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Cognitive impairment and reduced life span of oculopharyngeal muscular dystrophy homozygotes
Abstract
Objective To assess the evolution and life expectancy in patients with oculopharyngeal muscular dystrophy (OPMD) who are homozygotes for two (GCN)13 expansions in the PABPN1 encoding gene. Background OPMD is particularly frequent among French Canadians (FCs) and Uzbek Jews (UJs), who carry a same size, (GCN)13, PABPN1 mutation. The high rate of consanguinity among UJs together with late disease onset and normal fertility results in homozygous cases. Methods For 15 to 20 years, we followed 4 FC and 6 UJ homozygotes with OPMD and compared them with their heterozygous parents and siblings. In addition to clinical evaluation, electrodiagnostic tests, psychological tests, and brain imaging studies were performed. Results In all (GCN)13-(GCN)13 patients, OPMD started before age 35 years, with bilateral ptosis and dysphagia; external ophthalmoparesis and dysphonia followed within a few years, as well as weakness in proximal limb muscles. All patients had recurrent aspirations and lost weight; 4 patients required surgical interventions to alleviate dysphagia, and 5 required feeding gastrostomies. Most patients were followed by psychiatrists due to cognitive decline, recurrent depression, or psychotic episodes. Six patients died at ages 50, 51, 53, 56, 56, and 57 years. The eldest patient is now 51 years old; she is cachectic and requires special diet and psychiatric care for paranoid psychosis and uninhibited behavior. Conclusions Oculopharyngeal muscular dystrophy progresses faster…
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Average quality of life and mood are adversely affected by MD.
“Given this demanding context it is unsurprising that average quality of life (QoL; Burns, Graham, Rose, & Simmons, 2012; Graham, Rose, Grunfeld, Kyle, & Weinman, 2011) and mood (Blumen et al., 2009; Kalkman, Schillings, Zwarts, Van Engelen, & Bleijenberg, 2007) are adversely affected by MD.”
From A pilot case series of a brief acceptance and commitment therapy (ACT)-based guided self-help intervention for improving quality of life and mood in muscle disorders (2017) · cites this paper as Blumen et al., 2009
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References 15 · Cited by 54
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Metadata
- Authors
- Blumen, S. C., Bouchard, J. P., Brais, B., Carasso, R. L., Paleacu, D., Drory, V. E., Chantal, S., Blumen, N., & Braverman, I.
- Affiliations
- Technion – Israel Institute of Technology (IL)
- Venue
- Neurology
- Published
- 2009-08-25
- Volume
- 73
- Issue
- 8
- Pages
- 596-601
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- OpenAlex
- W1979561213
- Cited by
- 54
- References
- 15
- Citations by year
- 2026: 4 · 2025: 1 · 2023: 3 · 2022: 2 · 2021: 1 · 2020: 3 · 2019: 6 · 2018: 3 · 2017: 5 · 2016: 2 · 2015: 2 · 2014: 4 · 2013: 8 · 2012: 1
- FWCI
- 1.38
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Neurology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Muscle Physiology and Disorders
- Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
- Keywords
- oculopharyngeal muscular dystrophy, PABPN1, homozygotes, cognitive impairment, psychosis, life expectancy, consanguinity, French Canadians, disease progression, dysphagia, ptosis, gastrostomy tube feeding
- MeSH terms
- Cognition Disorders, Female, Follow-Up Studies, Humans, Life Expectancy, Longevity, Male, Middle Aged, Muscular Dystrophy, Oculopharyngeal
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