Objective: Myotonic dystrophy (dystrophia myotonica, DM) is the most frequently inherited neuromuscular disease of adult life. 

Background: Classical DM (DM1) has been identified as an autosomal dominant disorder associated with the presence of an abnormal expansion of a CTG trinucleotide repeat on chromosome 19q13.3.

Methods: Patient D, 46 y.o, complains: weakness of distal part of limbs, muscle contractions of hand at the beginning of active movement, voice changing, backaches and impossibility to straighten up walking, absense of vision from the right side, heart aches. Onset of disease in 2007 (at the age of 40), when he firstly feel weakness of distal muscles of legs, backaches, difficulties in standing up, muscle spasms of hands. In 2008 appears dysphonia. From 2009 begins vision worsening. From 2011 he mentioned increasing of weakness of limbs and muscle spasms of hand.

Results: Expressionless, mask-like face. Involuntary posture, flexed in lumbar part. He gets about on crutches. Hypotrophy infraspinatus muscles, muscle hypotonia, muscle power in distal part 3-3,5 , and in proximal part -4 score, positive stairs symptom. He cannot suddenly open a clenched fist. Tendon reflexes are absent. Disembriogenetic stigmas such as gothic palate, pigmented nevus on back. ECG: Sinus rhytm, heart rate -54 per min. Electrical axis deviated to the right. AV blockade first degree, right bundle-branch block. Myocardiac cardiosclerosis. EMG: Myotonic discharges. Ophthalmologist: Total cataract ОD, immature cataract ОS. Genealogical analysis has revealed that grandparents had marriage of close relatives (they were cousins on mother right), such symptoms was revealed in every generation equally in boys and girls. Similar symptoms have elder brother and younger sister.

Conclusions: Our case is DM1, symptoms become evident from the fourth decade of life, with a slow progression over time. The key feature of the disease is myotonia, progressive muscular weakness (dystrophy) and wasting are also typical findings; facial, axial, semi-distal, and distal compartments are predominantly involved. DM1 is a multisystem disorder; indeed, patient has abnormalities of other organs and systems including the eye and the heart. We would like to draw attention to this multisystem disorder and note that in developing countries where DNA analysis is not available yet, diagnosis can be based only on  neurological examination, careful anamnesis and genealogical analysis.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/%d1%81ase-of-myotonic-dystrophy/