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Partial Syndrome of Myotonic Dystrophy: Clinical Presentation and Follow-up

Published online by Cambridge University Press:  18 September 2015

Jean Mathieu ,
Marcel Simard ,
Marc De Braekeleer ,
Camil Boily  and
Aurèle Deschênes
Jean Mathieu*
Affiliation:
Division of Neurology, Hôpital de Chicoutimi
Marcel Simard
Affiliation:
Division of Ophtalmology, Hôpital de Chicoutimi
Marc De Braekeleer
Affiliation:
SOREP, Université du Qudbéc, Chicoutimi, Québec
Camil Boily
Affiliation:
Division of Neurology, Hôpital de Chicoutimi
Aurèle Deschênes
Affiliation:
Division of Ophtalmology, Hôpital de Chicoutimi
*
Hôpital de Chicoutimi, 305 St-Vallier, Qudbéc, Canada G7H 5H6
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Abstract:

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The neurological and ophthalmological investigation of 602 members of 88 Saguenay kindreds affected by myotonic dystrophy (MyD) revealed 130 persons with a partial syndrome. These patients, whose average age was 34.1 years, showed different abnormalities such as particular ophthalmic and/or neuro-muscular signs, suggesting MyD in the absence of myotonia or typical lens abnormalities. After an average period of 2,4 years, 44 of these 130 patients were reassessed by the same neurologists and ophthalmologists. Thirty still had a partial syndrome, 8 showed a typical form of MyD and 6 no longer presented any identifiable anomaly. This preliminary follow-up study of the partial MyD syndrome did not allow us to identify any clinical anomaly from which the presence of the MyD gene could be predicted in a significant way. It furthermore suggested that the identification of equivocal or unspecific signs among these patients can sometimes lead to misdiagnosis. This must be taken into account when providing genetic counselling. It furthermore indicates that the use of DNA probes is essential for a reliable identification of asymptomatic MyD gene carriers.

Type
SPECIAL SUPPLEMENT Dystrophie myotonique au Québec
Information
Canadian Journal of Neurological Sciences , Volume 16 , Issue 1 , February 1989 , pp. 99 - 103
Copyright
Copyright © Canadian Neurological Sciences Federation 1989

References

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