Document Type
Original Article
Abstract
Myotonic dystrophy also known as (Steinert's disease) is a clinically and genetically heterogeneous multisystem disorder with a prevalence of 1 in 8000 in the general population. It is inherited as an autosomal dominant trait. It is characterized by myotonia, myopathy of voluntary and involuntary muscles, frontal baldness in men, cardiac conduction abnormalities, cataracts, intellectual deterioration and endocrinopathies. Affected men may have gonadal atrophy and infertility. On the other hand women are generally fertile. We report a case series of three individuals belonging to the same family presenting with characteristic features of myotonic dystrophy. The presentation of these cases depicts that this disease can lead to disability, loss of independence and social isolation especially in the elderly. They warrant adequate work up for diagnosis which may sometimes be extensive. Proper genetic counseling of the family is required regarding nature of the disease and with risks and prognosis.
Recommended Citation
Shahzad, Waleed; Hassan, Muhammad; Badshah, Mazhar; Rajput, Haris Majid; Jan, Zakir; and Inayat, Tehmina
(2020)
"Myotonic dystrophy in a Pakistani family: a case series and literature review,"
Pakistan Journal of Neurological Sciences (PJNS): Vol. 15:
Iss.
1, Article 6.
Available at:
https://ecommons.aku.edu/pjns/vol15/iss1/6
