngeal; Oculopharyngeal Dystrophy; Oculopharyngeal Muscular Dystrophies; Oculopharyngeal Muscular Dystrophy; Progressive Muscular Dystrophy, Oculopharyngeal Type
SNOMED CT: Oculopharyngeal muscular dystrophy (77097004); Oculopharyngeal dystrophy (77097004)
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.
 
Related genes: PABPN1, HNRNPA2B1
 
Monarch Initiative: MONDO:0008116
OMIM®: 164300; 602279
OMIM® Phenotypic series: PS164300
Orphanet: ORPHA270

Disease characteristics

Excerpted from the GeneReview: Oculopharyngeal Muscular Dystrophy
Oculopharyngeal muscular dystrophy (OPMD) is characterized by ptosis and dysphagia due to selective involvement of the muscles of the eyelids and pharynx, respectively. For the vast majority of individuals with typical OPMD, the mean age of onset of ptosis is usually 48 years and of dysphagia 50 years; in 5%-10% of individuals with severe OPMD, onset of ptosis and dysphagia occur before age 45 years and is associated with lower limb girdle weakness starting around age 60 years. Swallowing difficulties, which determine prognosis, increase the risk for potentially life-threatening aspiration pneumonia and poor nutrition. Other manifestations as the disease progresses can include limitation of upward gaze, tongue atrophy and weakness, chewing difficulties, wet voice, facial muscle weakness, axial muscle weakness, and proximal limb girdle weakness predominantly in lower limbs. Some individuals with severe involvement will eventually need a wheelchair. Neuropsychological tests have shown altered scores in executive functions in some. [from GeneReviews]
Authors:
Capucine Trollet  |  Alexis Boulinguiez  |  Fanny Roth, et. al.   view full author information

Additional description

From MedlinePlus Genetics
Oculopharyngeal muscular dystrophy is a genetic condition characterized by muscle weakness that begins in adulthood, typically after age 40. The term "oculopharyngeal" refers to the eyes (oculo-) and a part of the throat called the pharynx (-pharyngeal). Affected individuals usually first experience weakness of the muscles in both eyelids that causes droopy eyelids (ptosis). Ptosis can worsen over time, causing the eyelid to impair vision, and in some cases, limit eye movement. Along with ptosis, affected individuals develop weakness of the throat muscles that causes difficulty swallowing (dysphagia). Dysphagia begins with dry food, but over time, liquids can also become difficult to swallow. Dysphagia can cause saliva to accumulate and a wet-sounding voice. Many people with oculopharyngeal muscular dystrophy also have weakness and wasting (atrophy) of the tongue. These problems with food intake may cause malnutrition, choking, or a bacterial lung infection called aspiration pneumonia.

Individuals with oculopharyngeal muscular dystrophy frequently have weakness in the muscles near the center of the body (proximal muscles), particularly muscles in the shoulders, upper legs, and hips (limb-girdle muscles). The weakness slowly gets worse, and people may need the aid of a cane or a walker. Rarely, affected individuals need wheelchair assistance.

Rarely, individuals have a severe form of oculopharyngeal muscular dystrophy with muscle weakness that begins before age 45, and have trouble walking independently by age 60. These individuals often also have disturbances in nerve function (neuropathy), a gradual loss of intellectual functioning (cognitive decline), and psychiatric symptoms such as depression or strongly held false beliefs (delusions).  https://medlineplus.gov/genetics/condition/oculopharyngeal-muscular-dystrophy

Clinical features

From HPO
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.
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Gait disturbance
MedGen UID:
107895
Concept ID:
C0575081
Finding
The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.
Proximal muscle weakness
MedGen UID:
113169
Concept ID:
C0221629
Finding
A lack of strength of the proximal muscles.
Neck muscle weakness
MedGen UID:
66808
Concept ID:
C0240479
Finding
Decreased strength of the neck musculature.
Facial palsy
MedGen UID:
87660
Concept ID:
C0376175
Disease or Syndrome
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.
Distal muscle weakness
MedGen UID:
140883
Concept ID:
C0427065
Finding
Reduced strength of the musculature of the distal extremities.
Elevated circulating creatine kinase concentration
MedGen UID:
69128
Concept ID:
C0241005
Finding
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
Hypernasal speech
MedGen UID:
107884
Concept ID:
C0566620
Finding
A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages.
Mask-like facies
MedGen UID:
140860
Concept ID:
C0424448
Finding
A lack of facial expression often with staring eyes and a slightly open mouth.
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).
Progressive ptosis
MedGen UID:
320251
Concept ID:
C1834015
Disease or Syndrome
A progressive form of ptosis.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Oculopharyngeal muscular dystrophy in Orphanet.

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
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
Richard P, Trollet C, Stojkovic T, de Becdelievre A, Perie S, Pouget J, Eymard B; Neurologists of French Neuromuscular Reference Centers CORNEMUS and FILNEMUS
Neurology 2017 Jan 24;88(4):359-365. Epub 2016 Dec 23 doi: 10.1212/WNL.0000000000003554. PMID: 28011929Free PMC Article

Recent clinical studies

Etiology

D'Ambrosio ES, Chuang K, David WS, Amato AA, Gonzalez-Perez P
Muscle Nerve 2023 Aug;68(2):142-148. Epub 2023 Mar 27 doi: 10.1002/mus.27801. PMID: 36790141
Kim HJ, Mohassel P, Donkervoort S, Guo L, O'Donovan K, Coughlin M, Lornage X, Foulds N, Hammans SR, Foley AR, Fare CM, Ford AF, Ogasawara M, Sato A, Iida A, Munot P, Ambegaonkar G, Phadke R, O'Donovan DG, Buchert R, Grimmel M, Töpf A, Zaharieva IT, Brady L, Hu Y, Lloyd TE, Klein A, Steinlin M, Kuster A, Mercier S, Marcorelles P, Péréon Y, Fleurence E, Manzur A, Ennis S, Upstill-Goddard R, Bello L, Bertolin C, Pegoraro E, Salviati L, French CE, Shatillo A, Raymond FL, Haack TB, Quijano-Roy S, Böhm J, Nelson I, Stojkovic T, Evangelista T, Straub V, Romero NB, Laporte J, Muntoni F, Nishino I, Tarnopolsky MA, Shorter J, Bönnemann CG, Taylor JP
Nat Commun 2022 Apr 28;13(1):2306. doi: 10.1038/s41467-022-30015-1. PMID: 35484142Free PMC Article
Jordan DR, Klapper SR, Farmer J
Ophthalmic Plast Reconstr Surg 2022 Nov-Dec 01;38(6):535-542. Epub 2022 Jan 13 doi: 10.1097/IOP.0000000000002118. PMID: 35030153
Kroon RHMJM, Horlings CGC, de Swart BJM, van Engelen BGM, Kalf JG
J Neuromuscul Dis 2020;7(4):483-494. doi: 10.3233/JAD-200511. PMID: 32804098Free PMC Article
Pénisson-Besnier I
Rev Neurol (Paris) 2013 Aug-Sep;169(8-9):534-45. Epub 2013 Sep 3 doi: 10.1016/j.neurol.2012.09.021. PMID: 24008050

Diagnosis

Smith IC, Chakraborty S, Bourque PR, Sampaio ML, Melkus G, Lochmüller H, Woulfe J, Parks RJ, Brais B, Warman-Chardon J
Neuromuscul Disord 2023 Nov;33(11):824-834. Epub 2023 Oct 6 doi: 10.1016/j.nmd.2023.09.010. PMID: 37926637
Al-Lahham T, Lacomis D
J Clin Neuromuscul Dis 2022 Sep 1;24(1):38-48. doi: 10.1097/CND.0000000000000428. PMID: 36005472
Pénisson-Besnier I
Rev Neurol (Paris) 2013 Aug-Sep;169(8-9):534-45. Epub 2013 Sep 3 doi: 10.1016/j.neurol.2012.09.021. PMID: 24008050
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
Kerrison JB, Maumenee IH
Curr Opin Ophthalmol 1997 Dec;8(6):35-40. doi: 10.1097/00055735-199712000-00006. PMID: 10176101

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
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
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
Alonso-Jimenez A, Kroon RHMJM, Alejaldre-Monforte A, Nuñez-Peralta C, Horlings CGC, van Engelen BGM, Olivé M, González L, Verges-Gil E, Paradas C, Márquez C, Garibaldi M, Gallano P, Rodriguez MJ, Gonzalez-Quereda L, Dominguez Gonzalez C, Vissing J, Fornander F, Eisum AV, García-Sobrino T, Pardo J, García-Figueiras R, Muelas N, Vilchez JJ, Kapetanovic S, Tasca G, Monforte M, Ricci E, Gomez MT, Bevilacqua JA, Diaz-Jara J, Zamorano II, Carlier RY, Laforet P, Pelayo-Negro A, Ramos-Fransi A, Martínez A, Marini-Bettolo C, Straub V, Gutiérrez G, Stojkovic T, Martín MA, Morís G, Fernández-Torrón R, Lopez De Munaín A, Cortes-Vicente E, Querol L, Rojas-García R, Illa I, Diaz-Manera J
J Neurol Neurosurg Psychiatry 2019 May;90(5):576-585. Epub 2018 Dec 8 doi: 10.1136/jnnp-2018-319578. PMID: 30530568
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

Prognosis

Smith IC, Chakraborty S, Bourque PR, Sampaio ML, Melkus G, Lochmüller H, Woulfe J, Parks RJ, Brais B, Warman-Chardon J
Neuromuscul Disord 2023 Nov;33(11):824-834. Epub 2023 Oct 6 doi: 10.1016/j.nmd.2023.09.010. PMID: 37926637
Park RB, Akella SS, Aakalu VK
Orbit 2023 Feb;42(1):11-24. Epub 2022 Sep 30 doi: 10.1080/01676830.2022.2122514. PMID: 36178005Free PMC Article
Kroon RHMJM, Horlings CGC, de Swart BJM, van Engelen BGM, Kalf JG
J Neuromuscul Dis 2020;7(4):483-494. doi: 10.3233/JAD-200511. PMID: 32804098Free 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
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

D'Ambrosio ES, Chuang K, David WS, Amato AA, Gonzalez-Perez P
Muscle Nerve 2023 Aug;68(2):142-148. Epub 2023 Mar 27 doi: 10.1002/mus.27801. PMID: 36790141
Tankink M, Horlings CGC, Voermans N, van der Sluijs B, Kessels RPC, van Engelen B, Raaphorst J
J Neuromuscul Dis 2022;9(1):129-135. doi: 10.3233/JND-200592. PMID: 34334411Free PMC Article
Forgues C, Fortin J, Gagnon C, Brisson JD, Mathieu J, Brais B, Côté C
Can J Diet Pract Res 2021 Jun 1;82(2):95-97. Epub 2021 Apr 20 doi: 10.3148/cjdpr-2021-003. PMID: 33876991
Ram S
Neurol India 2017 Sep-Oct;65(5):993-1000. doi: 10.4103/neuroindia.NI_1241_16. PMID: 28879884
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

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
Mørk EL, Kristensen ML, Stokholm JB, Söderström CM, Madsen MV, Gätke MR
Eur J Anaesthesiol 2019 Jul;36(7):477-485. doi: 10.1097/EJA.0000000000000991. PMID: 30950905
Adams V, Mathisen B, Baines S, Lazarus C, Callister R
Dysphagia 2013 Sep;28(3):350-69. Epub 2013 Mar 7 doi: 10.1007/s00455-013-9451-3. PMID: 23468283
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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