Steinert’s Myotonic Dystrophy: medical expertise in the Social Security context

Abstract

Steinert’s myotonic dystrophy (SMD) is the most common muscular dystrophy in adults with dominant autosomal inheritance caused by alteration in DMPK gene, in the 19q13.3 chromosome. This disease is characterized by variable penetrance and large variability in severity. Its main symptoms are myotonic phenomena, endocrinopathies, cardiac arrhythmia, cataract, sudden death, difficulty in moving limbs, among others. Studying SMD in the context of Social Security is essential for the medical examination team’s work, for the high quality examination and conduction of each case. The objective of this work is to study SMD in the context of Social Security. In order to do so, a case of SMD was reported of a 50 year old male bus driver, diagnosed with SMD 3 years before this work, who was examined by the medical experts and was pleading government illness aid. For the discussion of the case, the subject was researched in the SciELO and Pubmed databases with the descriptors: muscular dystrophy, forensic medicine, and social security. In the medical exam the person with SMD did not present systemic arterial hypertension, diabetes, cardiopathy, respiratory diseases or other comorbidities and was using carbamazepine, cyclobenzaprine, duloxetine and naproxen, all prescribed by his neurologist. During the physical exam, the only symptom he showed was the myotonic phenomenon in both hands. The myotonic phenomenon makes it difficult to control the steering wheel and change gears, which must be done fast in order to conduct the bus accordingly. The bus driver is considered partially and permanently disabled for his work, but he can be readapted to work in an administrative position, as a bus ticket checker or as a driver of adapted vehicles.