Forensic Considerations in Cases of Myotonic Dystrophy at Autopsy

Abstract

Myotonic dystrophy (DM) is a chronic, slowly progressive, autosomal-dominant disorder with delayed muscle relaxation after contraction, distal skeletal muscle weakness, and atrophy. It has a reduced life expectancy due predominantly to respiratory failure or sudden cardiac death. The mortality rate is approximately 7.3 times greater than the general population with a mean age at death of 53 years. Degeneration of the cardiac conduction system causes atrioventricular block, arrhythmias, and ventricular failure. A case of sudden death in a 44-year-old woman with DM type 1 is reported to demonstrate an alternative lethal mechanism. At autopsy, there was extensive infiltration of skeletal muscles with adipose tissue. The heart was structurally normal. A deep venous thrombosis of the right calf was identified with a large saddle pulmonary thromboembolus and bilateral peripheral thromboemboli. DM1-related thrombosis had most likely occurred because of the decedent's impaired mobility, possible hypercoagulable state, and serum changes from muscle necrosis.

Massive abscess with prolonged respiratory failure due to newly diagnosed myotonic dystrophy

“…[1–3] Respiratory involvement is the leading cause of mortality. [4,5] Carbon dioxide (CO 2 ) insensitivity in MD1 patients has been reported as the main cause of alveolar hypoventilation. [6]…”

Progression to Complete Heart Block in a Patient With Myotonic Dystrophy

“…It is the most common muscular disorder associated with reported sudden cardiac death [1]. Mortality rate is 7.3 times greater than the general population with the mean age of death at 53 years [2]. Unfortunately, there is no correlation between severity of disease and the amount of cardiac involvement [3].…”

Dystrophia myotonica type 1 presenting with dysarthria: A case report and literature review

“…Incidence rates of DM range from 1 in 500 to 3 per 100,000, depending on the population (3). DM affects the skeletal muscles, ocular lens, lungs, heart and gastrointestinal tract, as well as the endocrine and central nervous systems (1,2,4).…”

“…Dystrophiamyotonica (DM) is a systemic autosomal dominant disorder and follows a progressive, chronic course ( 1 , 2 ). Incidence rates of DM range from 1 in 500 to 3 per 100,000, depending on the population ( 3 ). DM affects the skeletal muscles, ocular lens, lungs, heart and gastrointestinal tract, as well as the endocrine and central nervous systems ( 1 , 2 , 4 ).…”