A 60-YEAR-OLD WOMAN WITH SLOWLY PROGRESSIVE WALKING DIFFICULTY
Keywords:
walking difficulty, proximal weakness, myotonic response, mitochondrial disorders, ischemic leukoencephalopathyAbstract
Walking difficulty is a symptom attributed to multiple neurological etiologies. The differential diagnosis is broad and includes mitochondrial disorders, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), ischemic leukoencephalopathy and myopathies. We present the case of a middle-aged woman who was admitted to our clinic complaining about slowly progressive difficulty in stance and walking that started 7 years ago. Taking into consideration her past medical history, the neurological examination (proximal weakness in the upper and lower limbs, myotonic response elicited in her hands) and the brain magnetic resonance imaging we proceeded to exam the DMPK gene that revealed more than 150 CTG repeats in one allele compatible with DM1.
