Oculopharyngodistal myopathy

doi:10.1016/j.nmd.2010.10.002

Neuromuscular Disorders

Volume 21, Issue 2, February 2011, Pages 121-125

https://doi.org/10.1016/j.nmd.2010.10.002 Get rights and content

Abstract

Oculopharyngodistal myopathy is an uncommon myopathy characterised clinically by cranial and distal limb muscle weakness. Here we describe two siblings with autosomal dominant oculopharyngodistal myopathy apparently associated with dilated cardiomyopathy, which in one case progressed to ventricular hypertrabeculation/non-compaction. Electrocardiographic screening was normal and the cardiomyopathy was detected only with echocardiography. Our findings suggest that patients with oculopharyngodistal myopathy should be screened for cardiomyopathy (with both electrocardiography and echocardiography).

Introduction

Oculopharyngodistal myopathy (OPDM) is an uncommon inherited neuromuscular disorder, described in both autosomal dominant and recessive forms [1], [2], [3]. The typical pattern of weakness includes ptosis, ophthalmoparesis, facial and masseter weakness, dysphagia and distal limb involvement particularly of tibialis anterior and intrinsic hand muscles [1], [2]. Reported myopathological findings include non-specific dystrophic change, rimmed vacuoles and sarcoplasmic and, less frequently, nuclear tubular filamentous inclusions [4], [5]. No associated genetic locus has been identified.

OPDM is clinically, pathologically and genetically distinct from the more common oculopharyngeal muscular dystrophy [4], [6]. Unlike oculopharyngeal muscular dystrophy, ophthalmoparesis is often an early and prominent finding, limb weakness is initially distal rather than proximal, 8 nm nuclear inclusions are absent and OPDM is not associated with an expanded GCG repeat of the PABPN1 gene [4], [6].

Here we describe two siblings with autosomal dominant oculopharyngodistal myopathy and an apparent association with cardiomyopathy.

Section snippets

Case reports

The two patients are siblings with non-consanguineous English parents.

The father was described as having had a myopathy involving face and limbs. He is recalled (by the proband) as having had a similar abnormal facial appearance to that that his affected children would later develop. He was not seen by a neuromuscular expert but acquired the diagnosis ‘facioscapulohumeral muscular dystrophy’. It is not known if he had cardiac involvement. He ultimately died aged 46 of ‘respiratory failure’.

This

Discussion

The major postulate of this study is that oculopharyngodistal myopathy may be associated with cardiomyopathy.

The two cases had features that were otherwise consistent with previous descriptions of OPDM [1], [2], [3], [4], [5], [6], [7], [8], [9], [10]. This includes the pronounced ptosis and ophthalmoparesis, distinctive elongated myopathic facies and distal limb involvement particularly of the extensor compartments. However, it is notable that onset in our patients was somewhat earlier and the

Ethical approval

Patient consent was obtained (including consent to publish personally identifiable photographs).

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Cited by (29)

Key Questions Relating to Left Ventricular Noncompaction Cardiomyopathy: Is the Emperor Still Wearing Any Clothes?
2017, Canadian Journal of Cardiology
Citation Excerpt :
Of the data set of more than 3000 asymptomatic participants making up the MESA cohort, the quintile with the greatest ratio between the thicknesses of the trabeculated and compact layers did not have greater risk for either arrhythmia or stroke.10 Excessive trabeculations, nonetheless, are known to be associated with several genetic abnormalities,39,60,61 including abnormalities in cardiomyocyte proteins, Notch signalling pathways,47 and calcium handling.42,62 These findings raise the possibility of a unifying developmental abnormality, which sometimes produces both an abnormal compacted layer and excessive trabeculations.
The evidence is increasing that left ventricular noncompaction cardiomyopathy as it is currently defined does not represent a failure of compaction of pre-existing trabecular myocardium found during embryonic development to form the compact component of the ventricular walls. Neither is there evidence of which we are aware to favour the notion that the entity is a return to a phenotype seen in cold-blooded animals. It is also known that when seen in adults, the presence of excessive ventricular trabeculations does not portend a poor prognosis when the ejection fraction is normal, with the risks of complications such as arrhythmia and stroke being rare in this setting. It is also the case that images of “noncompaction” as provided from children or autopsy studies are quite different from the features observed clinically in asymptomatic adults with excessive trabeculation. Our review suggests that the presence of an excessively trabeculated left ventricular wall is not in itself a clinical entity. It is equally possible that the excessive trabeculation is no more than a bystander in the presence of additional lesions such as dilated cardiomyopathy, with the additional lesions being responsible for the reduced ejection fraction bringing a given patient to clinical attention. We, therefore, argue that the term “noncompaction cardiomyopathy” is misleading, because there is neither failure of compaction nor a cardiomyopathic process in most individuals that fulfill widely used diagnostic criteria.
De plus en plus d’éléments probants tendent à montrer que l’hypertrabéculation ventriculaire gauche (aussi appelée « non-compaction ventriculaire gauche » ou « myocarde spongieux »), telle qu’elle est définie actuellement, ne correspond pas à un défaut de compaction du myocarde trabéculé au cours de l’embryogenèse, laquelle compaction permet la formation de l’élément compact des parois ventriculaires. Selon nos connaissances, aucune donnée probante ne vient non plus appuyer le concept selon lequel cette entité clinique correspondrait au retour d’un phénotype observé chez les animaux à sang froid. Nous savons également que chez les adultes dont la fraction d’éjection est normale, la présence d’une hypertrabéculation ventriculaire n’est pas associée à un pronostic défavorable et que, dans ce contexte, le risque de complications, telles qu’une arythmie ou un accident vasculaire cérébral (AVC), est faible. Les images de « non-compaction » provenant d’examens d’enfants ou d’autopsies vont dans le même sens, puisqu’elles révèlent des particularités très différentes des caractéristiques cliniques observées chez des adultes asymptomatiques présentant une hypertrabéculation. Selon les résultats de notre analyse, l’aspect hypertrabéculé de la paroi ventriculaire gauche n’est pas une entité clinique en soi. Il est également possible qu’en présence de lésions additionnelles, comme une cardiomyopathie dilatée à l’origine de la diminution de la fraction d’éjection qui a motivé la consultation clinique d’un patient donné, l’hypertrabéculation soit accidentelle. Par conséquent, nous soutenons que le terme « non-compaction ventriculaire gauche » est trompeur, car, chez la plupart des patients qui remplissent les critères diagnostiques largement utilisés, on n’observe aucun défaut de compaction ni de signes de cardiomyopathie.
Oculopharyngeal muscular dystrophy or oculopharyngeal distal myopathy: case report
2017, Brazilian Journal of Otorhinolaryngology
The genetic background of left ventricular hypertrabeculation/noncompaction remains vague
2015, Revista Espanola de Cardiologia
A new understanding and definition of non-compaction cardiomyopathy using analysis of left ventricular wall mechanics and stresses
2014, International Journal of Cardiology
Novel MYH7 mutation associated with mild myopathy but life-threatening ventricular arrhythmias and noncompaction
2014, International Journal of Cardiology
Left ventricular hypertrabeculation/noncompaction coincidentally found in sporadic inclusion body myositis
2013, International Journal of Cardiology

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Case reportOculopharyngodistal myopathy – A possible association with cardiomyopathy

Abstract

Introduction

Section snippets

Case reports

Discussion

Ethical approval

Neuromuscul Disord

Neuromuscul Disord

Neuromuscul Disord

Int J Cardiol

Int J Cardiol

Arch Neurol

Muscular dystrophy. Features of ocular myopathy, distal myopathy, and myotonic dystrophy

Arch Neurol

Case report
Oculopharyngodistal myopathy – A possible association with cardiomyopathy