Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029089 (ophthalmoplegia)
 3,338 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We reported two cases of brothers demonstrating oculopharyngeal muscular dystrophy (OPMD). The cases had consanguineous parents and five healthy siblings, which suggested the autosomal recessive inheritance. The initial symptom was slowly progressive blepharoptosis with onset in the third decade. On examination, total external ophthalmoplegia was observed in both patients. Additionally, the elder, a 57-year-old man, exhibited dysarthria, dysphagia and muscular weakness with atrophy of the face, bilateral proximal upper limbs and diffuse lower limbs. The younger brother, a 55-year-old man, displayed muscular weakness and atrophy distributed in the face and four limbs. Muscle biopsy of both cases revealed rimmed vacuoles and spheroid bodies in the atrophic and normal-sized fibers. Biochemical study of the biopsy specimens of the elder brother disclosed the myophosphorylase activity reduced to about 40% of the normal value, although in the younger brother, that activity was normal. OPMD is usually inherited in the autosomal dominant mode, and autosomal recessive OPMD is rare. The onset age of our cases was younger than that of the autosomal dominant OPMD. There were some differences in the clinical manifestation between the presented cases, which could be interpreted as phenotypic variation. The elder brother was thought to be associated with McArdle's disease.
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PMID:[Autosomal recessive oculopharyngeal "muscular dystrophy"--clinical features and association with reduced activity of myophosphorylase]. 191 22

Oculopharyngodistal myopathy is characterized by the adult onset of ptosis, external ophthalmoplegia, dysphagia, and distal weakness. Although dysphagia is common, other gastrointestinal involvement has not been described. We report a case with childhood onset who developed chronic intestinal pseudo-obstruction. Other myopathies associated with ophthalmoplegia and intestinal pseudo-obstruction such as mitochondrial cytopathies were excluded. Whether oculopharyngodistal myopathy is a variant of oculopharyngeal muscular dystrophy or a distinct neuromuscular disorder is unknown and requires further study.
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PMID:Childhood-onset oculopharyngodistal myopathy with chronic intestinal pseudo-obstruction. 763 Mar 44

Progressive external ophthalmoplegia comprises many different disorders. Those of childhood onset can be separated from juvenile or adult onset. Among those of later onset the most common causes are oculopharyngeal muscular dystrophy, oculopharyngodistal muscular dystrophy and the several mitochondrial disorders, especially those with large deletions of mitochondrial DNA (mtDNA) (sporadic), those with maternal inheritance (point mutations), or the autosomal dominant forms with multiple deletions of mtDNA. Ophthalmoplegia of presumably neurogenic origin is seen in some of the familial spinocerebellar ataxias. Advances in molecular genetics should provide information about affected gene products and, therefore, pathogenesis.
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PMID:Oculopharyngeal muscular dystrophy, other ocular myopathies, and progressive external ophthalmoplegia. 939 10

We studied prospectively 105 unselected patients complaining of ptosis and/or diplopia due to extrinsic ophthalmic muscle palsies without other neurological signs. All patients underwent the same diagnostic protocol. The presenting symptoms were: ptosis, 35 patients (33%); diplopia, 27 patients (26%); ptosis and diplopia, 43 patients (41%). The oculomotor nerve was most frequently involved, followed by the abducens nerve. The final diagnoses were: ocular myasthenia, intracranial and/or orbital pathology, thyroid ophthalmopathy, diabetic ophthalmoplegia, mitochondrial myopathy, oculopharyngeal muscular dystrophy. In 26 patients (25%) the cause remained undetermined. Our study confirms the difficulty of establishing an aetiological diagnosis in patients with isolated ocular palsies.
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PMID:Ocular palsies in the absence of other neurological or ocular symptoms: analysis of 105 cases. 940 41

Mutations in nuclear or mitochondrial DNA may cause disorders of neuro-ophthalmic significance. These include disorders of the optic nerve, such as Leber's hereditary optic neuropathy and Kjer-type optic atrophy, and disorders of ocular motility, such as congenital nystagmus, autosomal dominant progressive external ophthalmoplegia, and oculopharyngeal muscular dystrophy. In addition to more accurate disease classification and diagnosis, identification of genetic loci, genes, and their mutations has stimulated investigation into factors influencing disease expression and penetrance.
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PMID:Neuro-ophthalmic genetics. 1017 1

Clinicopathological and molecular genetic findings on a new Japanese family with oculopharyngeal muscular dystrophy are reported. The family has 54 members, ten of whom are affected (seven male and three female), in 3 generations. Three affected males, one affected female and one unaffected female of seven living siblings in the third generation were examined. Bilateral ptosis developed in the 4th and 5th decades in the three male cases, and in the 7th decade in the female, and this was followed by diplopia, nasal voice, dysphagia and muscle weakness. In addition, severe external ophthalmoplegia, dysphonia, and proximal amyotrophy were prominent in this family. Electromyographs revealed myogenic/neurogenic changes, and computed tomography disclosed selective muscle wasting with fatty replacement, predominantly in the lower extremities. Muscle biopsy in the four affected patients showed variation in fiber size, and the presence of small angulated fibers and occasional rimmed vacuoles. Electron microscopic examination revealed an accumulation of filamentous inclusions in muscle fiber nuclei. DNA analysis identified that (GCG)(6) in the PABP2 gene was expanded to (GCG)(11) in the four affected cases examined. All studies were negative in the one unaffected. These results confirm that OPMD is caused by GCG short expansion and provides insights into the genetic mechanisms which may contribute to adult onset myopathy, confined to oculopharyngeal muscles.
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PMID:Oculopharyngeal muscular dystrophy in a Japanese family with a short GCG expansion (GCG)(11) in PABP2 gene. 1073 63

Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant disorder of late onset that commonly presents with ptosis and dysphagia. The genetic basis of the condition has been identified recently as a stable trinucleotide repeat expansion in exon 1 of the poly(A) binding protein 2 gene (PABP2), in which (GCG)(6) is the normal repeat length. The prevalence of OPMD is greatest in patients of French-Canadian origin. It is not clear if expansion repeat length is a reliable test in other populations. In this study, we analysed the phenotypic and genotypic characteristics of 31 patients with OPMD in the UK. Ptosis was the first reported symptom in two-thirds of the patients, and half of the subjects studied had evidence of ophthalmoplegia. All but one family had a pathological expansion in the PABP2 gene, ranging from (GCG)(8) to (GCG)(13). In contrast to the French-Canadian population, (GCG)(10) was almost as common as (GCG)(9), evidence against a strong founder effect in the UK population. There was a weak association between repeat length and age of disease onset. Patients with longer repeat lengths, such as (GCG)(13), developed severe limb weakness early in the disease. We were unable to detect the (GCG)(7) polymorphism in over 200 normal controls, suggesting that the frequency of this expansion is lower than that found in the French-Canadian population. One family was negative for the expansion. Affected members presented with the classical features of OPMD, namely ptosis, dysphagia and cytoplasmic inclusions on muscle biopsy, although with some atypical features, such as early age of onset, high serum levels of creatine kinase and a profound ophthalmoplegia. This family is an example of a GCG expansion-negative oculopharyngeal syndrome requiring further genetic investigation. We conclude that PABP2 analysis is a reliable non-invasive diagnostic test for OPMD in the UK population.
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PMID:Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a UK population. 1122 52

In some muscular dystrophies there is ocular involvement characterized by blepharoptosis and ophthalmoplegia. These conditions occur in chronic progressive external ophthalmoplegia, oculopharyngeal muscular dystrophy, mitochondrial myopathy, myotonic dystrophy, and ocular myasthenia, among others. Although they differ in their systemic clinical manifestations and in genetic inheritance, ocular involvement is common to all of them. Manifestations include bilateral progressive blepharoptosis with or without extraocular muscle malfunction. During surgical repair of the ptotic eyelid, consideration must be given to eyeball movements, in addition to maximal eyelid elevation, and to avoiding overcorrection and consequent corneal overexposure, leading to dryness and visual impairment. With these muscular dystrophic disorders, resection of the levator muscle or blepharoplasty alone does not suffice. Follow-up shows that most patients need a secondary repair after a short while. Operative correction uses a frontalis sling for eyelid elevation and support. A series of 8 patients with these diseases, operated on by various surgical techniques during the past 7 years, is presented.
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PMID:[Surgery for blepharoptosis in muscular dystrophy]. 1134 Nov 88

Nine patients over 5 generations developed progressive bilateral blepharoptosis from 40 to 50 years of age, suggesting that they had an autosomal dominantly inherited blepharoptosis. Except for the ptosis, they had no apparent neurological symptoms: normal ocular movement, no bulbar sign and no muscle weakness in the extremities. On laboratory examination, serum creatine kinase and blood lactate levels were within normal limits, and acetylcholine receptor antibody was not elevated. Electrophysiological studies including EMG and nerve conduction velocities were normal. Muscle biopsies from gastrocnemius and palpebral muscles were nondiagnostic with no ragged-red fibers nor rimmed vacuoles. Nuclear inclusions were not recognized by electron microscopy. Since none of patients examined had mitochondrial DNA deletions and GCG repeat expansion in the poly A binding protein P2 (PABP2) gene, this familial disorder is a unique blepharoptosis with no relationship to progressive external ophthalmoplegia or oculopharyngeal muscular dystrophy with PABP2 mutation.
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PMID:[Familial chronic progressive blepharoptosis without other neurological symptoms: a new clinical entity?]. 1235 44

We present a 25 year follow up of two siblings with autosomal recessive (AR) oculopharyngodistal myopathy. Remarkable in these patients, in comparison with patients with oculopharyngeal muscular dystrophy (OPMD), are the earlier age of onset, severe facial weakness, external ophthalmoplegia early in the course of the disease, and distal weakness in the limbs. Histological features included basophilic-rimmed vacuoles, but the typical OPMD intranuclear filaments were absent. These clinical and histological characteristics are comparable with those of two Japanese patients with AR oculopharyngodistal myopathy. This myopathy has usually been described as an autosomal dominant (AD) muscle disorder. It shares some clinical and histological characteristics with OPMD, but most patients with AD oculopharyngodistal myopathy are genetically different. Here we exclude an expansion of the GCG repeat or any other mutation in the coding region of the PABPN1 gene (responsible for OPMD) in patients with AR oculopharyngodistal myopathy. From this we conclude that AR oculopharyngodistal myopathy is a distinct phenotypical, histological, and genetic entity.
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PMID:Autosomal recessive oculopharyngodistal myopathy: a distinct phenotypical, histological, and genetic entity. 1537 9


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