Oculopharyngeal Muscular Dystrophy in an Irish Family

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    Oculopharyngeal Muscular Dystrophy in an Irish Family *S. Eustace, C. Gleeson, M. Joyce and P. Sullivan

    Mallow County Hospital, Mallow, Co. Cork.

    Summary VictoP and his associates coined the term ocalo- pbaryngealmuscular dystrophy to describn a clini- cal syndrome chamcterised by dysphagia md ptosis. Subsequent authors have traced a large series in French Canadians to a single Quebec isolate and have emphasized that the condition is usually inherited as a dominant trait :a. In 1974 Fried 4 reported two isolated eases in an Ashke- nazi Jewish family of Hungarian extract in whom the condition was recessively inherited. In this paper we report an Irish family from North Cork with typical features of oculopharyngeal muscular dystro~y in whom the inheritance pattern is dominant with incomplete expression. In repotting such cases the ethnic and genctic heterogeneity of oculopharyngeal muscular dys- trophy is highlighted. Case Report I. A 68 year old farmer was admitted for investigation of recurrent chest infections. He cot'nplained of a 20 year history of progressive difficulty swallowing, productive cough and im- paired vision. On examination he had a gaunt expressionless appearance with bilateral ptosis to mid pupilia~ level. Both right and left gag reflexes were noted to be reduced and sluggish, and on swallowing fluids were noted to regurgl- tale through his nostrils. Chest examination revealed the presence of biba- sal coarse crepitations suggestive of aspiration. No further physical abnormalities were noted, On investigation, full blood count, urea, and electrolytes, liver function tests, sedimentation rate, thyroid function tests, muscle enzymes (FK, LDH) and dectrceardiogram were normal. Chest radiograph confirmed aspiration. Tensilon test was negative. Oesopbagoscopy outruled organic obstruction, and confirmed sluggish pharyogeal muscular activity, A clL, aical diagnosis of oculo- pharyngeal dystrophy was made on the basis of associated ptosis and dysphagia occuning in the presence of a supportive family history. Case 2, A 46 year old nephew of patient l presented complaining of progressive drooping of his eyelids over a 5 year period, He described no difficulty swallowing. On examination, he was noted to have bilatreral ptosis with normal eye movements; right and left gag reflexes were present but sluggish. Swallow- ing was performed without nasal regurgitation. on investigation, full blood count, urea and electro. lyres,liver functien tests, sedimentation rate, ch~t X-ray, electrocardiogram, muscle enzymes, thy. roid function tests and Tensilon test were normal - EMG studies of levator Palpebrae Su~riofis showed some small polyphasic units consistent with a myopathie process. Studies of orhicalaris otis and radial nerves were normal.

    Family History The proposita, a 68 year dd farmer was one of 4 brothers and 2 sisters. His parents had normal lifespans though his mother had ptosis and dysph-

    *Present address : St. Vincent's Hospital, Elm Park, Dublin 2.

    Photo I

    agia in old age, Among his siblings, 2 girls were phenotypically normal whilst one of 3 brothers complained of dyspbagia and had ptosis. In addition, one brother diagnosed as having Parkinson's disease had characteristic ptosis on review of family photographs (see photo 1). The proposita was a bachelor, only one brother of all his siblings had offspring, 2 boys (including patient 2) and 2 girls. Of these, both girls are phenotypieally normal, Both brothers have had EMG studies; one normal and the other, Case 2, has myopathic changes (Fig, 1).

    Diseusshin Oculopharyngeal muscular dystrophy is an un- usual primary myepathy chamcterised by bilat- eral ptosis and dysphagia. Only since 1962 has this rare disorder become clinically recognised, highlighted in 1966 by Bar- beau 2 who traced 160 cases to a common ances- tor, a Huguenot who emigrated from France to Quebec in 1634, during times of depression. In this paper OCPMO is reported occurring in three generations of an Irish family, Whilst it is possible that these cases an: the result of a sporadic mutation, it is of interest that North Cork is an area with established Huguenot ances- try; Huguenot settlements in Cork, Kinsale and Limerick date from the early 1600's ~. Case I exemplifies typical features of this condi- tien with onset in the fourth decade; ptosis was followed after 5 years by the devdopment of progressive dysphagia, On presentation, success- ful ingestion and emptying of his pharynx was Only achieved following several attempts at s'wal- lowing, The diagnosis of this condition is essentially clinical, an electromyogram confirming myopa- thy and biopsy showing ulirastmctural mitochon-

    Family Tree .I

    (~ III Male Female

    9 @ ........

    Fig. l - Family Tree, showing the disease in male and female members of 3 generations

    drial abnormalities support the diagnosis, but neither of them is specific *a,t. Affected patients should be reassured of the be- nign nature of this disorder. In a small number, ptosis may be corrected surgically. In addition, inferior constrictor myotomy may correct dysph- agia in those in whom hampered swallowing threatens starvation 9.

    References 1. Victor, M., Hayes, R., Adams, R. Oculo-

    pharyngeal muscular dystrophy. N.E.J.M. 1962: 267, 1267.

    2. Barbeau, A. The syndrome of hereditary late-onset ptosis and dysphagia in French Canada; in Kuhn, E. (Ed.): Symposium uber Progressive Muskel-Dystropie, Berlin. Springer-Verlag Publishing Co. Inc. 1966: pp. 102-109,

    3. Murphy, S. F. and Dmchman, D. B. The Oculopharyngeal Syndrome. LA.M.A. 1968: 1003-1008,

    4. Fried, K., A duzorov, A., Spira, R. Autosomal recessive oculopharyngeal muscular dys trophy. Journal of Medical Genetics. 1975: 12,416.

    5. Huguenot ancestry. Currer-Briggs, N., Gambier, R. Phillirnore & Co. Ltd. 1986.

    6. Little, B. W, and Peril, D. P. Oculopharyn- geal muscular dystrophy. An autopsied case from French Canadian Kindred. J. Neurol. Sd. 1982: 53, 145-158.

    7. Torn6, F. M. S. and Fardeau, M. Nuclear inclusions in oculopharyngeal dystrophy. Acta Neuropathol. 1980: 49, 85-87.

    8. Coquet, M., Vallat, J. M., Vital, C., Foumier, M., Barot, M., Orgogaza, J. M.. Julien, J. and Loiseau, P. Nuclear inclusions in oculo- pharyngeal dystrophy. An ultrasonic study of six cases. J. Neurol. Sci. I983: 60, 151 156.

    9. Montgomery, W, W., Lynch, 1, P. Oculo- pharyngeal muscular dystrophy treated by inferior constrictor myotomy. Trans. Am. Acad. Ophthalmol. Otolaryngol. 1971 : 75, 986-993.