There has been controversy whether oculopharyngodistal myopathy (OPDM) commonly seen in Japan is a distinct disease entity or a variant of oculopharyngeal muscular dystrophy (OPMD) initially described in French-Canadians and has since been reported in other ethnic groups. Both diseases have autosomal dominant inheritance and OPDM patients are clinically similar to OPMD with slowly progressive ptosis, ophthalmoplegia and dysphagia except that most of the former usually have distal as opposed to proximal weakness and most of them are genetically different from the latter The authors report here 2 siblings with clinical features of OPDM. This entity is rare outside Japan and this is the first family to be reported from Thailand
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CGG Repeat Expansion in Causing Overlapping Oculopharyngodistal Myopathy and Neuronal Intranuclear Inclusion Disease With Diffusion Weighted Imaging Abnormality in the Cerebellum.
J Clin Neurol
November 2024
Department of Neurology, The First Hospital of Shanxi Medical University, Taiyuan, China.
Background And Purpose: CGG repeat expansion in the 5' untranslated region (5'UTR) of the Notch 2 N-terminal-like C gene () has been associated with neuronal intranuclear inclusion disease (NIID) and oculopharyngodistal myopathy type 3 (OPDM3). Few OPDM3 patients have been reported. This report describes two OPDM3 patients with novel imaging findings who presented the typical features of NIID, and reviews all OPDM3 cases available in the literature.
View Article and Find Full Text PDFSequential development of parkinsonism in two patients with oculopharyngodistal type myopathy in GIPC1-related repeat expansion disorder.
Neuromuscul Disord
November 2024
Department of Neurology, Tokyo Metropolitan Neurological Hospital, 2-6-1 Musashidai, Fuchu, Tokyo 183-0042, Japan.
Article Synopsis
- A CGG repeat expansion in the 5' UTR of the GIPC1 gene is linked to oculopharyngodistal myopathy (OPDM), a hereditary muscle disorder causing symptoms like eyelid drooping and muscle weakness.
- This mutation has also been associated with Parkinson's disease, although without myopathy symptoms in those cases.
- In two unrelated cases, patients with myopathic symptoms later developed parkinsonism, indicating that GIPC1-related repeat expansions may lead to various neuromuscular issues, highlighting the need to recognize central nervous system symptoms in OPDM2.
CGG/CCG Repeat Expansions in in Thai Patients With Oculopharyngodistal Myopathy.
Neurol Genet
August 2024
From the Department of Medicine (S.P.), Bhumibol Adulyadej Hospital; Department of Neurology (M.A., T.T.), Neurological Institute of Thailand; Department of Medicine (R.W., C.D.), Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok; Department of Medicine (T.L.), HRH Princess Sirindhorn Hospital, Rayong; Department of Radiology (S.W.), Bhumibol Adulyadej Hospital, Bangkok, Thailand; Department of Neuromuscular Research (A.Y., I.N.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); and Department of Clinical Genome Analysis (S.F., A.I., I.N.), Medical Genome Center, NCNP, Tokyo, Japan.
Objectives: This study characterizes oculopharyngodistal myopathy in 4 Thai patients from 3 families with CGG/CCG repeat expansion in .
Methods: Repeat-primed PCR analyzed CGG/CCG repeat size in in 4 Thai patients suspected of oculopharyngodistal myopathy (OPDM). Clinical records were reviewed for clinicopathologic features.
Erratum: CGG/CCG Repeat Expansions in in Thai Patients With Oculopharyngodistal Myopathy.
Neurol Genet
October 2024
[This corrects the article DOI: 10.1212/NXG.0000000000200170.
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