Myotonic dystrophy type 1 presenting with dyspnea: A case report

Figure 1 The patient’s appearance, her pedigree and DNA analysis. A: Bilateral facial & jaw muscle weakness of the patient; B: The pedigree of this family with myotonic dystrophy type 1; C: DNA analysis indicated that amplified cytosine-thymine-guanine trinucleotide repeated over 100 times present in the 3′ untranslated region of the DMPK gene of the proband (Ⅲ8), her mother (Ⅱ10), and her uncle (Ⅱ13).

Figure 2 The patient's typical electromyography. Electromyography of the proband: myotonia potentials were visible in the resting state of the examined extremity muscles and the orbicularis oris muscles, the motor unit potential time limit was shortened, and the amplitude was decreased. A: Left sternocleidomastoid muscle; B: Right deltoid; C: Right tibial anterior muscle; D: Left medial femoris muscle; E: Left tibial anterior muscle; F: Left orbicularis muscle.