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Oculopharyngeal muscular dystrophy(OPMD)

MedGen UID:
75730
Concept ID:
C0270952
Disease or Syndrome
Synonyms: OPMD
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the 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
Sources: HPO, OMIM, 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 (HPO, OMIM, Orphanet)
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Oculopharyngeal muscular dystrophy (77097004); Oculopharyngeal dystrophy (77097004)
 
Gene (location): PABPN1 (14q11.2)
OMIM®: 164300
Orphanet: ORPHA270

Disease characteristics

Excerpted from the GeneReview: Oculopharyngeal Muscular Dystrophy
Oculopharyngeal muscular dystrophy (OPMD) is characterized by ptosis and swallowing difficulties due to selective involvement of the muscles of the eyelid and pharynx, respectively. The mean age of onset of ptosis is usually 48 years and onset of dysphagia is 50 years. Early symptoms of dysphagia are increased time needed to consume a meal and an acquired avoidance of dry foods. Swallowing difficulties determine prognosis, and increase the risk for potentially life-threatening aspiration pneumonia and poor nutrition. Other signs observed as the disease progresses are tongue weakness (82%), proximal lower-extremity weakness (71%), wet voice due to pooling of saliva (67%), limitation of upward gaze (61%), facial muscle weakness (43%), and proximal upper extremity weakness (38%). Involvement of the nervous system occurs on occasion. Severe OPMD, representing 5% to 10% of all OPMD, is characterized by onset of ptosis and dysphagia before age 45 years and incapacitating proximal leg weakness that starts before age 60 years. Some individuals with severe involvement eventually need a wheelchair. [from GeneReviews]
Authors:
Capucine Trollet  |  Teresa Gidaro  |  Pierre Klein, et. al.   view full author information

Additional description

From GHR
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://ghr.nlm.nih.gov/condition/oculopharyngeal-muscular-dystrophy

Clinical features

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
A symptom referring to difficulty in swallowing. It may be observed in patients with stroke, motor neuron disorders, cancer of the throat or mouth, head and neck injuries, Parkinson disease, and multiple sclerosis.
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
A symptom referring to difficulty in swallowing. It may be observed in patients with stroke, motor neuron disorders, cancer of the throat or mouth, head and neck injuries, Parkinson disease, and multiple sclerosis.
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Disorders of speech articulation caused by imperfect coordination of pharynx, larynx, tongue, or face muscles. This may result from CRANIAL NERVE DISEASES; NEUROMUSCULAR DISEASES; CEREBELLAR DISEASES; BASAL GANGLIA DISEASES; BRAIN STEM diseases; or diseases of the corticobulbar tracts (see PYRAMIDAL TRACTS). The cortical language centers are intact in this condition. (From Adams et al., Principles of Neurology, 6th ed, p489)
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.
Gait disturbance
MedGen UID:
107895
Concept ID:
C0575081
Finding
A finding referring to walking difficulties.
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.
Limb muscle weakness
MedGen UID:
107956
Concept ID:
C0587246
Finding
Reduced strength and weakness of the muscles of the arms and legs.
Ragged-red muscle fibers
MedGen UID:
477048
Concept ID:
C3275417
Finding
An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm.
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.
Mask-like facies
MedGen UID:
140860
Concept ID:
C0424448
Finding
A lack of facial expression often with staring eyes and a slightly open mouth.
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  
  • CROGVOculopharyngeal muscular dystrophy
Follow this link to review classifications for Oculopharyngeal muscular dystrophy in Orphanet.

Recent clinical studies

Etiology

Kalin-Hajdu E, Attas-Fox L, Huang X, Hardy I, Codère F
Ophthalmic Plast Reconstr Surg 2017 Jan/Feb;33(1):57-60. doi: 10.1097/IOP.0000000000000648. PMID: 26866330
van der Sluijs BM, Raz V, Lammens M, van den Heuvel LP, Voermans NC, van Engelen BG
J Neuromuscul Dis 2016 Mar 3;3(1):101-109. doi: 10.3233/JND-150118. PMID: 27854203
Youssof S
Muscle Nerve 2016 May;53(5):694-9. Epub 2016 Mar 1 doi: 10.1002/mus.24932. PMID: 26453481Free PMC Article
Garibaldi M, Pennisi EM, Bruttini M, Bizzarri V, Bucci E, Morino S, Talerico C, Stoppacciaro A, Renieri A, Antonini G
Neuromuscul Disord 2015 Nov;25(11):869-72. Epub 2015 Sep 7 doi: 10.1016/j.nmd.2015.08.011. PMID: 26494409
Youssof S, Schrader R, Bear D, Morrison L
Neuromuscul Disord 2015 Mar;25(3):238-46. Epub 2014 Nov 20 doi: 10.1016/j.nmd.2014.11.010. PMID: 25500011Free PMC Article

Diagnosis

Braverman I, Blumen SC, Newman H, Rizel L, Khayat M, Hanna R, St Guily JL, Tiosano B, Ben-Yosef T
Genet Test Mol Biomarkers 2017 Jul;21(7):450-453. Epub 2017 Jun 7 doi: 10.1089/gtmb.2016.0429. PMID: 28590779
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
Garibaldi M, Pennisi EM, Bruttini M, Bizzarri V, Bucci E, Morino S, Talerico C, Stoppacciaro A, Renieri A, Antonini G
Neuromuscul Disord 2015 Nov;25(11):869-72. Epub 2015 Sep 7 doi: 10.1016/j.nmd.2015.08.011. PMID: 26494409
Renard D, Ferraro A, Lorenzini MC, Jeanjean L, Portal MC, Llinares E, Labauge P, Castelnovo G
Muscle Nerve 2015 Oct;52(4):554-8. Epub 2015 Aug 26 doi: 10.1002/mus.24600. PMID: 25677583
Périé S, Trollet C, Mouly V, Vanneaux V, Mamchaoui K, Bouazza B, Marolleau JP, Laforêt P, Chapon F, Eymard B, Butler-Browne G, Larghero J, St Guily JL
Mol Ther 2014 Jan;22(1):219-25. Epub 2013 Jul 8 doi: 10.1038/mt.2013.155. PMID: 23831596Free PMC Article

Therapy

Youssof S, Schrader R, Bear D, Morrison L
Neuromuscul Disord 2015 Mar;25(3):238-46. Epub 2014 Nov 20 doi: 10.1016/j.nmd.2014.11.010. PMID: 25500011Free PMC Article
Youssof S, Schrader RM, Romero-Clark C, Roy G, Spafford M
Muscle Nerve 2014 Apr;49(4):601-3. Epub 2014 Feb 25 doi: 10.1002/mus.24123. PMID: 24259282Free PMC Article
Périé S, Trollet C, Mouly V, Vanneaux V, Mamchaoui K, Bouazza B, Marolleau JP, Laforêt P, Chapon F, Eymard B, Butler-Browne G, Larghero J, St Guily JL
Mol Ther 2014 Jan;22(1):219-25. Epub 2013 Jul 8 doi: 10.1038/mt.2013.155. PMID: 23831596Free PMC Article
Abu-Baker A, Laganiere J, Gaudet R, Rochefort D, Brais B, Neri C, Dion PA, Rouleau GA
Cell Death Dis 2013 Oct 3;4:e821. doi: 10.1038/cddis.2013.342. PMID: 24091664Free PMC Article
Davies JE, Rose C, Sarkar S, Rubinsztein DC
Sci Transl Med 2010 Jun 2;2(34):34ra40. doi: 10.1126/scitranslmed.3000723. PMID: 20519718

Prognosis

van der Sluijs BM, Knoop H, Bleijenberg G, van Engelen BG, Voermans NC
Neuromuscul Disord 2016 Mar;26(3):221-6. Epub 2016 Feb 13 doi: 10.1016/j.nmd.2015.12.009. PMID: 26948710
Youssof S, Schrader RM, Romero-Clark C, Roy G, Spafford M
Muscle Nerve 2014 Apr;49(4):601-3. Epub 2014 Feb 25 doi: 10.1002/mus.24123. PMID: 24259282Free PMC Article
Blumen SC, Bouchard JP, Brais B, Carasso RL, Paleacu D, Drory VE, Chantal S, Blumen N, Braverman I
Neurology 2009 Aug 25;73(8):596-601. doi: 10.1212/WNL.0b013e3181b388a3. PMID: 19704078
Krause-Bachand J, Koopman W
Can J Neurosci Nurs 2008;30(1):35-9. PMID: 18432080
Gürtler N, Plasilova M, Podvinec M, Boesch N, Müller H, Heinimann K
Laryngoscope 2006 Jan;116(1):111-4. doi: 10.1097/01.mlg.0000185602.86655.b5. PMID: 16481821

Clinical prediction guides

Youssof S, Romero-Clark C, Warner T, Plowman E
Muscle Nerve 2017 Jul;56(1):28-35. Epub 2017 Feb 12 doi: 10.1002/mus.25441. PMID: 27759888Free PMC Article
van der Sluijs BM, Raz V, Lammens M, van den Heuvel LP, Voermans NC, van Engelen BG
J Neuromuscul Dis 2016 Mar 3;3(1):101-109. doi: 10.3233/JND-150118. PMID: 27854203
Youssof S, Schrader RM, Romero-Clark C, Roy G, Spafford M
Muscle Nerve 2014 Apr;49(4):601-3. Epub 2014 Feb 25 doi: 10.1002/mus.24123. PMID: 24259282Free PMC Article
Périé S, Trollet C, Mouly V, Vanneaux V, Mamchaoui K, Bouazza B, Marolleau JP, Laforêt P, Chapon F, Eymard B, Butler-Browne G, Larghero J, St Guily JL
Mol Ther 2014 Jan;22(1):219-25. Epub 2013 Jul 8 doi: 10.1038/mt.2013.155. PMID: 23831596Free PMC Article
Abu-Baker A, Laganiere J, Gaudet R, Rochefort D, Brais B, Neri C, Dion PA, Rouleau GA
Cell Death Dis 2013 Oct 3;4:e821. doi: 10.1038/cddis.2013.342. PMID: 24091664Free PMC Article

Recent systematic reviews

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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