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1/8. Correction of blepharoptosis in oculopharyngeal muscular dystrophy.

    Oculopharyngeal muscular dystrophy is a hereditary, autosomal dominant, slowly progressive disorder with onset that occurs during middle age. Major symptoms are ptosis and dysphagia resulting primarily from selectively involved levator palpebrae and the pharyngeal muscles. Progressive, usually symmetrical blepharoptosis, with or without dysphagia, appears during middle age. Muscular weakness in the limbs can be noted in some patients. The guidelines for surgery in myopathic ptosis are conservative in view of the increased risk of postoperative corneal complications. However, orbicularis function remains intact in oculopharyngeal muscular dystrophy; therefore, corrective surgery is performed in most patients. This report describes four cases of ptosis correction in patients with oculopharyngeal muscular dystrophy in one family. The frontalis action was very poor to qualify for frontalis transfer; therefore, the authors performed moderate to large levator resection in all patients. The follow-up results 5 years postoperatively are promising to date and all the patients are satisfied with the results. ( info)

2/8. Familial arachnoid cysts associated with oculopharyngeal muscular dystrophy.

    Cerebral arachnoid cysts that occur in more than one member of a family have been rarely reported. These familial cases are important because they imply a genetic component in the pathophysiology of these arachnoid cysts. We present an unusual family in which two conditions, a genetic myopathy, oculopharyngeal muscular dystrophy (OPMD), and arachnoid cysts occur together. OPMD is caused by a mutation in the PAPB2 gene that localizes to chromosome 14. In this family, two siblings with genetically confirmed OPMD both have left hemispheric intracranial arachnoid cysts unassociated with other cerebral abnormalities. The association of these two disorders suggests that in this family, a chromosome 14 gene may play a role in the development of arachnoid cysts. ( info)

3/8. diagnosis and treatment of oculopharyngeal dystrophy: a report of three cases from the same family.

    Oculopharyngeal muscular dystrophy is a hereditary pathology transmitted in an autosomal dominant manner. The clinical symptoms are palpebral ptosis, oropharyngeal dysphagia and proximal limb weakness. Upper gastro-esophageal endoscopy is recommended to study the dysphagia, a video-radiology study with barium and an esophageal manometry to study the pharyngeo-esophageal motor disorder. Muscle biopsy reveals the presence of atrophic fibers substituted by an increase in fat and connective tissue. In 1998 Brais described the genetic alteration responsible for this pathology, a limited expansion of the triplet of GCG nucleotides in PABP2 gene on chromosome 14q11. Normal individuals have the homozygotic form (GCG)6 of this triplet, whereas patients with the described syndrome have the heterozygotic form (GCG)6-(GCG)9 or (GCG)6-(GCG)10. We present three siblings from the same family with diagnoses and genetic confirmations of oculopharyngeal dystrophy. Two of the patients underwent cricopharyngeal myotomy to relieve the dysphagia. ( info)

4/8. Obstructive sleep apnea syndrome complicating oculopharyngeal muscular dystrophy.

    We report a 75-year-old Spanish-American woman who received a diagnosis of oculopharyngeal muscular dystrophy after presenting with ptosis and dysphagia. She also complained of snoring and daytime somnolence, and was found to have obstructive sleep apnea (OSA) syndrome attributable to her neuromuscular disorder. This is the first report of OSA syndrome complicating typical, adult-onset oculopharyngeal muscular dystrophy, and should prompt the evaluation of other such patients for sleep-disordered breathing. ( info)

5/8. Oculopharyngeal muscular dystrophy with PABPN1 mutation in a Chinese Malaysian woman.

    Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant disorder of middle age presenting as progressive dysphagia and eyelid ptosis, due to short expansions of the GCG trinucleotide repeat (from GCG6 to GCG8-13) in the polyadenylate binding-protein nuclear 1 (PABPN1) gene. OPMD is rarely seen in Asians and morphologically and/or genetically confirmed cases have been reported in Japanese kindreds only. We report a 64 year old Chinese-Malaysian woman who presented with progressive dysphagia and bilateral ptosis for about 6 years. Her mother and elder brother (both deceased) were believed to be affected. Muscle histopathology revealed angulated fibres with rimmed vacuoles. Genetic analysis showed repeat expansion in one allele to (GCG)9 while normal in the other (GCG)6. This is the first non-Japanese Asian family with genetically confirmed OPMD. ( info)

6/8. Oculopharyngodistal myopathy in a Thai family.

    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 ( info)

7/8. A de novo PABPN1 germline mutation in a patient with oculopharyngeal muscular dystrophy.

    BACKGROUND: Oculopharyngeal muscular dystrophy (OPMD) is a late-onset autosomal dominantly inherited disorder characterized by dysphagia, ptosis, and proximal limb weakness and is caused by germline mutations (triplet repeat expansions) in the polyadenylate binding protein nuclear 1 (PABPN1) gene. OBJECTIVE: To describe a 70-year-old female patient with OPMD on the clinical and molecular genetic level and to develop a rapid and efficient molecular genetic screening method to study large patient groups. methods: Detailed family history and clinical assessment of the OPMD patient were followed by mutation analysis of the PABPN1 gene by direct dna sequencing and by our newly developed method, fluorescent PABPN1 polymerase chain reaction (PCR) product (flPPP) method. A cohort of 50 healthy Swiss probands was screened using the flPPP to assess the frequency of the (GCG)7 allele in the Swiss population. Cricopharyngeal myotomy was performed as treatment for dysphagia. RESULTS: A heterozygous (GCG)9 triplet repeat expansion in PABPN1 was identified. Since the family history proved to be negative, the mutation is likely to have occurred de novo. The frequency of the (GCG)7 allele among healthy Swiss controls amounted to 1%. The flPPP method showed a sensitivity and specificity of 100%. Two years after cricopharyngeal myotomy, the patient is still relieved of dysphagia. CONCLUSIONS: An otolaryngologist should include OPMD in the differential diagnosis of a patient presenting with dysphagia, as this symptom can be the first sign of the disease and family history can be negative. Molecular genetic testing represents a highly accurate and rapid way to confirm the clinical diagnosis of OPMD. Cricopharyngeal myotomy relieves the patient of dysphagia in the majority of cases. ( info)

8/8. Oculopharyngeal muscular dystrophy: a point mutation which mimics the effect of the PABPN1 gene triplet repeat expansion mutation.

    BACKGROUND: Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant late onset neuromuscular disease characterised by proximal muscle weakness, ptosis, and swallowing difficulty. The only causative mutation described to date is a triplet repeat expansion consisting of two to seven additional base triplets in a repeat sequence in exon 1 of the polyadenine binding protein nuclear 1 (PABPN1) gene. This results in an increase in length of a polyalanine tract in the PABPN1 protein from 10 to 12-17 residues. OBJECTIVE: Description of another mutation in a case of OPMD. methods: sequence analysis of exon 1 of the PABPN1 gene was undertaken on 202 patients referred for a possible diagnosis of OPMD but negative for the triplet repeat expansion mutation. RESULTS: A case was identified with typical symptoms of OPMD, negative for the repeat expansion mutation but with a missense mutation in PABPN1 close to the 3' end of the normal polyalanine codon repeat sequence. CONCLUSIONS: The single base mutation changes a glycine codon to an alanine codon and results in an increase in the number of contiguous polyalanine codons. This mimics the effect of the common triplet repeat expansion mutation and represents a previously undescribed mechanism of mutation. ( info)

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