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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
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
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 first symptom in people with this disorder is usually droopy eyelids (ptosis), followed by difficulty swallowing (dysphagia). The swallowing difficulties begin with food, but as the condition progresses, liquids can be difficult to swallow as well. Many people with this condition have weakness and wasting (atrophy) of the tongue. These problems with food intake may cause malnutrition. Some affected individuals also have weakness in other facial muscles.Individuals with oculopharyngeal muscular dystrophy frequently have weakness in the muscles near the center of the body (proximal muscles), particularly muscles in the upper legs and hips. The weakness progresses slowly over time, and people may need the aid of a cane or a walker. Rarely, affected individuals need wheelchair assistance.There are two types of oculopharyngeal muscular dystrophy, which are distinguished by their pattern of inheritance. They are known as the autosomal dominant and autosomal recessive types.  https://ghr.nlm.nih.gov/condition/oculopharyngeal-muscular-dystrophy

Clinical features

Ptosis of eyelid
MedGen UID:
2287
Concept ID:
C0005745
Anatomical Abnormality
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).
Ophthalmoparesis
MedGen UID:
155551
Concept ID:
C0751401
Sign or Symptom
Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement.
Progressive ptosis
MedGen UID:
320251
Concept ID:
C1834015
Finding
A progressive form of ptosis.
Weakness of limb
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
If you have a swallowing disorder, you may have difficulty or pain when swallowing. Some people cannot swallow at all. Others may have trouble swallowing liquids, foods, or saliva. This makes it hard to eat. Often, it can be difficult to take in enough calories and fluids to nourish your body. Anyone can have a swallowing disorder, but it is more likely in the elderly. It often happens because of other conditions, including. - Nervous system disorders, such as Parkinson's disease and cerebral palsy. - Problems with your esophagus, including GERD (gastroesophageal reflux disease). - Stroke. - Head or spinal cord injury. - Cancer of the head, neck, or esophagus. Medicines can help some people, while others may need surgery. Swallowing treatment with a speech-language pathologist can help. You may find it helpful to change your diet or hold your head or neck in a certain way when you eat. In very serious cases, people may need feeding tubes. NIH: National Institute on Deafness and Other Communication Disorders.
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.
Bell palsy
MedGen UID:
87660
Concept ID:
C0376175
Disease or Syndrome
Bell's palsy is the most common cause of facial paralysis. It usually affects just one side of the face. Symptoms appear suddenly and are at their worst about 48 hours after they start. They can range from mild to severe and include. -Twitching. -Weakness. -Paralysis. -Drooping eyelid or corner of mouth. -Drooling. -Dry eye or mouth. -Excessive tearing in the eye. -Impaired ability to taste. Scientists think that a viral infection makes the facial nerve swell or become inflamed. You are most likely to get Bell's palsy if you are pregnant, diabetic or sick with a cold or flu. Three out of four patients improve without treatment. With or without treatment, most people begin to get better within 2 weeks and recover completely within 3 to 6 months. . NIH: National Institute of Neurological Disorders and Stroke.
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.
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
If you have a swallowing disorder, you may have difficulty or pain when swallowing. Some people cannot swallow at all. Others may have trouble swallowing liquids, foods, or saliva. This makes it hard to eat. Often, it can be difficult to take in enough calories and fluids to nourish your body. Anyone can have a swallowing disorder, but it is more likely in the elderly. It often happens because of other conditions, including. - Nervous system disorders, such as Parkinson's disease and cerebral palsy. - Problems with your esophagus, including GERD (gastroesophageal reflux disease). - Stroke. - Head or spinal cord injury. - Cancer of the head, neck, or esophagus. Medicines can help some people, while others may need surgery. Swallowing treatment with a speech-language pathologist can help. You may find it helpful to change your diet or hold your head or neck in a certain way when you eat. In very serious cases, people may need feeding tubes. NIH: National Institute on Deafness and Other Communication Disorders.
Myopathy
MedGen UID:
10135
Concept ID:
C0026848
Disease or Syndrome
Your muscles help you move and help your body work. Different types of muscles have different jobs. There are many problems that can affect muscles. Muscle disorders can cause weakness, pain or even paralysis. . Causes of muscle disorders include. -Injury or overuse, such as sprains or strains, cramps or tendinitis . -A genetic disorder, such as muscular dystrophy. -Some cancers. -Inflammation, such as myositis. -Diseases of nerves that affect muscles. -Infections. -Certain medicines. Sometimes the cause is not known.
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.
Denervation atrophy of muscle
MedGen UID:
78748
Concept ID:
C0270948
Pathologic Function
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Bell palsy
MedGen UID:
87660
Concept ID:
C0376175
Disease or Syndrome
Bell's palsy is the most common cause of facial paralysis. It usually affects just one side of the face. Symptoms appear suddenly and are at their worst about 48 hours after they start. They can range from mild to severe and include. -Twitching. -Weakness. -Paralysis. -Drooping eyelid or corner of mouth. -Drooling. -Dry eye or mouth. -Excessive tearing in the eye. -Impaired ability to taste. Scientists think that a viral infection makes the facial nerve swell or become inflamed. You are most likely to get Bell's palsy if you are pregnant, diabetic or sick with a cold or flu. Three out of four patients improve without treatment. With or without treatment, most people begin to get better within 2 weeks and recover completely within 3 to 6 months. . NIH: National Institute of Neurological Disorders and Stroke.
Distal muscle weakness
MedGen UID:
140883
Concept ID:
C0427065
Finding
Reduced strength of the musculature of the distal extremities.
Weakness of limb
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.
Bell palsy
MedGen UID:
87660
Concept ID:
C0376175
Disease or Syndrome
Bell's palsy is the most common cause of facial paralysis. It usually affects just one side of the face. Symptoms appear suddenly and are at their worst about 48 hours after they start. They can range from mild to severe and include. -Twitching. -Weakness. -Paralysis. -Drooping eyelid or corner of mouth. -Drooling. -Dry eye or mouth. -Excessive tearing in the eye. -Impaired ability to taste. Scientists think that a viral infection makes the facial nerve swell or become inflamed. You are most likely to get Bell's palsy if you are pregnant, diabetic or sick with a cold or flu. Three out of four patients improve without treatment. With or without treatment, most people begin to get better within 2 weeks and recover completely within 3 to 6 months. . NIH: National Institute of Neurological Disorders and Stroke.
Mask-like facies
MedGen UID:
140860
Concept ID:
C0424448
Finding
A lack of facial expression often with staring eyes and a slightly open mouth.
Abnormality of the pharynx
MedGen UID:
871345
Concept ID:
C4025838
Anatomical Abnormality
An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly.

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

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. [Epub ahead of print] 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. [Epub ahead of print] PMID: 25500011Free PMC Article
Shan J, Chen B, Lin P, Li D, Luo Y, Ji K, Zheng J, Yuan Y, Yan C
Neuromolecular Med 2014 Dec;16(4):782-6. Epub 2014 Oct 5 doi: 10.1007/s12017-014-8327-5. [Epub ahead of print] PMID: 25283883
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. [Epub ahead of print] PMID: 24259282
Raz V, Sterrenburg E, Routledge S, Venema A, van der Sluijs BM, Trollet C, Dickson G, van Engelen BG, van der Maarel SM, Antoniou MN
BMC Neurol 2013 Jul 1;13:70. doi: 10.1186/1471-2377-13-70. [Epub ahead of print] PMID: 23815790Free PMC Article

Diagnosis

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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] PMID: 23831596Free PMC Article
Blumen SC, Kesler A, Dabby R, Shalev S, Khayat M, Almog Y, Zoldan J, Benninger F, Drory VE, Gurevich M, Sadeh M, Brais B, Braverman I
Isr Med Assoc J 2013 Dec;15(12):748-52. PMID: 24449978
Luk HM, Lo IF, Fu KH, Lui CH, Tong TM, Chan DH, Lam ST
Hong Kong Med J 2013 Dec;19(6):556-9. PMID: 24310666

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. [Epub ahead of print] 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. [Epub ahead of print] PMID: 24259282
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. [Epub ahead of print] 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

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. [Epub ahead of print] PMID: 24259282
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
Van Der Sluijs BM, Hoefsloot LH, Padberg GW, Van Der Maarel SM, Van Engelen BG
J Neurol 2003 Nov;250(11):1307-12. doi: 10.1007/s00415-003-0201-6. PMID: 14648146

Clinical prediction guides

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. [Epub ahead of print] PMID: 24259282
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. [Epub ahead of print] 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
Tondo M, Gámez J, Gutiérrez-Rivas E, Medel-Jiménez R, Martorell L
J Neurol 2012 Aug;259(8):1546-52. Epub 2012 Jan 10 doi: 10.1007/s00415-011-6374-5. [Epub ahead of print] PMID: 22231868
Manjaly JG, Vaughan-Shaw PG, Dale OT, Tyler S, Corlett JC, Frost RA
Dysphagia 2012 Jun;27(2):216-20. Epub 2011 Jul 30 doi: 10.1007/s00455-011-9356-y. [Epub ahead of print] PMID: 21805106

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. [Epub ahead of print] 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. [Epub ahead of print] 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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