What causes DM1?
DM1 is caused by a change or alteration in the myotonic dystrophy protein kinase (DMPK) gene. DM2 is caused by a change or alteration in the nucleic acid-binding protein (CNBP) gene; this gene is also called the ZNF9 gene.
Is DM1 hereditary?
DM1 is inherited in an autosomal dominant manner. Offspring of an affected individual have a 50% chance of inheriting the expanded allele.
Is myotonic dystrophy life threatening?
Getting a Prognosis Often the disorder is mild and only minor muscle weakness or cataracts are seen late in life. At the opposite end of the spectrum, life-threatening neuromuscular, cardiac and pulmonary complications can occur in the most severe cases when children are born with the congenital form of the disorder.
What kind of muscular dystrophy is MD1?
Myotonic dystrophy type 1 (MD1), one of the two types of myotonic dystrophy , is an inherited type of muscular dystrophy that affects the muscles and other body systems (e.g., heart, eyes, endocrine system, and central nervous system ). [1]
What are the symptoms of myotonic dystrophy ( DM1 )?
A long, thin face with hollow temples, drooping eyelids and, in men, balding in the front, is typical in myotonic dystrophy. The muscles of the neck, jaw, and parts of the head and face may weaken, especially in DM1.
Which is the most severe form of DM1?
DM1 (also known as Steinert’s disease) is the most prevalent form of the condition and generally the most severe. This form affects at least 1 in 2,300 people worldwide or 140,000 people in the United States alone, although prevalence may be significantly under-reported.
What happens to a baby with congenital DM1?
Weak muscles. Babies with congenital DM1 have very weak muscles and a lack of muscle tone (hypotonia). They appear floppy, have trouble breathing, and suck and swallow poorly. In the past, many infants with congenital DM didn’t survive.