Nevertheless, some degree of hypotonia and general weakness with facial predominance persists. [scielo.mec.pt]

In adults, it is mainly characterized by muscle weakness, myotonia, cardiac conduction defect and posterior subcapsular cataracts 1. In neonates, it is characterized by hypotonia and respiratory distress often leading to death 1. [radiopaedia.org]

In 1 patient it preceded significant muscle weakness by 15 years. A bonus to tip MIMmatch users is the option to sign up for updates on new gene-phenotype relationships. [upravazamladeisport.me]

Falls and resulting fractures in myotonic dystrophy: results from a multinational retrospective survey. Neuromuscul Disord. 2018;28:229–35. [PubMed: 29361394] Johnson NE, Abbott D, Cannon-Albright LA. [ncbi.nlm.nih.gov]

In neonates, it is characterized by hypotonia and respiratory distress often leading to death 1. The disease has a variable onset as it can be seen in adults (adult-onset) and children (congenital form). [radiopaedia.org]

distress and even death. [scielo.mec.pt]

Dysphagia is usually manageable with conservative dietary measures. Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons. [upravazamladeisport.me]

Dysphagia. 2013;28:446–54. [PubMed: 23460343] Facenda-Lorenzo M, Hernández-Afonso J, Rodríguez-Esteban M, de León-Hernández JC, Grillo-Pérez JJ. [ncbi.nlm.nih.gov]

In adults, it is mainly characterized by muscle weakness, myotonia, cardiac conduction defect and posterior subcapsular cataracts 1. In neonates, it is characterized by hypotonia and respiratory distress often leading to death 1. [radiopaedia.org]

In 1 patient it preceded significant muscle weakness by 15 years. A bonus to tip MIMmatch users is the option to sign up for updates on new gene-phenotype relationships. [upravazamladeisport.me]

A lower IQ seems to relate with more severe muscle weakness, longer CTG repeats, and maternal transmission.9,10 Although there is a later development of classic DM1 complications including distal muscle weakness, myotonia, cataracts, and electrocardiographic [scielo.mec.pt]

Between the age of three and five, foot deformities, learning problems, behavioral abnormalities, and delayed psychomotor development become the main problems. [scielo.mec.pt]