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Oculopharyngeal myopathy with leukoencephalopathy 1(OPML1)

MedGen UID:
1684701
Concept ID:
C5231436
Disease or Syndrome
Synonyms: OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1
 
Gene (location): NUTM2B-AS1 (10q22.3)
 
Monarch Initiative: MONDO:0032843
OMIM®: 618637

Clinical features

From HPO
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Difficulty in swallowing.
Gastrointestinal dysmotility
MedGen UID:
324638
Concept ID:
C1836923
Finding
Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
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.
Tremor
MedGen UID:
21635
Concept ID:
C0040822
Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Cerebral atrophy
MedGen UID:
116012
Concept ID:
C0235946
Disease or Syndrome
Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
Proximal muscle weakness
MedGen UID:
113169
Concept ID:
C0221629
Finding
A lack of strength of the proximal muscles.
Weakness of facial musculature
MedGen UID:
98103
Concept ID:
C0427055
Disease or Syndrome
Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve).
Distal muscle weakness
MedGen UID:
140883
Concept ID:
C0427065
Finding
Reduced strength of the musculature of the distal extremities.
Respiratory failure
MedGen UID:
257837
Concept ID:
C1145670
Disease or Syndrome
A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.
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).
External ophthalmoplegia
MedGen UID:
57662
Concept ID:
C0162292
Disease or Syndrome
Paralysis of the external ocular muscles.

Recent clinical studies

Etiology

Selim L, Van Coster R, Mehaney D, Hassan F, Vanlander A, Smet J, De Latter E, Vandemeulebroecke K, Mohamed Abdou D, Nakhla G, Mostafa M, Habets D, Bakker J, Abdel Bary A
Genet Couns 2016;27(2):193-205. PMID: 29485812
Bax BE, Bain MD, Scarpelli M, Filosto M, Tonin P, Moran N
Neurology 2013 Oct 1;81(14):1269-71. Epub 2013 Aug 21 doi: 10.1212/WNL.0b013e3182a6cb4b. PMID: 23966250Free PMC Article
Cloots K, Verbeek J, Orlent H, Meersseman W, Cassiman D
Eur J Gastroenterol Hepatol 2013 Aug;25(8):892-8. doi: 10.1097/MEG.0b013e32835ee629. PMID: 23426270

Diagnosis

Khan ZR, Karam A, Ul Haq MA, Aman A, Karam AS
J Med Case Rep 2022 Oct 3;16(1):363. doi: 10.1186/s13256-022-03582-6. PMID: 36192783Free PMC Article
Erdogan MA, Seckin Y, Harputluoglu MM, Karincaoglu M, Aladag M, Caliskan AR, Bilgic Y, Yildirim O, Cagin YF, Atayan Y, Cengiz AN, Emul C, Esener Z, Erbay MF, Tekedereli I
Clin Dysmorphol 2019 Jan;28(1):22-25. doi: 10.1097/MCD.0000000000000250. PMID: 30407211
Yasuda K, Murase N, Yoshinaga K, Ohtani R, Goto YI, Takahashi R, Nakamura M
J Clin Neurosci 2019 Mar;61:302-304. Epub 2018 Oct 29 doi: 10.1016/j.jocn.2018.10.054. PMID: 30385167
Wang HF, Wang J, Wang YL, Fan JJ, Mo GL, Gong FY, Chai ZM, Zhang J, Meng HX, Li CX, Guo JH, Pu CQ
Acta Neurol Belg 2017 Mar;117(1):259-267. Epub 2016 Oct 5 doi: 10.1007/s13760-016-0701-7. PMID: 27709505
Cloots K, Verbeek J, Orlent H, Meersseman W, Cassiman D
Eur J Gastroenterol Hepatol 2013 Aug;25(8):892-8. doi: 10.1097/MEG.0b013e32835ee629. PMID: 23426270

Therapy

Bax BE, Bain MD, Scarpelli M, Filosto M, Tonin P, Moran N
Neurology 2013 Oct 1;81(14):1269-71. Epub 2013 Aug 21 doi: 10.1212/WNL.0b013e3182a6cb4b. PMID: 23966250Free PMC Article

Prognosis

Wang HF, Wang J, Wang YL, Fan JJ, Mo GL, Gong FY, Chai ZM, Zhang J, Meng HX, Li CX, Guo JH, Pu CQ
Acta Neurol Belg 2017 Mar;117(1):259-267. Epub 2016 Oct 5 doi: 10.1007/s13760-016-0701-7. PMID: 27709505
Cloots K, Verbeek J, Orlent H, Meersseman W, Cassiman D
Eur J Gastroenterol Hepatol 2013 Aug;25(8):892-8. doi: 10.1097/MEG.0b013e32835ee629. PMID: 23426270

Clinical prediction guides

Wang HF, Wang J, Wang YL, Fan JJ, Mo GL, Gong FY, Chai ZM, Zhang J, Meng HX, Li CX, Guo JH, Pu CQ
Acta Neurol Belg 2017 Mar;117(1):259-267. Epub 2016 Oct 5 doi: 10.1007/s13760-016-0701-7. PMID: 27709505
Cloots K, Verbeek J, Orlent H, Meersseman W, Cassiman D
Eur J Gastroenterol Hepatol 2013 Aug;25(8):892-8. doi: 10.1097/MEG.0b013e32835ee629. PMID: 23426270

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