Early onset myotonic dystrophy in association with polyneuropathy.
نویسندگان
چکیده
A patient with early onset of myotonic dystrophy, with associated neuropathy and epilepsy, is presented. It is postulated that his disorder was inherited through a recessive, pleomorphic gene. His differential diagnosis is discussed and the literature reviewed. The clinical variability of myotonic dystrophy is stressed and the diagnostic difficulties encountered in the younger age group.
منابع مشابه
Genotype–Phenotype Correlations in Iranian Myotonic Dystrophy Type I Patients
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Myotonic Dystrophy is an autosomally dominant inherited disease affecting individuals of all ages. It’s prevalence among Caucasians is estimated at 35 per 100,000 individuals in the population. (1) The age of onset allows for specific classification of the disease into one of four categories: congenital, which appears at birth; juvenile, appearing up through teenage years; adult, symptoms start...
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Myotonic dystrophy type 1 (DM1) is an autosomal dominant disorder with variable expression. DM1 results from a trinucleotide expansion in the 3' untranslated region or the gene for myotonic dystrophy protein kinase (DMPK). Severity tends to increase and it shows a younger onset age with vertical transmission, a phenomenon known as anticipation. Congenital myotonic dystrophy (CDM) is classified ...
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ورودعنوان ژورنال:
- Journal of neurology, neurosurgery, and psychiatry
دوره 38 11 شماره
صفحات -
تاریخ انتشار 1975