Oculopharyngeal Muscular Dystrophy Associated with Dementia

Mizoi, Yoshikazu; Yamamoto, Toshiyuki; Minami, Narihiro; Ohkuma, Aya; Nonaka, Ikuya; Nishino, Ichizo; Tamura, Naotoshi; Amano, Takahiro; Araki, Nobuhito

doi:10.2169/internalmedicine.50.5577

Cited by 10 publications

(5 citation statements)

References 10 publications

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“…Despite the relatively low number of patients and the high rate of nonparticipating patients, these results further substantiate previous case reports suggesting brain involvement in OPMD [15,16]. Indeed, frontotemporal atrophy was reported on MRI in single cases of OPMD [3].…”

Section: Discussionsupporting

confidence: 90%

Behavioural Impairment and Frontotemporal Dementia in Oculopharyngeal Muscular Dystrophy

Tankink

Horlings

Voermans

et al. 2022

JND

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Some patients with Oculopharyngeal Muscular Dystrophy (OPMD) develop frontotemporal dementia (FTD). The prevalence and clinical correlates of behavioural impairment, including FTD, is unknown in OPMD. 24 OPMD patients and their proxies completed a questionnaire concerning behavioural impairment (ALS-FTD-Q). We examined proportions with mild or severe behavioural changes, according to validated cut-off proxy scores. We examined correlations with the Hospital Anxiety and Depression Scale (HADS), the Short Form Health Survey (SF-36), motor symptoms, genotype and disease duration. In this small patient sample, behavioural impairment was present in 29%of OPMD patients; in 17%the severity of symptoms was compatible with bvFTD. Correlations were small to medium.

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Section: Discussionsupporting

confidence: 90%

Behavioural Impairment and Frontotemporal Dementia in Oculopharyngeal Muscular Dystrophy

Tankink

Horlings

Voermans

et al. 2022

JND

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“…The sequence in which patients present with muscular and cognitive symptoms appears to differ in the patients reported so far 3 6–8 10. Dubbioso et al 8 noted a negative correlation between the severity of OPMD mutations and some neuropsychological scores.…”

Section: Discussionmentioning

confidence: 84%

Oculopharyngeal muscular dystrophy (OPMD) and dementia in a 75-year-old female

Nisbet¹,

Marshall

2019

BMJ Case Rep

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Oculopharyngeal muscular dystrophy (OPMD) is a relatively rare, adult-onset disorder characterised by proximal limb weakness, progressive eyelid drooping and swallowing difficulties. Preliminary research suggests there could be a link between OPMD and dementia; however, the current literature is relatively limited and inconsistent. This case study describes a 75-year-old female with OPMD, presenting to an older adults community mental health team with memory problems and word finding difficulties. A neuropsychological assessment was carried out. The results of her assessment were difficult to interpret; she demonstrated impairments in most cognitive domains tested and her presentation did not appear to reflect any typical dementia profile. It was thought she was most likely presenting with a dementia; however, the exact aetiology remains unclear. The dementia could be a result of OPMD, vascular changes or both. This report emphasises the need for further research into the possible causal link between OPMD and dementia/cognitive decline.

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“…Patients with OPMD can manifest extramuscular symptoms (Figure 1), such as deterioration of respiratory function, including decreased forced expiratory volume in 1 s [30], although cardiac functions may be preserved. Coexistence with dementia [31,32], executive function deficits [33], or peripheral neuropathy [34] was reported. Approximately half of the patients complained of fatigue and pain, and most of the patients were impaired in daily life activities, social participation, and ambulation [35].…”

Section: Presentationmentioning

confidence: 99%

Recent Progress in Oculopharyngeal Muscular Dystrophy

Yamashita

2021

JCM

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Oculopharyngeal muscular dystrophy (OPMD) is a late-onset intractable myopathy, characterized by slowly progressive ptosis, dysphagia, and proximal limb weakness. It is caused by the abnormal expansion of the alanine-encoding (GCN)n trinucleotide repeat in the exon 1 of the polyadenosine (poly[A]) binding protein nuclear 1 gene (11–18 repeats in OPMD instead of the normal 10 repeats). As the disease progresses, the patients gradually develop a feeling of suffocation, regurgitation of food, and aspiration pneumonia, although the initial symptoms and the progression patterns vary among the patients. Autologous myoblast transplantation may provide therapeutic benefits by reducing swallowing problems in these patients. Therefore, it is important to assemble information on such patients for the introduction of effective treatments in nonendemic areas. Herein, we present a concise review of recent progress in clinical and pathological studies of OPMD and introduce an idea for setting up a nation-wide OPMD disease registry in Japan. Since it is important to understand patients’ unmet medical needs, realize therapeutically targetable symptoms, and identify indices of therapeutic efficacy, our attempt to establish a unique patient registry of OPMD will be a helpful tool to address these urgent issues.

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Oculopharyngeal Muscular Dystrophy Associated with Dementia

Cited by 10 publications

References 10 publications

Behavioural Impairment and Frontotemporal Dementia in Oculopharyngeal Muscular Dystrophy

Behavioural Impairment and Frontotemporal Dementia in Oculopharyngeal Muscular Dystrophy

Oculopharyngeal muscular dystrophy (OPMD) and dementia in a 75-year-old female

Recent Progress in Oculopharyngeal Muscular Dystrophy

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