Miranda NG, Sosa BJA, Carrasco VH

Language: Spanish
References: 7
Page: 195-198
PDF size: 432.89 Kb.

ABSTRACT

Introduction. Oculopharingeal muscular dystrophy (OMPD), an autosomal dominant disorder, is an uncommon but distinctive form of muscular dystrophy. It is usually considered among the “adult dystrophies” since it initially manifests in the four or fifth decades of life. Its clinical features include progressive ptosis which is usually the first symptom, and this is accompanied by disphagia and weaknnes of masticatory muscles, which can lead to weight loss. Slow progressive weakness of the neck muscles and proximal arms is also present.
Clinical case. A 68 year-old female patient was admitted to the neurosurgical ward of the Central Military Hospital because of a hypertensive crisis with a history of diagnosis and treatment with pyridostigmine over the last 15 years for myasthenia gravis. Her muscular aliment was reevaluated and ptosis was noted in several members of her family including some who had surgery to correct the problem, as the patient had. She presented with a mild swallowing problem, sialorrea and frecuent phlegm, along with weakness of the proximal muscles with difficulty in maintaining the arms raised because the fatigue. We decided to do a muscular biopsy and genetic study, which resulted positive for OMPD.
Conclusions. Oculopharyngeal muscular dystrophy is a rare disease, and it is important to keep it in mind in patients with a personal and family history and clinical presentation suggestive of this illnes, since the physician can fall into erroneous diagnosis as with patient who was treated as with myasthenia gravis without therapeutic response.

REFERENCES

1. Barohn RJ. Distal myopathies and dystrophies. Semin Neurol 1993; 13: 247.

2. Brais B, Bouchard JP, Xie YG, et al. Short GCG expansions in the PABP1 gene cause oculopharyngeal muscular dystrophy. Nature Genet 1998; 18: 164-7.

3. Dubowitz V. 75th European Neuromuscular Center International Workshop: 2nd workshop on the treatment of muscular dystrophy, 10- 12 december, 1999, Naarden, The Netherlands, Neuromuscular Disord 2000; 10: 313-20.

4. Emery AEH (ed): Neuromuscular Disorders: Clinical and Molecular Genetics. Wiley, Chichester, 1999.

5. Engel AG, Franzini-Armstrong C. Myology, 2a. ed. New York: McGraw-Hill; 1994.

6. Griggs RC, et al. The muscular dystrophies. In: Evaluation and treatment of Myopathies. RC Griggs, et al (eds). Philadelphia: FA Davis; 1995.

7. Victor M, Hayes R, Adams RD. Oculopharyngeal muscular dystrophy: a familial disease of late life characterizad by dysphagia and progressive ptosis of the eyelids. N Engl J Med 1962; 267: 1267-72.