Neurol. praxi. 2019;20(3):183-189 | DOI: 10.36290/neu.2019.112

Muscular dystrophy of adult age

MUDr. Petr Ridzoň, MUDr. Kateřina Matějová, MUDr. Adéla Škvorová

Neurologická klinika 3. LF UK a FTN v Praze

Muscle dystrophies are progressive, hereditary diseases which are characterized by not fluctuating, chronic and (mostly) painless weakness of groups of muscles and their atrophies. They can manifest in childhood or in adult age. These diseases are rare with overlapping clinical pictures and similar phenotypes and their diagnostics is complicated, mostly performed in the neuromuscular centers. The most common muscular dystrophies should be recognized by each neurologist. Dystrophinopathies, myotonic dystrophies, facioscapulohumeral muscular dystrophy and limb girdle dystrophies are the most common dystrophies of adult age. Some dystrophies with characteristic phenotypes can be quite easily diagnosed (facioscapulohumeral muscular dystrophy, myotonic dystrophy type 1), the issue of the most common dystrophies is described in this article. Not only appointment of diagnosis is important, but also – monitoring of disability of associated systems (heart, eyes, endocrine system, lungs), genetic consultations and solutions of social problems associated with the disease – this is a common care of each neurologist.

Keywords: muscular dystrophy, adult age, limb girdle muscular dystrophy, facioscapulohumeral, myotonic dystrophy, organdamage, care.

Published: June 12, 2019  Show citation