Thelansis

 Myotonic Dystrophy Type 1 (DM1) is a complex condition impacting various bodily systems, including skeletal and smooth muscles and the eye, heart, endocrine, and central nervous systems. It can be classified into three distinct phenotypes: mild, classic, and congenital. 1.        The mild form of DM1 is identifiable by cataracts and mild myotonia, which refers to prolonged muscle contractions. Individuals with this type generally have a normal life expectancy. 2.        Classic DM1 is characterized by muscle weakness and wasting, myotonia, cataracts, and often cardiac conduction abnormalities. Adults with classic DM1 may experience physical disability and a potentially shorter lifespan. 3.        Congenital DM1 presents with hypotonia and severe generalized weakness from birth, often accompanied by respiratory insufficiency and a risk of early mortality. Intellectual disability is commo...

 Myotonic dystrophy type 1 (DM1) is the most common form of muscular dystrophy in adults. DM1 is a dominant disorder characterized by multisystemic clinical features affecting skeletal muscle, heart, and the nervous and endocrine systems. ·        The prevalence varies by region and is most common in individuals of European descent. According to Thelansis disease modeling data, results of literature reviews, surveys, and registry analyses combined prevalence reported as 1 in 8,000 (12.5 per 100,000). ·        Myotonic Dystrophy Type 1 (DM1) is caused by the expansion of a CTG repeat in the 3' noncoding region of the DMPK gene on chromosome 19q13.3, which codes for the myotonic dystrophy protein kinase. ·        Normal individuals have between 5 and 37 repeats, but symptomatic patients typically have > 50 repeats. DM1 is categorized into four subtypes: congenital, childhood, classic,...