WCN 2021 | Differential diagnosis from limb-girdle muscular dystrophies

Marianne de Visser, MD, Academic Medical Centre (AMC), University of Amsterdam, Amsterdam, The Netherlands, talks on the differential diagnosis of limb-girdle muscular dystrophies. Prof. de Visser gives special attention to treatable diseases or those that have significant consequences for the patients or their families. For instance, spinal muscular atrophy (SMA) types 3 and 4 are currently treatable conditions and should not be missed as an accurate diagnosis has important treatment consequences. Hypothyroidism, statin-induced rhabdomyolysis, myositis are other conditions that should be considered during the diagnostic evaluation. Mitochondrial myopathies and myotonic dystrophy type 2 might also mimic limb-girdle muscular dystrophies; in those cases, an accurate diagnosis is crucial considering cardiac complications and family counseling. This interview took place during the XXV World Congress of Neurology.