Neurol. praxi. 2019;20(3):190-194 | DOI: 10.36290/neu.2019.017

Diagnostics algorithm of muscular dystrophies

MUDr. Radim Mazanec, Ph.D.¹, MUDr. Lívie Mensová¹, MUDr. Daniel Baumgartner¹, MUDr. Veronika Potočková¹, prof. MUDr. Josef Zámečník, Ph.D.²

¹ Neurologická klinika 2. LF UK a FN Motol, Praha

² Ústav patologie a molekulární mediciny 2. LF UK a FN Motol, Praha

The diagnostics algorithm of muscular dystrophies has changed significantly over the past decade, mainly due to the development and increase of availability of molecular genetics and imaging methods. The golden standard of detailed medical history, attentive clinical examination, biochemical and electrophysiological testing now includes also magnetic resonance imaging and targeted or more extensive molecular genetic examinations, while muscle biopsy ceased to be the first choice method in the diagnostic process of hereditary myopathies. Routine MRI performance in patients with muscle. dystrophies allowed the detection and description of patterns of recognition characteristic for certain clinical units. Molecular genetic examinations as the only one allow definitive diagnosis to be determined by causal mutation detection. For better orientation in common outpatient practice, the article describes the crucial steps leading to the discovery of individual types of muscular dystrophy with respect to the level of today's knowledge and experience.

Keywords: muscular dystrophy, myopathy, hyperCKaemia, myogenic lesions, pattern of recognition

Received: February 15, 2019; Accepted: March 1, 2019; Prepublished online: March 1, 2019; Published: June 12, 2019  Show citation