Oculopharyngeal myopathy with distal and cardiomyopathy.

Goto, Itaru; Kanazawa, Yukiko; Kobayashi, T; Murai, Y; Kuroiwa, Yoshigoro

doi:10.1136/jnnp.40.6.600

Cited by 27 publications

(13 citation statements)

References 23 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Ptosis and limitation of eye movement were not shown in other affected persons in the family, which further indicated that the clinical symptoms could vary greatly in the same family 10 . Pseudo‐gastrointestinal ileus 9 and cardiac involvement 6 have been reported in individual patients, but was not present in our patients. EMG examination displayed myopathic changes 3 .…”

Section: Discussioncontrasting

confidence: 58%

“…Oculopharyngodistal myopathy (OPDM) is a rare hereditary muscle disease with both autosomal dominant and autosomal recessive patterns 1–5 . There has been controversy whether OPDM, mainly reported in Japan, is a distinct disease or a variant of oculopharyngeal muscular dystrophy (OPMD) due to the similar clinical symptoms 1,4,6,7 . In two studies genetic and myopathological examinations excluded the possibility of OPMD or mitochondrial myopathy; it is therefore considered as a distinct disease entity 4,5 with yet unidentified genetic defect(s).…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

The clinical and myopathological features of oculopharyngodistal myopathy in a Chinese family

et al. 2008

View full text Add to dashboard Cite

Oculopharyngodistal myopathy is a rare type of hereditary myopathy characterised pathologically by the changes of muscular dystrophy with rimmed vacuoles and intra-muscular tubulofilamentous inclusions. Here we report the clinical and myopathological changes in a Chinese family with oculopharyngodistal myopathy. The proband showed external ophthalmoplegia, dysphagia, distal weakness and atrophy in all extremities. Serum creatine kinase level was mildly elevated and a myopathic pattern with myotonic discharge was demonstrated by electromyography (EMG). Molecular genetic analysis showed that the number of trinucleotide repeat expansions in the polyadenylate-binding protein nuclear 1 gene was within the normal limit. No mutations were indentified in the GNE gene. Five other persons with similar symptoms were found in the same generation. Muscle biopsy was performed on the tibialis anterior muscle in the proband. Muscular dystrophy changes with rimmed vacuoles were the main histopathological changes. Ultrastructural examination revealed numerous tubulofilamentous inclusions in both sarcoplasm and nucleus. EMG showed myotonic discharges in oculopharyngodistal myopathy. In addition to the sarcoplasm inclusions, we confirmed that tubulofilamentous inclusions appeared also in the nucleus.

show abstract

Section: Discussioncontrasting

confidence: 58%

Section: Introductionmentioning

confidence: 99%

The clinical and myopathological features of oculopharyngodistal myopathy in a Chinese family

et al. 2008

View full text Add to dashboard Cite

show abstract

“…Cardiomyopathy has, however, been reported in some cases of oculopharyngodistal myopathy29 and has been a frequent finding in some families with autosomal dominant distal myopathy with desmin storage,19 although not in others 20…”

Section: Clinical Aspectsmentioning

confidence: 99%

Distal myopathies: clinical and molecular diagnosis and classification

Mastaglia

Laing²

1999

Journal of Neurology, Neurosurgery & Psychiatry

View full text Add to dashboard Cite

“…The biggest obstacle in the differential diagnosis of OPDM is DM1. Bigger involvement for anterior femoral compartment's compared to dorsal one in MRI studies of DM1 and the relative preservation of rectus femoris constitute differences from out OPDM group (5). For that reason, MRI investigation of proximal muscles may differentiate OPDM patients from DM1 ones.…”

Section: Resultsmentioning

confidence: 98%

Facial and Skeletal Muscle Magnetic Resonance Imaging In Oculopharyngodistal Myopathy

Durmuş¹,

Dursun²,

Sencer³

et al. 2014

tnd

View full text Add to dashboard Cite

Objective: Oculopharyngodistal myopathy (OPDM) has been reported as a rare, adult-onset hereditary muscle disease. Patients show progressive oculopharyngeal and distal limb muscle involvement. As the genetic defect underlying OPDM is not known yet, the diagnosis currently rests upon clinical and histopathological features. This study was aimed at investigating patterns of muscle alterations of OPDM patients by MRI and to search for possible clues to make differential diagnosis by using a non-invasive method. Ma te ri als and Met hods: Facial, upper and lower extremity muscles of 10 patients with OPDM, followed by the Neuromuscular Unit, Department of Neurology, Istanbul Faculty of Medicine, who had undergone detailed evaluation with manual muscle testing and who had different disease severity were evaluated with MRI using conventional T1 and T2 weighted axial images. The degree of muscle involvement on MRI was evaluated according to a modified 5-point scale in extremities and 6-point scale in facial muscles. Re sults: The mean age of onset was 20.1±8.2 years (range 7-39 years) and the mean disease duration was 14.5±12.4 years (range 2-41 years). Seven patients showed dominantly distal, one patient dominantly proximal weakness and two patients had no weakness. The patients without weakness had normal imaging, but facial muscle MRI from one of them revealed mild involvement. Zygomatic and nasal muscles were the most severely and earliest involved muscles in face. MRI of all patients with muscle weakness showed a consistent selective extremity muscle involvement pattern. Distal extremity muscles were more affected than proximal muscles. Earliest and most sever changes were found in semimembranosus, biceps femoris and medial head of gastrocnemius, soleus. Interestingly, sartorius, gracilis and semitendinous muscles and the lateral head of gastrocnemius were well-preserved in OPDM. Conclusion: Muscle MRI by showing selective involvement of exteremity muscle may be a non-invasive tool in the differential diagnosis of OPDM. (Turkish Journal of Neurology 2014; 20:121-125) Amaç: Okülofaringodistal miyopati (OFDM) erişkin başlangıçlı, nadir, kalıtsal bir kas hastalığıdır. Hastalarda yavaş ilerleyici okülofaringeal tutulum ve distal kaslarda zaaf gözlenir. Altta yatan genetik defektin henüz bilinmemesi nedeniyle OFDM'de tanı günümüzde klinik ve histopatolojik özelliklere dayanmaktadır. Bu çalışmada, OFDM'li hastalarda noninvazif bir yöntem olan manyetik rezonans görüntüleme (MRG) ile kaslardaki değişiklikleri araştırmak ve ayrıcı tanı ipuçları sağlamak amaçlanmıştır. Ge reç ve Yön tem: İstanbul Üniversitesi İstanbul Tıp Fakültesi, Nöroloji Ana Bilim Dalı, Nöromüsküler Hastalıklar Polikliniğinden takipli, farklı hastalık şiddet ve süresine sahip, ayrıntılı nörolojik muayene yapılmış olan 10 OFDM'li hastanın yüz kasları ile üst ve alt ekstremite kasları konvansiyonel T1 ve T2 ağırlıklı aksiyel kesitler alınarak görüntülenmiştir. Yağlı dejenerasyon miktarı göz önünde tutularak ekstremite kaslarına ait olan görüntüler 5, yüz ka...

show abstract

Oculopharyngeal myopathy with distal and cardiomyopathy.

Cited by 27 publications

References 23 publications

The clinical and myopathological features of oculopharyngodistal myopathy in a Chinese family

The clinical and myopathological features of oculopharyngodistal myopathy in a Chinese family

Distal myopathies: clinical and molecular diagnosis and classification

Facial and Skeletal Muscle Magnetic Resonance Imaging In Oculopharyngodistal Myopathy

Contact Info

Product

Resources

About