Unravelling the myotonic dystrophy type 1 clinical spectrum: A systematic registry-based study with implications for disease classification

Myotonic dystrophy type 1 and pseudo-obstruction in a child with smooth muscle α-actin deficiency and eosinophilic myenteric plexitis

“…Although MD is characterized by myotonic phenomena and progressive muscular weakness, multisystem involvement (endocrine, cardiovascular, and ocular abnormalities; cognitive impairment; and mental retardation) is frequent (1). The gastrointestinal tract is also commonly involved, particularly having motility abnormalities occurring from the esophagus to the anus (2).…”

“…Myotonic dystrophy (MD) type 1 is a neuromuscular disorder having several clinical phenotypes (congenital, childhood-onset, adult-onset, and late-onset forms) and a broad clinical spectrum (1). The gastrointestinal tract is often involved in patients with MD, and digestive symptoms may be the first sign of dystrophic disease and may precede the musculo-skeletal features (2).…”

Myotonic dystrophy: disease repeat range, penetrance, age of onset, and relationship between repeat size and phenotypes

“…Traditionally, DM1 has been divided into late-onset, adult, and congenital forms. However, in a recent study by De Antonio et al [••55], separate categories of congenital, infantile, juvenile, adult and late-onset forms of DM1 are described, with respective mean repeat lengths of ~1000, 800, 600, 400, and 200 according to registry records (Table 1). Across all these forms, symptoms span a broad range of tissues, including skeletal muscle, heart, CNS, as well as the GI tract, eyes, reproductive tract, endocrine system, and immune system.…”

“…The infantile and juvenile forms of DM1 are less severe than congenital, but still exhibit many of the same features, in particular, cognitive challenges [59] [60]. Severe myotonia is also much more prominent in the juvenile form [55]. …”

Myotonic Dystrophies: State of the Art of New Therapeutic Developments for the CNS

“…The five clinical forms distinguish from each other by the prevalence of the main symptoms as their apparition profiles. This new classification appears to be useful in the Context of emerging therapeutic approaches and in harmonization of international myotonic dystrophy network (IDMC—International Myotonic Dystrophy Consortium; De Antonio et al, 2016). Table 1 summarizes these subtypes:…”